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  • Hamartoma Wikipedia
    External links [ edit ] Classification D ICD - 10 : Q85.9 ICD - 9-CM : 757.32 , 759.6 MeSH : D006222 DiseasesDB : 19785 External resources Patient UK : Hamartoma "Topic 28: Angiomyolipoma" . eMedicine.com Radio . 2019-04-05.
    CYP1A1, FLCN, PTEN, TSC2, SMO, STK11, NEK9, ACTB, DYNC2LI1, TFAP2A, NTRK2, CDC73, HMGA2, ACVR1, KLLN, TSC1, TCTN3, MTOR, SMAD4, SLC12A3, TESC, LPP, PIK3CA, TP53, PIK3CD, GLI3, CDX2, PTGS2, PIK3CG, PIK3CB, RAD51B, COX2, TEP1, CD34, MTCO2P12, PGRMC1, DCTN6, DICER1, ZNRD2, DKK1, LHFPL6, ABCA4, OSTM1, SMUG1, GREM1, TMED7, WDPCP, SUFU, KRT20, FBLIM1, FBXW7, SLC12A9, GOPC, AKT1S1, TICAM2, MIR21, TMED7-TICAM2, LGR5, SHH, MOGS, VIM, BRAF, CD6, CDKN1A, CDKN2A, CLCN7, CMM, EGFR, EREG, ESR2, GNAS, GRM1, GSTM1, GSTM2, GSTT1, HMGA1, SLC29A2, IFI27, IGF2, LAMA4, MDM2, NGFR, PRRX1, PSMD9, RET, RPE, SDHB, SMARCB1, TIMP1, VEGFA, H3P23
  • Pulmonary Atresia Wikipedia
    . ^ Abuhamad, Alfred Z.; Chaoui, Rabih (2012-03-28). A Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts .
    FOXF1, POLA1, PIGL, TTC7A, STPG4, FN1, GATA4, GDF1, ISL1, NODAL, CHDH
    • Pulmonary Atresia Mayo_clinic
      Pulmonary atresia with ventricular septal defect Pulmonary atresia (uh-TREE-zhuh) with ventricular septal defect (VSD) is a heart problem present at birth (congenital heart defect). In this pulmonary atresia, the valve between the heart and lungs (pulmonary valve) is not fully developed. Blood can't flow from the right lower heart chamber (right ventricle) to the lungs. In pulmonary atresia with ventricular septal defect (VSD), there's also a hole between the two pumping chambers of the heart. The VSD allows blood to flow into and out of the baby's right ventricle.
  • Disordered Eating Wikipedia
    These factors are similar among boys and girls alike. [3] However, the reported incidence rates of disordered eating are consistently and significantly higher in female than male participants. 61% of females and 28% of males reported disordered eating behaviors in a study of over 1600 adolescents. [8] Nuclear family environment [ edit ] The nuclear family dynamic of an adolescent plays a large part in the formation of their psychological, and thus behavioral, development.
    MCL1, SLC6A4, COMT, AVP, INO80B, ATP8A2, WASF2, HDAC4, ADIPOQ, WASF1, MC4R, AVPR1A, LEP, IGF2, HTR2A, HTR1A, NR5A1, DRD4, BDNF, NT5C1B
  • Muir-Torre Syndrome Omim
    Patients with a score of 3 or more were more likely to have Muir-Torre syndrome (28 of 29 patients), whereas those with a score of 2 had intermediate likelihood (12 of 20 patients); no patient with a score of 0 or 1 was diagnosed with Muir-Torre syndrome.
    MLH1, MSH2, MSH6, FHIT, MRC1, MUTYH, MYH1, PMS2
    • Muir-Torre Syndrome Orphanet
      Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
    • Muir–torre Syndrome Wikipedia
      This includes frequent and early colonoscopies, mammograms, dermatologic evaluation, and imaging of the abdomen and pelvis. [11] Epidemiology [ edit ] Muir–Torre was observed to occur in 14 of 50 families (28%) and in 14 of 152 individuals (9.2%) with Lynch syndrome, also known as HNPCC . [12] The 2 major MMR proteins involved are hMLH1 and hMSH2.
    • Muir-Torre Syndrome Gard
      Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer ), followed by the genitourinary tract . Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.
  • Diabetes And Deafness, Maternally Inherited Omim
    Although the prevalence of diabetic retinopathy was 8% among patients who had received an ophthalmologic examination, a lower than expected percentage after a mean 12-year duration of diabetes, the prevalence of kidney disease was 28%. This suggested that a specific renal involvement results from mitochondrial disease.
    TRNL1, TRNE, TRNK, GCG, HNF4A, IGHA1, INS, COX1, COX2, COX3, ND5, SCT, RAPGEF5, IGAN1, MTCO2P12
    • Diabetes And Deafness Wikipedia
      "MIDD" redirects here. For the liberal arts college in Vermont, see Middlebury College . Diabetes and deafness Other names Diabetes mellitus and deafness, maternally inherited, MIDD, Ballinger-Wallace syndrome, Diabetes mellitus type II with deafness, This condition is inherited via a mitochondrial inheritance manner Diabetes and deafness ( DAD ) or maternally inherited diabetes and deafness ( MIDD ) or mitochondrial diabetes is a subtype of diabetes which is caused from a point mutation at position 3243 in human mitochondrial DNA , which consists of a circular genome. This affects the gene encoding tRNALeu . [1] [2] Because mitochondrial DNA is contributed to the embryo by the oocyte and not by spermatozoa , this disease is inherited from maternal family members only. [1] As indicated by the name, MIDD is characterized by diabetes and sensorineural hearing loss . [1] Contents 1 Signs and symptoms 2 Genetics 2.1 Penetrance and age of onset 2.2 Effect of mutation on tRNALeu(UUR) 2.3 Metabolic characteristics of diabetes in MIDD 2.4 Metabolic characteristics of deafness in MIDD 3 Diagnosis 4 Treatment 4.1 Initial 5 See also 6 References 7 External links Signs and symptoms [ edit ] As suggested by the name, patients with MIDD are subject to sensorineural hearing loss . [1] This begins with a reduction in the perception of frequencies above approximately 5 kHz which progressively declines, over the years, to severe hearing loss at all frequencies . [1] The diabetes that accompanies the hearing loss can be similar to Type 1 diabetes or Type 2 diabetes ; however, Type 1-like diabetes is the more common form of the two. MIDD has also been associated with a number of other issues including kidney dysfunction, gastrointestinal problems , and cardiomyopathy . [3] Genetics [ edit ] Penetrance and age of onset [ edit ] MIDD represents 1% of people who have diabetes . Over 85% of people that carry the mutation in mitochondrial DNA at position 3243 present symptoms of diabetes.
    • Maternally-Inherited Diabetes And Deafness Orphanet
      Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. Epidemiology The prevalence is unknown, but MIDD accounts for 0.2-3% of all cases of diabetes. Clinical description The first manifestations may occur at any age, but the disease is usually diagnosed in early adulthood. In most cases, the onset of deafness precedes that of diabetes. The severity of the hearing loss is variable but it is sensorineural, bilateral and progressive, and is more profound at higher frequencies. In most cases, patients present pseudo-type 2 diabetes, with a normal or low body mass index.
    • Maternally Inherited Diabetes And Deafness Medlineplus
      Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina ). This disorder does not usually cause vision problems in people with MIDD.
    • Maternally Inherited Diabetes And Deafness Gard
      Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1 , MT-TK , or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance.
  • Kbg Syndrome Gene_reviews
    Individuals with a 16q24.3 deletion that includes ANKRD11 and surrounding genes have a more severe phenotype, with brain anomalies detected in 28%, congenital heart defects in 33%, severe astigmatism in 28%, and thrombocytopenia in 22% [Novara et al 2017].
    ANKRD11, KAT6B, KDM1A
    • Kbg Syndrome Omim
      A number sign (#) is used with this entry because of evidence that KBG syndrome (KBGS) is caused by heterozygous mutation in the ANKRD11 gene (611192) on chromosome 16q24. Description KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et al. (2011) noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis. Clinical Features Herrmann et al. (1975) described 2 families in which multiple members had short stature, characteristic facies (telecanthus, wide eyebrows, brachycephaly), macrodontia, mental retardation, and skeletal anomalies (abnormal vertebrae, short metacarpals, short femoral necks). Male-to-male transmission occurred in 1 family. (The designation KBG syndrome follows Opitz's practice of using the initials of affected families' surnames.)
    • Kbg Syndrome Orphanet
      A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities. Epidemiology The prevalence is unknown. More than 150 cases have been reported to date. ANKRD11 is one of the most frequently muted gene in patients with neurodevelopmental disorders diagnosed by whole exome sequencing. Clinical description BG syndrome (KBGS) manifests in childhood with global developmental delay with short stature, mild-to-moderate intellectual disability, characteristic facies, macrodontia of the permanent upper central incisors and skeletal anomalies. Behavioral disturbances including hyperactivity, aggressiveness, attention deficit and autism spectrum disorders are recognized as constant clinical features.
    • Kbg Syndrome Wikipedia
      KBG syndrome Symptoms macrodontia , brachycephaly , hypertelorism , synophrys , long philtrum , thin upper lip KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. [1] Features include unusually large upper front teeth ( macrodontia ), wide, short skull ( brachycephaly ), widely spaced eyes ( hypertelorism ), and wide eyebrows that may grow together in the middle ( synophrys ). [2] The syndrome was first described by Herrmann in 1975 in three distinct families. [3] Herrmann proposed the name KBG syndrome after the initials of affected families last names. [4] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050 ^ "KBG syndrome" . Genetics Home Reference . U.S. Department of Health & Human Services, National Library of Medicine. ^ Herrmann J, Pallister PD, Tiddy W, Opitz JM (1975). "The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies". Birth Defects Original Article Series . 11 (5): 7–18. PMID 1218237 . ^ Morel Swols D, Foster J, Tekin M (December 2017). "KBG syndrome" . Orphanet Journal of Rare Diseases . 12 (1): 183. doi : 10.1186/s13023-017-0736-8 .
    • Kbg Syndrome Medlineplus
      KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia ). Other distinctive facial features include a wide, short skull (brachycephaly ), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys ), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum ), and a thin upper lip . A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2.
    • Kbg Syndrome Gard
      KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically .
  • Silicosis Wikipedia
    Other accounts place the mortality figure at well over 1000 workers, primarily African American transient workers from the southern United States. [26] Workers who became ill were fired and left the region, making an exact mortality account difficult. [27] The Hawks Nest Tunnel Disaster is known as "America's worst industrial disaster. [28] The prevalence of silicosis led some men to grow what is called a miner's mustache, in an attempt to intercept as much dust as possible. ... "Silica exposure and autoimmune diseases". Am. J. Ind. Med . 28 (5): 603–8. doi : 10.1002/ajim.4700280505 .
    ARG1, IL1B, CCL2, CPM, NOS2, PDZRN4, JUN, AHR, PTEN, TNF, IL1RN, CD36, CHIA, EGR1, ELN, ARPC2, MMP13, PRKCB, HNRNPA3, CCL7, CSF2, TGFB1, HECTD1, FASLG, ACE, HLA-DRB1, IL1A, IFNG, BBC3, ZC3H4, IL10, IL12B, TNFRSF6B, MARCO, IL17A, SFTPD, FAS, IL17F, MIR29B1, NLRP3, BMP7, MIR29B2, AKT1, ACE2, C4B_2, TIMP1, IGLL5, TLR4, MIR1224, TM7SF2, MIR542, TP53, MIR486-1, SCGB1A1, TEK, WNT3, TLR9, MSC, PLF, ZEB1, FAM13A, SIGMAR1, MIR200C, CPSF6, MIR19A, NPNT, FSTL1, MMRN1, PPP1R13B, BMS1P20, INTS4, ZC3H12A, ERRFI1, AGT, NFKB1, SLC11A1, CD44, HGF, GSTP1, GAS6, FN1, ESR1, DSP, CRP, CREB1, CENPB, CASP8, SELL, CASP3, CASP1, C4B, C4A, ATM, ATF3, ARHGDIA, APOA1, ANGPT1, HLA-DPB1, HLA-DQB1, HMGB1, IGLV@, SDC2, REN, PTGS2, PRB1, PPP1CB, PPARG, AGTR1, MUC1, COX2, MMP2, MMP1, MGMT, MBL2, KRAS, CXCL10, CXCR2, CXCL8, IL6, IL4, MTCO2P12
    • Silicosis Gard
      Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form.
  • Bardet-Biedl Syndrome 1 Omim
    Green et al. (1989) examined 32 patients with Bardet-Biedl syndrome for some or all of the cardinal manifestations of the disorder. Of 28 patients examined, all had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa. ... This method allowed identification of both disease-causing mutations in 29 (28%) of 105 families. Thirty-five different disease-causing mutations were identified, 18 of which were novel.
    MKS1, BBS10, SDCCAG8, LZTFL1, BBIP1, CEP290, ARL6, IFT27, BBS2, MKKS, BBS4, BBS1, TTC8, ALMS1, IFT172, C8orf37, NPHP1, TMEM67, TBC1D32, BBS7, TRIM32, BBS9, BBS5, BBS12, TRAPPC3, ASTN2, PIGX, CEP19, ZDHHC24, CCDC28B, LEP, GLIS2, RTEL1, PLLP, PYY3, SULT1A4, PEG13, AZIN1, STOML3, RIN2, MAGEL2, CBLL2, MARVELD2, MYO3B, INPP5E, USP35, MUL1, WDPCP, IFT74, CEP131, SCAPER, INVS, NPY2R, NPY, NMB, NDN, MYO9A, MYO7A, RAB8A, KIFC3, KIF2A, INSR, IL18, GPT, GFAP, ERG, CCT, TNFRSF11B, PRKN, PCM1, ADIPOQ, CEP164, STUB1, FEM1B, RAPGEF5, IQCB1, FEZ1, TRPV1, PDE6B, VEGFA, SULT1A3, RHO, RFX1, RCVRN, PECAM1, SLX1A-SULT1A3
    • Bardet-Biedl Syndrome 21 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-21 (BBS21) is caused by homozygous mutation in the C8ORF37 gene (614477) on chromosome 8q22. Mutation in the C8ORF37 gene can also cause cone-rod dystrophy (CORD16; 614500) and isolated retinitis pigmentosa (RP64; 614500). Description BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Heon et al. (2016) studied a 17-year-old Caucasian girl, born to consanguineous parents, who exhibited features that met the diagnostic criteria for Bardet-Biedl syndrome (BBS), including slowly progressive rod-cone dystrophy, 3-limb postaxial polydactyly, near-obesity (BMI, 29.1), mild learning difficulty, abnormally positioned uterus, and horseshoe kidney.
    • Bardet-Biedl Syndrome 4 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-4 (BBS4) is caused by homozygous mutation in the BBS4 gene (600374) on chromosome 15q24. Description BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Iannaccone et al. (2005) described 3 patients with BBS4 from an Italian family (Mykytyn et al., 2001).
    • Bardet–biedl Syndrome Wikipedia
      "Laurence-Moon-Biedl syndrome" and "Laurence-Moon-Biedl-Bardet" redirect here. Not to be confused with Laurence–Moon syndrome . Bardet–Biedl syndrome Other names Biedl-Bardet Syndrome [1] This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phennomena also cause some of the variation seen in BBS Specialty Medical genetics Bardet–Biedl syndrome ( BBS ) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy , polydactyly , central obesity , hypogonadism , and kidney dysfunction in some cases. [2] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Contents 1 Signs and symptoms 1.1 Relation to other rare genetic disorders 2 Pathophysiology 3 Diagnosis 4 Eponym 5 References 6 External links Signs and symptoms [ edit ] Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy , with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly ; truncal obesity that manifests during infancy and remains problematic throughout adulthood; varying degrees of learning disabilities; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality.
    • Bardet-Biedl Syndrome Gard
      Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy ; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person.
    • Bardet-Biedl Syndrome 13 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-13 (BBS13) is caused by compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22. Description BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Xing et al. (2014) reported a Chinese boy with BBS13. Although clinical details were not provided, the child was noted to have typical symptoms, such as retinitis pigmentosa, obesity, and polydactyly.
    • Bardet-Biedl Syndrome Orphanet
      Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. Clinical expression is variable but most patients manifest the majority of clinical signs during the disease course. Pigmentary retinopathy is the only constant clinical sign after childhood.
    • Bardet-Biedl Syndrome 2 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-2 (BBS2) is caused by homozygous or compound heterozygous mutations in the BBS2 gene (606151) on chromosome 16q13. Description BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Kwitek-Black et al. (1993) studied a large inbred Bedouin family from the Negev region of Israel (pedigree 1) in which Bardet-Biedl syndrome was linked to chromosome 16q21.
    • Bardet-Biedl Syndrome 17 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-17 (BBS17) is caused by homozygous or compound heterozygous mutation in the LZTFL1 gene (606568) on chromosome 3p21. Description BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Deffert et al. (2007) studied 2 sibs with Bardet-Biedl syndrome (BBS) from a consanguineous Algerian family.
    • Bardet-Biedl Syndrome 3 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-3 (BBS3) is caused by homozygous mutation in the ARL6 gene (608845) on chromosome 3q11. Description BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
    • Bardet-Biedl Syndrome 19 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-19 (BBS19) can be caused by homozygous mutation in the IFT27 gene (615870) on chromosome 22q12. One such family has been reported. Description BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Aldahmesh et al. (2014) reported 2 sibs with BBS from a consanguineous Saudi family. The older of the sibs was a 15-year-old boy with morbid obesity, mild intellectual disability, polydactyly of all extremities, borderline renal failure, retinitis pigmentosa, and hypogonadism.
    • Bardet-Biedl Syndrome 18 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-18 (BBS18) can be caused by homozygous mutation in the BBIP1 gene (613605) on chromosome 10q25. One such patient has been reported. Description BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Scheidecker et al. (2014) studied a patient with Bardet-Biedl syndrome (BBS) who was the only affected sib of 4 born to consanguineous Italian parents. He had been diagnosed at age 49 based on the presence of 4 major features (retinitis pigmentosa, obesity, kidney failure, cognitive disability) and 1 minor feature (brachydactyly).
    • Bardet-Biedl Syndrome 16 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-16 (BBS16) is caused by homozygous or compound heterozygous mutations in the SDCCAG8 gene (613524) on chromosome 1q43. Mutations in the SDCCAG8 gene can also result in Senior-Loken syndrome-7 (613615), an autosomal recessive ciliopathy. Description BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
    • Bardet-Biedl Syndrome 10 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-10 (BBS10) is caused by homozygous or compound heterozygous mutation in the BBS10 gene (610148) on chromosome 12q21. Description BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features In 6 patients with molecularly confirmed BBS, including 3 patients with BBS10, Scheidecker et al. (2015) found a cone-rod pattern of dysfunction.
    • Bardet-Biedl Syndrome 9 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-9 (BBS9) is caused by homozygosity or compound heterozygosity for mutations in the PTHB1 gene (607968) on chromosome 7p14. Description BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Abu-Safieh et al. (2012) reported 3 sibs with BBS9 from a consanguineous Arab family. One sib had most of the major features of the disorder, including obesity, mental retardation, renal disease, polydactyly, and retinitis pigmentosa, but the other 2 sibs had only retinitis pigmentosa with no additional features.
    • Bardet-Biedl Syndrome 11 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-11 (BBS11) is caused by mutation in the TRIM32 gene (602290) on chromosome 9q33. One such family has been reported. Description BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics Chiang et al. (2006) studied a consanguineous Bedouin family with 4 sibs with BBS in which linkage studies had failed to identify a disease locus. High-density SNP genotyping identified a 2.4-Mb region of homozygosity linked to the phenotype.
    • Bardet-Biedl Syndrome 8 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-8 (BBS8) is caused by homozygous mutations in the TTC8 gene (608132) on chromosome 14q31. Description BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Ansley et al. (2003) identified 3 families, 1 of Pakistani and 2 of Saudi Arabian lineage, with BBS8. Affected members had retinitis pigmentosa, obesity, postaxial polydactyly of at least 2 limbs, brachycephaly, hypogonadism, speech impediment, and developmental delay.
    • Bardet-Biedl Syndrome 5 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-5 (BBS5) is caused by homozygous mutation in the BBS5 gene (603650) on chromosome 2q31. Description BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
    • Bardet-Biedl Syndrome 12 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-12 (BBS12) is caused by homozygous or compound heterozygous mutation in the BBS12 gene (610683) on chromosome 4q27. Description BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Dulfer et al. (2010) reported 2 female sibs with BBS resulting from compound heterozygous truncating mutations in the BBS12 gene.
    • Bardet-Biedl Syndrome 14 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-14 (BBS14) is caused by homozygous mutation in the CEP290 gene (610142) on chromosome 12q21. One such patient has been reported. Description BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics In an 11-year-old female with Bardet-Biedl syndrome from a consanguineous Saudi Arabian family, Leitch et al. (2008) identified homozygosity for a nonsense mutation in the CEP290 gene (610142.0013). The proband also carried a complex allele of the MKS3 gene (609884.0012) in heterozygosity.
    • Bardet-Biedl Syndrome 6 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-6 (BBS6) is caused by homozygous or compound heterozygous mutation in the MKKS gene (604896) on chromosome 20p12. Mutations in the MKKS gene can also cause McKusick-Kaufman syndrome (236700). Description BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
    • Bardet-Biedl Syndrome 20 Omim
      A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-20 (BBS20) is caused by compound heterozygous mutation in the IFT74 gene (608040) on chromosome 9p21. One such patient has been reported. Description BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Lindstrand et al. (2016) reported a 36-year-old man (AR672-04) with BBS. The patient had obesity, polydactyly, hypogonadism, intellectual disability, microcephaly, and retinitis pigmentosa.
    • Bardet-Biedl Syndrome 15 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-15 (BBS15) is caused by homozygous mutation in the WDPCP gene (613580) on chromosome 2p15. One such patient has been reported. Description BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics In a patient with a clinical diagnosis of BBS, Kim et al. (2010) identified a homozygous mutation in the WDPCP gene (613580.0001). Both parents and an unaffected sib were heterozygous for the mutation.
    • Bardet-Biedl Syndrome 7 Omim
      A number sign (#) is used with this entry because Bardet-Biedl syndrome-7 (BBS7) is caused by homozygous mutation in the BBS7 gene (607590) on chromosome 4q27. Description BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features The 4 affected children with BBS7 from the consanguineous family studied by Najmabadi et al. (2011) had severe intellectual disability, polydactyly, and obesity.
  • Breast-Ovarian Cancer, Familial, Susceptibility To, 1 Omim
    In 1 family the tumor was detected in 4 females, of whom 2 had had breast cancer before the development of ovarian cancer. Among 28 women in 16 families at high risk of ovarian carcinoma, in whom prophylactic oophorectomy was performed, 3 subsequently developed disseminated intraabdominal malignancy (Tobacman et al., 1982). ... They reviewed 277 families with pathogenic BRCA1/BRCA2 mutations and identified 28 breast cancer phenocopies. Phenocopies constituted up to 24% of tests on women with breast cancer after the identification of the mutation in the proband. ... Together, these mutations were found in 28 of 41 families identified as having the mutation.
    BRCA1, BRCA2, TP53, RAD51C, CHEK2, PALB2, RAD51D, BRIP1, MRE11, BARD1, NBN, PTEN, RAD50, RAD51, ATM, MLH1, ABRAXAS1, RAD51B, RPL21P4, C11orf65, MSH6, MSH2, PMS2, KRT88P, KRAS, PRSS1, BRCA3, MRC1, AR, WT1, SEM1, VHL, PARP1, RASSF7, ALYREF, HOXB13, RNU1-4, OLA1, HSD17B7, BCCIP, EMSY, DHRS11, SLC22A12, HSD17B13, MIR146A, S100A2, PMS1, RB1, FANCC, APRT, CDH1, CDK2, CDKN2A, COL11A2, CRYGD, DHX8, EPHA3, ERBB2, ERCC4, FANCA, FAP, RAD52, HRAS, HSD11B2, HSD17B1, IGFBP4, KIT, MFAP1, MSH3, NF2, NOTCH3, NRAS, APC, LOC111589215
    • Brca2 Hereditary Breast And Ovarian Cancer Syndrome Gard
      BRCA2 hereditary breast and ovarian cancer syndrome ( BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined.
    • Breast-Ovarian Cancer, Familial, Susceptibility To, 4 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to familial breast-ovarian cancer-4 (BROVCA4) results from heterozygous germline mutation in the RAD51D gene (602954) on chromosome 17q11. For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Loveday et al. (2011) identified 8 families with breast-ovarian cancer associated with mutation in the RAD51D gene. Pathology information was available for 4 ovarian cancers from RAD51D mutation carriers; 3 of the cancers were serous adenocarcinoma and 1 was an endometrioid cancer.
    • Breast-Ovarian Cancer, Familial, Susceptibility To, 2 Omim
      Together, these mutations were found in 28 of 41 families identified as having the mutation.
    • Hereditary Breast And Ovarian Cancer Syndrome Orphanet
      Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Epidemiology Prevalence of germline BRCA mutations has been estimated to be about 1:1,600 women in the general population. The lifetime risk of developing hereditary BC (HBC) and/or OC can reach 80%. Clinical description HBC is not associated with specific phenotypic features.
    • Hereditary Breast–ovarian Cancer Syndrome Wikipedia
      Hereditary breast–ovarian cancer syndrome Other names HBOC Ovarian and breast cancer patients in a pedigree chart of a family Specialty Obstetrics and gynaecology , endocrinology , dermatology , oncology , medical genetics Hereditary breast–ovarian cancer syndromes ( HBOC ) are cancer syndromes that produce higher than normal levels of breast cancer , ovarian cancer and additional cancers in genetically related families (either one individual had both, or several individuals in the pedigree had one or the other disease). It accounts for 90% of the hereditary cancers. [1] The hereditary factors may be proven or suspected to cause the pattern of breast and ovarian cancer occurrences in the family. [2] The name HBOC may be misleading because it implies that this genetic susceptibility to cancer is mainly in women. In reality, all sexes have the same rates of gene mutations and HBOC can predispose to other cancers including prostate cancer and pancreatic cancer. [3] For this reason, the term "King syndrome" has recently come into use. The new name references Mary-Claire King who identified the genes BRCA1 and BRCA2. Contents 1 Causes 2 Prevention 3 References 4 External links Causes [ edit ] A number of genes are associated with HBOC. [4] The most common of the known causes of HBOC are: BRCA mutations : [4] Harmful mutations in the BRCA1 and BRCA2 genes can produce very high rates of breast and ovarian cancer, as well as increased rates of other cancers.
    • Brca1 Hereditary Breast And Ovarian Cancer Syndrome Gard
      BRCA1 hereditary breast and ovarian cancer syndrome ( BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner.
    • Breast-Ovarian Cancer, Familial, Susceptibility To, 3 Omim
      A number sign (#) is used with this entry because susceptibility to familial breast-ovarian cancer-3 (BROVCA3) results from heterozygous germline mutation in the RAD51C gene (602774) on chromosome 17q21-q24. For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370). For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively. Clinical Features Meindl et al. (2010) identified 6 unrelated German pedigrees with breast-ovarian cancer associated with heterozygous germline mutations in the RAD51C gene. Each family had at least 2 affected women. The mean age of onset was 53 years (range 33 to 78) for breast cancer and 60 years (range 50 to 81) for ovarian cancer.
  • Dengue Fever Wikipedia
    An alternative name for dengue, "breakbone fever", comes from the associated muscle and joint pains. [20] [26] The course of infection is divided into three phases: febrile, critical, and recovery. [19] The febrile phase involves high fever, potentially over 40 °C (104 °F), and is associated with generalized pain and a headache; this usually lasts two to seven days. [19] [26] Nausea and vomiting may also occur. [25] A rash occurs in 50–80% of those with symptoms [26] [27] in the first or second day of symptoms as flushed skin , or later in the course of illness (days 4–7), as a measles-like rash. [27] [28] A rash described as "islands of white in a sea of red" has also been observed. [29] Some petechiae (small red spots that do not disappear when the skin is pressed, which are caused by broken capillaries ) can appear at this point, [19] as may some mild bleeding from the mucous membranes of the mouth and nose. [13] [26] The fever itself is classically biphasic or saddleback in nature, breaking and then returning for one or two days. [28] [29] In some people, the disease proceeds to a critical phase as fever resolves. [25] During this period, there is leakage of plasma from the blood vessels, typically lasting one to two days. [19] This may result in fluid accumulation in the chest and abdominal cavity as well as depletion of fluid from the circulation and decreased blood supply to vital organs . [19] There may also be organ dysfunction and severe bleeding , typically from the gastrointestinal tract . [13] [19] Shock (dengue shock syndrome) and hemorrhage (dengue hemorrhagic fever) occur in less than 5% of all cases of dengue; [13] however, those who have previously been infected with other serotypes of dengue virus ("secondary infection") are at an increased risk. [13] [30] This critical phase, while rare, occurs relatively more commonly in children and young adults. [25] The recovery phase occurs next, with resorption of the leaked fluid into the bloodstream. [19] This usually lasts two to three days. [13] The improvement is often striking, and can be accompanied with severe itching and a slow heart rate . [13] [19] Another rash may occur with either a maculopapular or a vasculitic appearance, which is followed by peeling of the skin. [25] During this stage, a fluid overload state may occur; if it affects the brain , it may cause a reduced level of consciousness or seizures . [13] A feeling of fatigue may last for weeks in adults. [25] The rash of dengue fever in the acute stage of the infection blanches when pressed The rash that commonly forms during the recovery from dengue fever with its classic islands of white in a sea of red. ... United States Centers for Disease Control and Prevention. 28 March 2016 . Retrieved 27 April 2018 . ... Archived from the original on 4 December 2014 . Retrieved 28 November 2014 . ^ a b c d e f g h i j k l m n WHO (2009) , pp. 25–27. ^ a b c d e f g h i j Whitehorn J, Farrar J (2010).
    CD209, PTPN11, SENP8, TNF, ERVK-6, IFNG, IVNS1ABP, IL10, ERVK-32, IFNA1, IFNA13, IL1B, PLAAT4, LSAMP, HLA-A, LAMP3, IFIH1, DDX58, HLA-DRB1, ROBO3, ERVW-1, IL6, PDR, ERVK-20, CLEC5A, CXCL10, CXCL8, IL4, CRP, GPT, RAF1, CCL5, MICB, VEGFA, CDK9, KRAS, RSAD2, MBL2, THBD, GP1BA, OAS3, RHD, ALB, FCGR2A, SARS1, PLCE1, HLA-C, FBXW7, SARS2, CCR5, SOAT1, RBM45, TNFSF10, TLR8, OAS1, MPZ, IFITM3, IFNAR2, CSPG5, IGHG3, CCL4L2, KDR, HPSE, EIF2AK3, KIR2DL1, PF4, SLC17A5, SPHK1, IL18, HAVCR1, MYOM2, KIR3DL1, KIR3DS1, TIMELESS, PMP22, IL1RN, ADAMTS13, PADI4, LGALS9, HSPA5, HLA-B, NLRP3, VDR, TAP2, MIR21, IFNL1, DHX9, ATN1, EGFR, CCL4, CCL3, CCL4L1, CCL2, ARHGEF5, FASN, THPO, RNASEL, RNASE1, CD40LG, STING1, TLR3, TAP1, GEM, PTGS2, MAVS, GZMB, TLR4, CFH, NR0B1, MBTPS1, CHST10, S1PR2, TXNRD1, TNFRSF10B, TTN, TSC2, HSP90B1, TPM4, IKBKE, TPI1, NUP153, SH2B3, VCAM1, P2RX6, PIWIL1, AURKB, PTPRU, HSD17B6, SQSTM1, USO1, MKNK1, APOL1, STAM, MGAM, HAP1, MOGS, SOCS3, CNBP, CLDN1, XBP1, VWF, VIM, IL1RL1, DNM1L, SERPINA3, RCL1, TIRAP, PIWIL4, NRSN1, TRIM69, EGFLAM, LRG1, CGAS, IL17F, GORASP1, IL33, HELZ2, MAGT1, DHX40, MAPKAP1, DDX50, RNF168, STT3B, MARCHF8, MIF-AS1, PRSS57, MIRLET7E, MIR146A, MIR378A, MIR484, NCF1, MIR744, KIR2DS2, LINC01672, MICA, P2RX5-TAX1BP3, PERCC1, MTCO2P12, WNK1, SMOC1, NOD1, TMED2, ARC, P2RX2, RAB18, MLXIP, CHP1, TPPP, LILRB1, GOLPH3, CERS1, OLFM4, AGPAT1, PRDX4, PROCR, NXF1, EXOC7, GRIP1, SEC14L2, SMUG1, NAAA, APEX2, MYLIP, NPC1L1, TRAT1, UBE2J1, SIRT6, RETREG1, SPHK2, AICDA, RPTOR, TRPV4, HPSE2, TP53, REL, TM7SF2, ILF2, GLS, GDF1, GC, GATA3, GAS6, GAPDH, GABPA, G6PD, IFI6, FLNB, FCGR3B, FCGR3A, FCGR2B, FCGR1A, F5, CXCR3, HGF, HLA-DQA1, IFNB1, IL6R, IL4R, IL3RA, IL2RA, IL2, IL1A, IFNAR1, HLA-E, ICAM3, HSP90AA1, HSF1, HP, HMGCR, HMGB1, ESR2, ESR1, ERN1, KLK3, CAT, BST2, BID, BCL2, BAK1, ARNTL, APRT, CD14, ANXA5, ANXA2, ANGPT1, AKT1, AHR, ADAR, CD9, CD33, ERBB4, CTLA4, ERBB2, ELAVL1, EIF4E, DDX6, DAXX, CYMD, CSF2, CD38, CLDN7, CP, CCR1, CEACAM8, CEBPB, CD69, IL11, ILF3, TLR2, INSR, PRNP, MAP2K1, PRKAB1, PRKAA2, PRKAA1, PPP2R5E, PLAT, PIK3CG, PIK3CD, PIK3CB, PIK3CA, SLC25A3, PAH, P4HB, P2RY2, RAB6A, ABO, REG1A, STAT3, TLR1, TGFB2, TGFB1, TCF7L2, SYT1, SYK, SSB, RELA, SPP1, SMARCB1, SI, SELE, CXCL11, SCD, P2RY1, P2RX7, P2RX5, KLRC1, MATK, CAPRIN1, LTA, TNPO1, KPNA2, KPNB1, KIR2DS5, CXCL9, KIR2DS1, KIR2DL3, ITGAX, IRF7, IRF1, INSRR, MFAP1, MMP2, P2RX4, NFKB1, P2RX3, P2RX1, OAS2, CNOT2, NOS3, NFYA, NFE2L2, MMP9, NCL, MYD88, COX2, COX1, MPL, MNT, H3P19
    • Dengue Fever Mayo_clinic
      Overview Dengue (DENG-gey) fever is a mosquito-borne illness that occurs in tropical and subtropical areas of the world. Mild dengue fever causes a high fever and flu-like symptoms. The severe form of dengue fever, also called dengue hemorrhagic fever, can cause serious bleeding, a sudden drop in blood pressure (shock) and death. Millions of cases of dengue infection occur worldwide each year. Dengue fever is most common in Southeast Asia, the western Pacific islands, Latin America and Africa. But the disease has been spreading to new areas, including local outbreaks in Europe and southern parts of the United States. Researchers are working on dengue fever vaccines. For now, in areas where dengue fever is common, the best ways to prevent infection are to avoid being bitten by mosquitoes and to take steps to reduce the mosquito population.
    • Dengue Fever Orphanet
      Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). Epidemiology DF is found in the tropics worldwide, especially in Southeast Asia, the Pacific region, and the Americas, with 40% of the global population at risk. An estimated 50 to 100 million cases of DF, 500,000 hospitalizations, and 20,000 deaths occur yearly worldwide. Clinical description The vast majority of dengue virus infections result in DF, which is characterized by sudden onset of fever, malaise, headache (classically retro-orbital), and myalgia/arthralgia, often followed soon after by a petechial rash, which may be pruritic. In most cases, symptoms will resolve within 7 days without further complications.
  • Breast Cancer Omim
    Among the sisters of women with breast cancer, Anderson and Badzioch (1985) found the highest lifetime risks when the proband had bilateral disease, an affected mother (25 +/- 7.2%), or an affected sister (28 +/- 11%). The risks were reduced to 18 +/- 3.3% and 14 +/- 2.6%, respectively, with unilateral disease. ... Marger et al. (1975) presented the cases of 2 brothers with breast cancer and reviewed the courses of 28 other previously unreported male patients.
    PALB2, XRCC2, RAD51D, ATM, BRCA1, BRCA2, CHEK2, BARD1, RAD50, NBN, SLX4, MLH1, MRE11, MUTYH, RAD51C, CHEK1, RECQL, PPM1D, MSH6, CDH1, MSH2, MCPH1, RAD54L, KLLN, GEN1, SLC22A18, PIK3CA, PMS2, RINT1, EPCAM, RAD51, RET, TP53, BRIP1, ERBB2, ESR1, PTEN, BRCA3, FANCM, PARP1, COL11A2, XRCC1, ARL11, MDM2, RASSF1, NLRP2, TSG101, STK11, GADD45A, PHB, IGF1, HSD17B2, CYP17A1, BACH1, BLM, EMSY, TCF7L2, MGMT, CYP1A1, PRL, FANCI, MYLIP, RTEL1, MTUS1, UIMC1, VEGFA, MARCHF8, GSTP1, FANCD2, AKAP13, MLXIP, FGFR2, HSD17B1, CD44, WRN, CASP8, POLQ, BRD7, PPARGC1A, TOPBP1, DICER1, WIF1, FOXP1, MAST1, BABAM1, AKAP10, AATF, KLK14, FOXD3, TOX3, HPGDS, RHOBTB2, FANCB, CT55, KRT88P, MIR1179, ANGPT2, CD24, MIR499A, MIR17HG, MIR30C2, MIR30C1, MIR27A, MIR21, MIR17, APC, PPARGC1B, AR, FANCL, ABRAXAS1, ATR, PIF1, CCND1, ARHGEF28, CLSPN, BCORL1, BUB1B, VPS51, SH3RF1, CASP10, TEX15, LHFPL6, BRAP, SAFB2, RECQL5, NFKB1, CYP19A1, MYC, MTHFR, MSR1, MSH3, EGFR, EP300, KMT2A, ERCC4, MDM4, FANCA, LSS, KRAS, JAK2, CXCL10, IGFBP3, HTC2, HRAS, TLX1, HMGA1, HIF1A, GSTT1, GSTM1, SFN, FOXC1, FHIT, PER1, ABCB1, CYP2D6, CDKN2A, SLC9A3R1, PDLIM7, EXO1, CLDN1, PER2, LMO4, CAV1, CCND2, XRCC3, UCHL1, TTK, TPD52, TM7SF2, POLH, TGFBR1, TEK, SULT1A1, SOAT1, SAFB, CENPE, ANGPT1, RCC1, RAD51B, COMT, PTPRG, CTNNB1, PSC
    • Hereditary Breast Cancer Orphanet
      A rare genetic gynecological tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of BRCA1 and BRCA2 mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most BRCA1 -associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, BRCA2 -associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar.
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Omim
    She later developed chronic sinopulmonary infections, including tuberculosis, and hepatobiliary disease, and died of viral leukoencephalopathy at 40 years of age. The second patient was a healthy 28-year-old man with normal immune function who was identified after his niece died of SCID. ... Alleles found only in healthy individuals with partial deficiency showed 1 to 28% of normal activity. In all, the activity levels spanned 5 orders of magnitude.
    ADA, PKIG, CD34, PAEP, DPP4, FUT1, IL2RG, TLR2, PNP, DCLRE1C, NT5C2, UROD, RAG1, NT5E, ITPA, JAK3, ADCP1, IL7, IL3, ENTPD1, CALCA, ADSL, ADK, LINC02605
    • Adenosine Deaminase Deficiency Gard
      Adenosine deaminase deficiency (ADA deficiency) is an inherited condition that damages the immune system and is a common cause of severe combined immunodeficiency (SCID) . People with SCID due to ADA deficiency are unable to fight off most types of infections, including bacterial, viral and fungal infections. Most people with ADA deficiency develop symptoms before 6 months of age. The earliest symptoms of ADA deficiency include pneumonia, chronic diarrhea, widespread skin rashes, slowed growth, and/or developmental delay. Some people with ADA deficiency will develop symptoms later in life. The symptoms in the late-onset form are typically milder than in the form that occurs in infancy.
  • Igg4-Related Disease Wikipedia
    Reported cases do include some significant symptoms or findings however: System Uncommon symptoms and complications Neurological Seizures , [7] [8] paralysis or hemiparesis , [7] cranial nerve palsies , [7] sensorineural hearing loss , [9] pituitary hormone deficiencies [10] Eye Loss of vision, [7] proptosis [11] Cardiovascular Constrictive pericarditis , [12] heart block , [13] ruptured aortic aneurysm , [14] [15] aortic dissection , [16] carotid artery dissection , [17] intracranial aneurysm , [18] angina , [19] sudden cardiac death [20] [21] Respiratory Airway obstruction , [22] pleural effusion [23] [24] Gastrointestinal Esophageal obstruction, [25] [26] bowel obstruction [27] Urological Renal failure , [28] hydronephrosis , [28] [29] testicular pain [30] Individual organ manifestations [ edit ] IgG4-RD can involve one or multiple sites in the body.
    LAT, SMUG1, IL6, TGFB1, CCL18, IL1B, IL2, IL10, POSTN, TNFSF13B, ADA, YWHAZ, TLR7, AICDA, SLAMF7, IL33, HT, MARCO, SDC1, VEGFA, ANXA11, PLA2G1B, LTF, IL4, IL1A, IFNG, NR3C1, ENO1, CCR8, PLB1
  • Glioblastoma Wikipedia
    Features of IDH-wildtype and mutant glioblastoma [28] IDH-wildtype glioblastoma IDH-mutant glioblastoma Synonym Primary glioblastoma Secondary glioblastoma Precursor lesion Identified de novo Diffuse astrocytoma Anaplastic astrocytoma Proportion of glioblastomas ~90% ~10% Median age at diagnosis ~62 years ~44 years Male:Female ratio 1.42:1 1.05:1 Median length of clinical history at diagnosis 4 months 15 months Median overall survival Surgery + radiotherapy 9.9 months 24 months Surgery + radiotherapy + chemotherapy 15 months 31 months Location Supratentorial Preferentially frontal Necrosis Extensive Limited TERT promoter mutations 72% 26% TP53 mutations 27% 81% ATRX mutations Exceptional 71% EGFR amplification 35% Exceptional PTEN mutations 24% Exceptional Molecular alterations [ edit ] Four subtypes of glioblastoma have been identified based on gene expression: [29] Classical: Around 97% of tumors in this subtype carry extra copies of the epidermal growth factor receptor ( EGFR ) gene, and most have higher than normal expression of EGFR , whereas the gene TP53 (p53), which is often mutated in glioblastoma, is rarely mutated in this subtype. [30] Loss of heterozygosity in chromosome 10 is also frequently seen in the classical subtype alongside chromosome 7 amplification. [31] The proneural subtype often has high rates of alterations in TP53 (p53), and in PDGFRA, the gene encoding a-type platelet-derived growth factor receptor , and in IDH1, the gene encoding isocitrate dehydrogenase -1. ... Cure is thought to occur when a person's risk of death returns to that of the normal population, and in GBM, this is thought to occur after 10 years. [82] UCLA Neuro-oncology publishes real-time survival data for patients with this diagnosis. [83] According to a 2003 study, GBM prognosis can be divided into three subgroups dependent on KPS, the age of the patient, and treatment. [84] Recursive partitioning analysis (RPA) class Definition Historical Median Survival Time Historical 1-Year Survival Historical 3-Year Survival Historical 5-Year Survival III Age < 50, KPS ≥ 90 17.1 months 70% 20% 14% IV Age < 50, KPS < 90 11.2 months 46% 7% 4% Age ≥ 50, KPS ≥ 70, surgical removal with good neurologic function V + VI Age ≥ 50, KPS ≥ 70, surgical removal with poor neurologic function 7.5 months 28% 1% 0% Age ≥ 50, KPS ≥ 70, no surgical removal Age ≥ 50, KPS < 70 Epidemiology [ edit ] About three per 100,000 people develop the disease a year, [3] although regional frequency may be much higher. [85] The frequency in England has doubled between 1995 and 2015. [86] It is the second-most common central nervous system cancer after meningioma . [11] It occurs more commonly in males than females. [2] [3] Although it most often begins around 64 years of age, [2] [3] in 2014, the broad category of brain cancers was second only to leukemia in people in the United States under 20 years of age. [87] History [ edit ] The term glioblastoma multiforme was introduced in 1926 by Percival Bailey and Harvey Cushing , based on the idea that the tumor originates from primitive precursors of glial cells ( glioblasts ), and the highly variable appearance due to the presence of necrosis, hemorrhage, and cysts (multiform). [88] Research [ edit ] Gene therapy [ edit ] Gene therapy has been explored as a method to treat glioblastoma, and while animal models and early-phase clinical trials have been successful, as of 2017, all gene-therapy drugs that had been tested in phase III clinical trials for glioblastoma had failed. [89] [90] [91] Scientists have developed the core–shell nanostructured LPLNP‐PPT for effective gene delivery and tracking, with positive results.
    EGFR, PTEN, MTOR, H3-3A, FN1, NF1, HIF1A, MDM4, CXCL8, CTSB, MET, TP53, PROM1, MGMT, NOTCH1, TNFSF10, IL1B, PDGFRA, MMP2, MMP9, BMI1, VEGFA, CHI3L1, MYC, EGF, IL2, NOTCH2, H2AX, GDNF, PTK2, PRKN, TP53BP1, CDK6, WT1, CTSK, TGM2, NDRG1, APC, RECK, JAG1, H3C2, HEY1, LZTR1, RUNX1, BRD2, TES, CD9, DAXX, PML, RUNX3, BHLHE40, PIM1, FAT1, GSTT1, SRRT, BRD4, POLK, SUZ12, SEPTIN14, NOTCH3, FOSL2, HES1, DUSP6, BCHE, LTBP4, JAG2, IFNA2, CSTA, GRIK2, ZBTB7A, TRMT11, CSTB, TMEM135, MACIR, CTNND2, DEUP1, SLC22A10, LRRC59, PTGS2, NCOR1, CCNH, BAG3, CPEB1, ADGRL4, SERPING1, PTGS1, PIK3CA, MYCN, IL16, ATM, FGFR1, BRAF, IDH1, MSH2, RTEL1, PMS2, PIK3R1, NRAS, CCDC26, FBXW7, POLE, HRAS, DNMT3A, SSBP2, POLR3B, CDKN2B-AS1, CDKN1B, RAVER2, IFNB1, SLC12A9, IFNG, TNF, CDKN1A, MIB1, HSPA4, IGF1, HEATR3, CD34, CDKN2A, CDK4, IDH2, PDCD1, HSPB1, FGF2, IGFBP2, CASP8, SERPINE1, TNC, HSP90AA1, HTC2, CASR, CAV1, GFAP, CDKN2B, AHSA1, PRKAR1A, PRKCA, PRMT5, YAP1, MYCNOS, OLIG2, TRIM13, ROS1, AIMP2, HDAC6, NR1I3, MAPK1, MAPK3, MAPK8, GDF15, ABCG2, GRAP2, ERBB2, HMGA2, EPHB2, HGF, PTN, E2F1, MBD2, H3-3B, TNFRSF10B, EPHA2, RAC1, MSH6, CIB1, CXCR4, CD274, CXADR, CXCL12, SETD2, PDGFRB, PTK2B, PDCD4, CCL2, POLDIP2, RNF19A, VIM, SLC16A8, ABCB1, RHBDF1, PIK3CB, F3, PIK3CD, PIK3CG, TBC1D9, PKM, PLAU, CREBBP, CRK, MAPK14, CSF2, POU5F1, PPARA, EZH2, NES, CTNNB1, WNT5A, COL11A2, CD44, CASP3, FOXM1, AKT2, IL13, AZIN2, AKT1, MIR221, ATRX, COX2, IL6, MIR21, KDR, STAT1, TGFB1, BAX, TGFB2, SPG7, IL13RA2, MIR222, TERT, GADL1, GJA1, ZEB1, GABPA, MCL1, ALK, SPP1, MIR34A, C11orf65, MDM2, GLI1, BCL2, CCND1, NFE2L2, MIR10B, KIT, MMP14, TSPO, ACTB, MIR137, ABCC1, LGALS1, MKI67, RTEL1-TNFRSF6B, COL18A1, MIR4300HG, ITGA5, ARR3, LOC110806263, H3P10, MIR145, HOTAIR, ANGPT1, AQP4, POU5F1P4, STAT3, CA9, SOX2, MSH3, PARP1, CXADRP1, LIG4, MIR203A, MSI1, POU5F1P3, ANGPT2, APOE, AURKA, MALAT1, ANXA2, APEX1, MLH1, S100A4, CCN2, STAT5B, PPARG, AXL, FLT1, IL4, RELA, RAD51, WNK1, MTCO2P12, NANOG, CCK, IL1A, THBS1, ACKR3, NRP1, HSPB3, AKT3, KLF4, DNMT1, ITGAV, HDAC9, CDK1, DMBT1, TNFRSF12A, SLC2A1, HSPB2, CD47, FOXO3, TMED7-TICAM2, HMGB1, KLRC4-KLRK1, SYT1, ATF5, BECN1, PTPRZ1, XRCC6P5, KLRK1, LILRB1, PLK1, GORASP1, FAS, WEE1, PTPN11, MAP2K7, MIR210, AHR, EPO, RALBP1, TACC3, GSK3B, SIRT1, NFKB1, FOLH1, TMED7, IDO1, TICAM2, PCNA, GLS2, PAX6, OSM, IFNA1, IFNA13, MXI1, IGF1R, CCNB1, TLR4, EPAS1, CCN1, TP73, DECR1, ELAVL2, CDK2, MIR7-1, FOXO1, HSPA5, H3P23, CASP9, ZNRD2, POSTN, TIMP2, PRNP, EDNRA, PSMD9, BRCA1, MIR340, TIMP1, TGFA, SMAD2, TXN, ADM, MIR146B, IFI27, SOCS3, EGR1, NR1I2, SLC16A1, SOX9, HMGA1, CRYAB, DCTN6, MIF, XIAP, KDM1A, CTSL, CSPG4, VDAC1, SMN1, CEBPB, CTLA4, SMN2, TAZ, CXCR6, SMUG1, MIR139, SESN2, PECAM1, ARHGEF7, SPHK1, SQSTM1, KRAS, IL10, ADARB1, CMA1, FASLG, HDAC1, MIR181D, POLD1, SLC7A5, SOD1, ATN1, GHRH, PLG, BCL2L12, CREB1, GSN, KLF6, GSTP1, NTRK1, GOLPH3, MIR182, SOAT1, TACR1, FGFR3, EDN1, PLAUR, NOS2, EPHA1, MRC1, CD276, RIPK1, LGALS3, EPHA3, GLS, STAT5A, HMOX1, MIR7-3, SNAI2, PRKDC, MIR148A, ROCK1, TFPI2, NUDT21, ILK, BCL2L11, LINC01194, ALDH1A3, MIR7-2, HSPA1B, MCTS1, JUN, CCNO, ESR2, CDC42, MCAT, HSPA1A, CLIC1, PRKAA2, APP, TWIST1, MIR338, SMAD3, TTK, PAEP, MIR326, MIR29A, FABP7, RRM2, SRC, TAC1, SSTR4, SREBF1, SOD2, GPR42, UQCRFS1, REST, TIMP3, F2R, GLI2, RPS27, VEGFC, FOSB, CCL5, TFRC, SLC12A2, SPARC, ERCC1, ERBB3, TOP1, TOP2A, SNAI1, SAI1, FOS, WWTR1, IDUA, ICAM1, IGFBP3, MIR195, MFAP1, NDRG2, NTSR1, NUP98, APRT, TRPM7, CDC20, LIN28A, GDE1, MIR296, HSF1, MDK, NOX4, ADGRE2, MIR31, EEF2K, NT5E, CALR, HPGDS, MIR155, ASL, ASAH1, MIR143, STS, MPEG1, PDIK1L, GSC, MIR146A, PRRT2, MMP1, DNER, MTDH, NF2, BRS3, BSG, WNT3A, BUB1B, IL4R, NXT1, PDGFB, ALOX5, MRPL28, EBI3, PRKCI, L1CAM, COMMD3-BMI1, LRIG2, ATG5, H3P9, HLA-A, HK2, CD163, LAMC2, LPAR2, SLC16A3, SLC16A4, IL18R1, ABCC3, PVR, ELK1, RAF1, BBC3, TUBB3, PRKAB1, PDPN, LAT, LRIG1, CCR5, PFKFB3, PGR, ALB, COX8A, MAOB, FSTL1, MIR134, GLIPR1, SUB1, STAG2, ADRA2B, ADRA1A, PRKAA1, LEP, JUND, JAK2, GLB1, LIMK1, MST1, JUNB, RBL2, MTAP, NBN, PTBP1, GRN, GRIA1, HMMR, PRKCB, S100B, PTPA, HOXA9, SATB1, PDK1, SGK1, SH3GL2, SKP2, GLUL, PRDX1, P4HB, RB1, IGF2, NTS, NFKBIA, SLC22A3, NEFL, IL17A, SMARCB1, NCL, CXCL10, NCAM1, LGI1, LDLR, SOS1, TLR9, FOXP3, LEF1, PHF20, TRPV2, CD151, ADGRE5, CD70, CD68, TIGAR, CD40, RMDN3, TNFRSF19, NLRP2, PBK, AJAP1, METTL3, CEACAM5, CHEK1, SLC7A11, KCNH4, MELK, USP15, NAMPT, MERTK, TRIM3, CX3CR1, SPINT2, HPSE, DSTN, CSF3, WIF1, CHEK2, MMRN1, NT5C2, PHLDB1, SPHK2, SEMA6A, IKBKE, MIR223, ASCL1, MIR144, ARRB1, MIR149, MIR183, AR, AQP1, MIR29B1, GAS5, MIR485, MIR504, ADARB2, MNX1-AS1, MAGED4, LINC01672, SERPINA3, MIR141, MIR100, ADGRB1, CAVIN1, LRRC4, TRPM8, CAPG, SLC52A2, TET1, CALCR, DDR1, ARHGAP24, BUB1, KLF9, KCNH8, CD109, BDNF, PWAR1, BCAT1, HDAC4, NOP53, TUSC3, FCGR2B, TEP1, KAT2B, FOXG1, TNFAIP3, CFLAR, TNFRSF1A, LGR5, EFEMP1, FLT3LG, TYMS, EMP2, EMP3, VTN, XIST, USP9X, TFEB, DUSP1, ESR1, ADAM17, SP1, DRD2, STAT6, MIR29B2, USP1, AGAP2, PRAP1, LRIG3, TRPV1, VCAM1, NEDD9, STC1, MIR454, CBLL2, LIF, HOXA11-AS, ASPM, ATP23, ORAI1, NFATC2, MAGED4B, SEMA3B, MUL1, WLS, ZFP36, S100A1, XRCC3, TRIM8, LOX, S100A9, TCHP, BEX2, S100A10, ST13, HAVCR2, TEAD1, LRP1, MIR17HG, SLC9A9, MIR18A, MIR181C, MARCKS, MIR451A, MIR186, TGFBI, MIR370, MIR330, MIR197, MIR20A, MIR205, MIR219A1, MIR135B, MIR224, MIR299, MIR154, MIR152, MMP3, MIR125A, MACC1, MTHFR, SKI, MIR106A, MIR10A, MSN, MIR126, TEK, FTO, MIR142, TRPM2, SLC2A3, TRAF2, MMP12, TSC1, GGPS1, NPM1, MPRIP, PODXL, H3C7, PDCD10, OIP5, APLN, KDM6B, CIC, PIN1, DICER1, RPS6, SIRT3, MBTPS1, PHF3, CBX7, CDK20, PGF, CORO1C, TRADD, FAM107A, OSMR, BUB3, IL24, MAPK9, WTAP, PROX1, KMT2B, LGMN, KLK6, ZEB2, AIM2, MVP, ABCB6, NTN1, COX5A, SEMA3C, SLC9A3R1, AIMP1, KHDRBS1, AURKB, DKK3, PTPRD, SGSM3, XAF1, SLC22A18, ALKBH5, H3C4, H3C1, FZD7, RNASE3, TAM, LINC00470, YEATS4, ROBO1, GOPC, KMT2D, MRTFA, CXCL16, NTN4, BCAR1, MARCKSL1, H3C3, DLL4, PYCARD, ERRFI1, EIF3B, SOX4, IL22, SOCS1, ASCC1, EXOSC3, ANGPTL4, PDGFA, H3C10, H3C12, RNF138, MPC1, H3C8, WWOX, PAK1, H3C11, H3C6, A1BG, H3P40, VPS51, BCL2L2, BIRC3, FASN, IL2RA, BIRC5, BCL6, FPR1, ITGA7, AIF1, BNIP3, FUS, APAF1, IKBKB, DOCK1, CSF1R, IGFBP7, DRD5, DSC3, SEPTIN7, GBP1, HBEGF, CTSD, ANXA7, GLI3, HLA-G, INPPL1, CCND3, FGFR2, ING1, CCND2, DGKA, DCN, VEGFD, CYP27B1, CYP19A1, ANXA5, ITGA6, FKBP4, BMP4, BMP7, GADD45A, ANG, DDIT3, FDPS, IRS1, ETS1, GAPDH, CCNE1, ERBB4, CALM2, KPNA2, EMX2, CALM3, CNR1, EMP1, MARK2, ID4, ENG, EIF4EBP1, BTK, CDH11, CPOX, CALM1, ATR, ADAM10, COL3A1, GRIA2, ASS1, ESRRB, RND3, AXIN2, LRG1, AXIN1, SNORD35B, THEM4, SPZ1, FZD6, OLIG1, CRISP2, CCT3, TRAF6, SPPL3, RNF135, MINDY4, TPM3, MAGT1, TMPRSS13, ELF4, NMS, BMP2, IMMP2L, FGF13, RAD54L, FSD1L, EPHA4, SNORD14B, MIA, XPO1, WIPF1, BRCA2, CLDN5, PYGO2, BTC, LMLN, ST8SIA4, F10, XRCC1, ETS2, DAP3, YY1, SNORD14E, SNORD14D, VWF, EZR, EPS8, UMOD, TYR, SNORD14C, UCN, USP5, UGCG, FOSL1, ADAM12, FAAH, MCM3AP-AS1, FAP, VCP, RIOX2, VDR, ERN1, SUMO1, PPP1R13L, DCBLD2, TM7SF2, SFRP4, GNRHR, MGR3, SHC1, SIAH1, GMFB, SLC3A2, SLC5A5, SBF2-AS1, SLC9A1, SHPRH, GLUD1, PTF1A, SMARCA1, CTAG1A, SNCA, FSCN1, FOXK1, GFPT1, SOX3, GATA6, SELP, FREM2, ACTBL2, S100A11, ATP1B2, RPS6KA3, RPS6KB1, RPS15A, MIRLET7D, RRAD, MIRLET7B, RSU1, CXCR3, GPI, CXCL11, SAA1, ATP7B, TSPAN31, SAT1, GSTK1, CCL3, CCL4, CCL8, CCL11, GATA4, SOX11, GATA3, TFF3, TDO2, PRDX2, FMOD, FLT4, TERF1, PRIMA1, TF, TFAM, NR2F2, FKBP5, TDGF1, GPR65, TGFBR2, FHL2, FHIT, TIMP4, TLR1, TLR3, NR2E1, SLCO6A1, TDGF1P3, TRBV20OR9-2, PRSS55, BCL2L1, SPAST, GAS1, SPINT1, TET3, SRPK1, GAB1, XRCC6, SLC37A4, G6PC, FUT4, TCF7, STIM1, BCL3, SULT1A1, SYP, FRZB, TAPBP, RMDN2, CNTN2, HNF1A, TGFBR1, TNFRSF10A, PIK3R3, SYBU, METAP2, SLC27A3, RIPK3, TENT4A, ADAMTS5, PTPRT, NLGN3, PTP4A3, CD63, NANS, SHC3, ZHX1, KLF8, VSIG4, ACOT7, INPP5K, TUSC2, CD74, CRP, RAB3GAP1, SCAP, TET2, STIP1, CTAG1B, CD36, POMGNT1, PDLIM5, MEG3, IGF2BP2, CD86, IMP3, NEIL3, EBP, NFAT5, PLK4, ENTPD5, CEP55, PLK2, NEU3, PID1, FGL2, MKS1, ELOVL2, MALT1, ENTPD1, SNW1, DKK1, PTGR1, 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TRIP6, CKB, LOXL1-AS1, HNRNPA2B1, ALDH3A1, MIR96, ITGAM, MIR99A, MIR1275, ALDH1A1, PPP1R1A, PIM3, MMP15, MMP16, PPIA, HOXA@, CD200, MPL, MIR34C, ALCAM, HOXA10, HOXA11, ITGA2, AHSG, MIR328, TNRC6C-AS1, MSMB, MIR331, HOXB2, AGAP2-AS1, PLEK, HOXB3, APLNR, ALPI, ALPP, PTPN12, ITIH4, MBP, MC4R, PTPN2, KCNH2, CD46, MIR200C, MIR204, BCL2L2-PABPN1, HK1, PTCH1, ASIC1, ME1, HLA-C, MEFV, HOTAIRM1, MIR3189, HLA-DPB1, PROS1, MIR23A, MIR27A, MGP, HLA-DRB1, MAP2K6, MAP2K1, AMFR, MIR29C, ITGB4, MIR30A, MIR30B, PRKD1, MIR339, AGT, PKD1, NFIA, NEDD8, MIR663A, NELL1, PDE1C, ADCYAP1R1, NEO1, NEU1, NFATC1, MIR503, PAX5, CXCR2, HTR7, IAPP, MIR486-1, MRPL58, MIR940, POTEM, ID1, ID2, CXCR1, MIR622, NGF, NNMT, NOS1, UCA1, H3P38, IGFBP4, IGFBP5, YBX1, RBPJ, ACTN4, PRMT1, NAP1L1, MYT1, MIR196B, HOXB7, HOXB8, MIR376A1, HOXC6, MIR378A, HOXC10, IRF3, MIR873, NUDT1, MIR425, MTTP, MTR, SERPINA1, PHB, MIR744, PGK1, HP, ACTC1, ACTG1, PFKM, MIR20B, ACTG2, MIR431, AEBP1, HPGD, ENPP1, MIR409, HPR, HELLS, POTEKP, RASGRF1, MIR132, GTF2H1, RAC3, SMAD4, RFX1, LBR, TRIM27, LCN2, GSR, MIR17, RFC4, ARG2, RET, RAP1B, RHOA, LDHA, AREG, LYN, ABCA1, GRP, RECQL, ABL1, LEPR, PLAAT4, PDIA3, KPNB1, MNS16A, ARSA, LAG3, GRPR, KDM5A, SNORD15A, ACACA, MIR191, AQP9, MIR127, NECTIN1, MIR190A, ARAF, ROBO3, CHRM3, SNHG9, CDH19, LUZP6, AVEN, TRBV9, MIR758, SLC17A7, FNDC3B, NKIRAS2, MIR671, AKR1B10, CCNG2, TRIB2, CCT6A, CCR2, CEACAM7, NBAT1, MIR579, SCYL1, SNORD118, AICDA, VANGL2, TP73-AS1, MCOLN1, ZMIZ1, CREB3L2, CEACAM3, D2HGDH, SLURP1, CHAT, PLXDC1, CD248, POTEF, RAB25, CHPT1, PMEPA1, BIRC6, CDX2, EIF5A2, AAVS1, BCCIP, MIR877, MIR577, NIBAN2, NT5DC2, PRMT8, ICOS, CDSN, PARD3, MIR574, GKN1, LRRC8A, ABO, PDGFC, MRPL41, CD3D, POLE4, DHX33, MUC13, PNO1, BDH2, HIPK2, DPYSL5, RAD18, CFTR, MIMT1, GINS3, CD1C, CEBPA, AGO2, MIR300, MIR876, CTNNA3, CHUK, RETN, SAR1A, RABGEF1, MIR582, GPR158, PJA1, MIR613, RNF123, SERP1, MIR627, H3P5, MIIP, RINT1, NIF3L1, CHRM2, CBL, SAV1, SOX17, TGIF2, NFKBIZ, HPLH1, RND1, ADAMDEC1, CASP5, ARHGEF28, ELMO2, MIR603, KIF9, MIR590, IL17B, IFIH1, TINAGL1, MIR595, MIR598, TNMD, TNN, MIR605, TENT4B, SAMSN1, CAV2, MIR610, NPAS3, ERVK-6, LGR6, RXFP1, SERPINH1, MIR652, ANKRD36B, MIR648, CD8B, TSHZ3, CBS, ANGPTL3, MIR92B, PCDH10, MARK4, RPS6KA6, MIR656, CCNA2, CASP1, SRGAP1, UBE2S, TNS3, MIR589, MIR641, RBMS3, CBR1, IL21, MMP25, VPS4A, H3P42, IL22RA1, DLGAP3, PLEKHB1, SIGLEC9, MIR630, H3P30, BHLHE22, PTBP2, CASP2, C6orf47, POLD4, SUGP1, STIM2, CSAD, RN7SL263P, PCAT1, CD58, CCHCR1, KRT20, ATAD2B, EGFL7, CDK3, MIR3666, HERC5, RIN2, MIR3908, TERF2IP, ERVK-18, GAPLINC, TREM2, ACP1, HIF1A-AS1, MZB1, LOC100505909, CD69, JPT1, EGLN1, MIR4284, PPP1R12C, DYM, NDUFA13, AHI1, MIR1238, TRIT1, MIR1179, MIR1908, LINC-ROR, ACP3, ERVK-25, ADIPOR1, HOXB-AS1, ERVK-24, TRIM44, IL17RD, CD40LG, OTUD4, DDX56, GSAP, DUOX1, MIR1246, S1PR5, STYXL1, RASD1, TRMT6, ASIC2, MIR4443, CHST15, ACAT1, CDC25A, MIR4758, CDC25B, HDAC7, ANGPT4, NCKIPSD, MIR4484, LCMT1, CDC25C, ERVK-10, ERVK-9, ERVK-21, ERVH-4, CYB5R2, NLK, STK26, GOLM1, SLC15A3, LINC00645, LRP1B, GALNT7, MAP3K20, KCNK9, TRG-AS1, MIR4429, ACSL5, LINC01132, ADAMTS9-AS2, RPL17-C18orf32, ERAP1, SLC25A37, ERVK-20, CDH5, CD79B, MIR1270, MIR1287, SULF2, PI4K2A, MS4A1, PSAT1, CDS1, BTBD2, MIR297, C20orf181, CERNA3, PERCC1, TPTEP2-CSNK1E, ZCCHC8, CDCA7L, ASIC4, CD22, TAX1BP3, SIK1B, G0S2, MIR6798, CD28, TMEM176A, MIR543, MIR885, NSUN5, HILPDA, FOXD1-AS1, RCC2, LANCL2, CMAS, MIR4516, KMT2E, ACSS2, CD14, MIR374B, CD19, CERS2, RIOK2, ERVK-19, TDP1, AP5M1, HHAT, MIR708, WDR11, CDO1, UBE2R2-AS1, PI15, HJURP, AGGF1, ANO1, RTN4R, STMN3, MIR513C, IFT57, FEZF2, EPN3, CD38, CDKN2C, CDKN1C, TUG1, TESC, ULK4, MIR1468, FOCAD, COMETT, APOBEC3A_B, MIR1288, HEATR1, MTPAP, F11R, MIR1224, LAPTM4B, SLC39A9, KIR2DS2, DRAM1, ACACB, ZNF654, CD24, ADI1, HMMR-AS1, ASAP1, TRAP, STEAP3, SAMMSON, IL20, MIR1225, CD33, APPL2, MFT2, MIR564, ATP1A3, MIR562, MIR215, AMOT, ABCA13, APOA1, CREBRF, APLP2, MIR211, MIR212, PPP1R1C, SIK1, MIR214, MIR217, BCR, DIRAS1, APCDD1, IL34, MIR218-2, MIR22, MIR25, CMTM2, CMTM4, ANXA1, OPN1SW, FBXO16, LINC00599, SLC7A13, PRUNE2, APOD, MIR198, PDE12, APOBEC3A, CRTC2, TXLNA, MIR199A1, ANO6, XAGE3, ZNF596, RNF168, MIR199A2, OXER1, CITED4, MIR19A, AQP8, SLFN5, MIR200B, APOB, APOA4, MIR206, ANCR, AMH, CAPNS1, CCL3L3, UHMK1, PLK5, CPT1C, MSI2, CMTM3, NAA30, LGMNP1, TNFSF12-TNFSF13, ALKBH2, H4-16, EIF2AK1, PIWIL4, EIF2AK4, ANTXR2, MRGPRX4, MRGPRX3, MIAT, BMPR1B, BATF2, CTHRC1, TRMT61A, TSGA13, PIFO, TMEM18, FBLN7, NEU4, VTI1A, ROMO1, CTCFL, GATA5, MIR301A, MIR30C1, UPRT, TMEM71, BDKRB1, BMP1, MIR30C2, TAAR1, GPR151, MIR30E, EGFLAM, AMELX, MIR320A, IL31RA, AKR1B1, MIR93, RBM45, TIGIT, CMYA5, MIR193A, SOX2-OT, LHFPL3, LINC01116, ASPG, ATF1, MIR140, ASPA, ART1, FOXD4L4, NUP43, ANKDD1A, H3P44, FOLH1B, BAAT, BACH1, ZFP57, ARNTL, ARHGAP1, RSPO2, TSPAN33, STING1, BAD, HSR, LINC-PINT, ATF3, ATF4, CEP85L, ATP1A1, ATP2A2, ATP5F1A, ALDH7A1, MIR128-1, MIRLET7G, MIRLET7E, MIR129-1, MIRLET7C, MIR129-2, MIR130A, ERVFRD-1, ATP5F1B, SOHLH1, LINC01446, BCAR4, C1QTNF8, TNFAIP8L3, C12orf75, ATP7A, MIR130B, SNAI3, ZAR1, CELIAC2, MIR15B, MCOLN2, IGFBP7-AS1, ZDHHC23, ARG1, MIR181A2, CACNA1G-AS1, RALGAPA1, EBF3, RICTOR, SEMA3D, SLC35F1, GPRC6A, ARF4, ARF1, BCAT2, KDM1B, HEPACAM, SKA1, BCL2A1, MIR184, MIR185, GK5, ANKS4B, TRIM59, NCR3, TUSC1, RHOC, SNHG15, HOXA-AS2, BAG1, TUSC7, STPG4, MIF-AS1, LINC00663, MIR7-3HG, EMC10, CXCL17, ADGRB3, NEK8, MIR150, LOC283731, RHOB, LINC01579, H19, BAK1, MRGPRX1, AQP7P3, VN1R17P, C1QTNF1, MIR505, ZNF436, CAD, TTYH3, MIR519D, CALCA, MIR517C, MIR500A, DNAJC5, ULBP1, ADCYAP1, MIR506, ADD3, HAS2-AS1, ERVK-8, TRIM45, ORAI2, PANK2, MIR455, NAA25, DHDDS, LEF1-AS1, ADAR, MIR524, HM13, SLC38A1, VOPP1, SOX7, CA2, DOHH, MXD3, EMC6, MED25, SPRY4, MIR432, VANGL1, MIR495, NUAK2, MAP1LC3B, DIAPH3, DEFB126, KAZALD1, MIR193B, MIR520A, NECTIN4, MIR520B, MIR518B, CACNA1F, BAALC, MIR125B2, NHEJ1, BRCC3, MMP28, MAPKAP1, TRIM48, CHAC1, LINC00273, CARD14, SLC25A23, CANX, ATG9A, ADA, CAPN1, AHNAK, SNHG20, GGCT, DUSP26, MIR542, HNRNPA1P10, WNK2, FRTS1, SNORD76, MIR559, FA2H, NORAD, CRNDE, ADAM8, SLTM, CARF, WIPF3, LINC02604, ZFHX4, CAMK2A, RIOX1, RASSF10, CENPU, RTL10, VTCN1, DYNC2H1, GALNT14, RNASEH2B, ADIPOR2, TCTN1, CAMK2B, CAMK2G, ULBP3, NOX5, BHLHE41, ZNHIT2, FERMT3, ELFN2, MIR373, NLRP12, SLFN11, PLXNA4, DUOXA1, MIR342, BTF3, MIR346, MIR369, AGRP, GFM1, DOCK7, CRISPLD2, RHPN2, NKD2, NKD1, ERVK-7, MIR375, ALG2, H2BC12, SNHG7, AJUBA, BTG1, NEK9, DST, SCGB3A1, BNIP3L, CYGB, MIR155HG, GPR166P, TIRAP, NLRP3, TRIM9, MIR302B, MIR302D, LINC00313, CMTM1, BMX, SLC46A1, MTFR2, CYTOR, MIR323A, FOXP2, IGSF8, NAPRT, AGXT, MARCHF9, SLC38A5, RSPO3, MIR379, PHF5A, ING5, MIR433, HSDL2, C9, ZDHHC18, RHBDD1, MAF1, USP48, PPP1R1B, KAT8, EVA1A, KBTBD7, B3GNT5, CCDC8, GRK3, KLF16, USP26, ITCH, MIR490, MIR491, RIOK1, TLCD3B, MIR363, H4C15, FOXD2-AS1, PHF6, PCGF1, MIR381, MIR422A, MIR423, CNDP1, CLEC18B, LNX1, C4BPA, KDM2B, GLIS2, ADGRE3, MIR429, MAP1LC3A, MAK16, MIR448, HOPX, MIR449A, PHYHIPL, MAP3K21, AKT1S1, BRMS1L, LINC00115, LAMP1, B3GAT1, GNB3, GPC1, GPD1, SALL2, GPM6B, CCR10, S100A8, S100A6, SORT1, GPR26, RTKN, GRK5, RRBP1, RRAS, MKNK2, RPS20, RPS15, RPS11, RPS6KA2, RPS6KA1, GPS2, RPS3, RPL17, RPL8, RPL5, RPA1, GPX3, GRIA4, SCNN1A, SCO1, SRL, SFRP2, SIM2, ST8SIA1, ST6GAL1, SIAH2, SHH, SH3GL3, GNRH1, ITSN1, SGTA, SCG5, SRSF3, SRSF1, SFRP1, GOT2, SETMAR, SEL1L, GOLGA4, SDCBP, CX3CL1, CXCL6, CCL22, CCL21, CCL20, CCL18, CCL13, GOT1, GRM1, GRM2, RGR, PTGDS, GZMM, PTPRC, PTPN14, PTPN6, PTPN3, PTPN1, CFH, HFE, PTHLH, HGFAC, NRG1, PTGFRN, TAS2R38, GZMB, PSMD12, MNX1, PSMD2, PSMC6, PSMB9, PSMB4, PSG2, PSD, PSAP, RELN, HLA-DQA1, PRPS1, PTPRF, PTPRZ2, REV3L, RARRES2, GRM3, DPF2, UPF1, REN, RELB, REG1A, RDX, RBM3, RBBP8, RBBP5, RBBP4, RASA1, RARRES1, GTF2H4, RARG, RARA, RAP1A, RANBP2, RAN, RAD51B, GSTM1, RAC2, RAB27B, RAB3A, PXN, PVT1, SIX3, GNAS, CLCN3, SLAMF1, FGF7, FGF9, TMSB4X, TMPO, TSPAN8, TLR2, TLE1, TK1, FGFR4, FHL1, THY1, THOP1, TGFB3, FOXD1, FOXC2, FLNB, TFDP1, TFAP2A, FLNC, TERF2, FLT3, TEAD4, TCP1, TCN2, FOLR1, TCF3, TCF4, TNFRSF1B, TNR, FGF5, TRPC6, TYRP1, TYROBP, TYK2, FBP1, TNFSF4, FCGR2A, TUB, FCGRT, TTC4, PHLDA2, TSC2, FDFT1, TRP-AGG2-6, FGF1, TRIO, TRH, FDXR, TRAF1, HSP90B1, TPT1, TPR, TPI1, TPD52L2, FECH, FEN1, FER, TBX2, TAT, TAP1, SLC18A1, SNAPC2, GHRHR, SMO, GJA3, GCLC, GCLM, SMARCA4, SMARCA2, SLN, SLC22A5, GLO1, SLC20A1, SLC12A4, SNRPN, SLC12A3, GLUD2, SLC7A4, SLC8A2, SLC6A8, SLC5A2, SLC4A1, SLC3A1, GML, SLC1A5, SLC1A3, SLC1A1, SNRPB, GGT7, FTH1, GABPB1, TACC1, FTL, GAST, SYK, ABCC8, STX1A, STK11, FYN, FZD2, STAT2, ST14, ST2, SST, GDF2, ITPRID2, SREBF2, GABRA1, GALR1, SPTA1, SPOCK1, GATA2, SPAG4, SP100, SOX5, SOX1, GCH1, HLA-DQB1, PROP1, PRODH, HLA-DRA, MUC4, MTRR, RNR2, IRF1, MT3, MT1E, MT1A, MSX1, MST1R, IRF5, MSR1, IRF7, MSH4, ISG20, ITGA2B, ITGA3, MPST, MPP1, MPO, MPG, MMP19, ITGA4, MMP13, MMP11, ITGA9, MMP7, ITGAE, MX2, EIF3E, MYB, NEK2, NME3, NME2, NME1, NINJ1, NGFR, IL1RN, NFKB2, NFIB, IL11, IL13RA1, NEUROD2, NELL2, IL15, MYBL2, IMPDH2, SEPTIN2, NDN, NCK1, INPP5B, NAB2, MYO1C, MYH2, MYD88, INSM1, INSR, MYBPH, ITGB1, MME, AFDN, LMNA, KIF5B, SMAD1, MXD1, KIF5C, TACSTD2, LTBR, LSS, LRP6, KLRC3, KNG1, LNPEP, LMO2, LIMK2, SMAD7, KIF11, LIFR, LGALS9, LGALS8, LGALS3BP, LAMA2, LAMA3, LAMA5, LCP2, LCN1, LASP1, STMN1, KCNMA1, MAGEA1, KMT2A, MAP3K1, MAP3K11, ITGB3, MIP, CXCL9, ITGB5, CD99, ITGB8, KITLG, MGAT5, MGAT1, ITK, MEOX2, ANOS1, MAGEA2, KCNA5, KCNH1, MCM6, MAZ, MAX, MATK, MAP2, MAP1B, KCNJ3, MAOA, MAN2A1, MAL, NOP2, NOS3, IGSF1, PLD2, POU1F1, PON2, POLR2F, HOXA13, SEPTIN4, HOXB@, HOXB1, PNOC, PLXNA2, PLP2, PLOD2, PLEC, PLCG1, HOXA1, HOXB4, HOXB5, PLA2G4A, HOXB6, PKD2, PITX1, PIP4K2A, PIK3R2, HOXB9, HOXC9, HOXC11, PIK3C3, POU2F1, HNRNPU, SERPINE2, PRKCE, PRLR, PRL, EIF2AK2, MAP2K3, HLA-E, MAPK11, HLA-F, HMGB2, HMGB3, PRKCZ, HMOX2, PRKCG, PRKCD, PPIB, NR4A1, FOXA1, HNF4A, HNRNPA1, HNRNPC, SRGN, PRELP, PPT1, PPP2R5E, HNRNPL, PPP1CA, PPID, SERPINI1, SERPINB6, NPY, NR4A2, PAM, IARS1, PAFAH1B1, PCSK6, P2RX7, OXTR, OPRM1, OPRL1, OPCML, OLR1, OCRL, OCA2, IFN1@, REG3A, NUCB2, IFNA17, IGFALS, ROR2, IGFBP6, NPTX2, NPPA, NPAS2, PNP, NOVA1, CCN3, IGHA1, CNTN3, NDST1, PI3, PRMT2, SLC25A3, HOXD9, HOXD10, PGAM1, PFN1, PFKFB4, HPCAL1, PFKFB2, SERPINF1, PDK4, PDK3, HRG, HSPA8, PAX3, PDE4D, PDE4A, HSPA9, PCYT1A, CDK18, HSP90AB1, PCDH8, PCBP2, PBX3, PDCL, PAX7, HSPG2, UBE2I, UBE2N, UGDH, HDAC5, MAP3K2, CTNND1, TCFL5, OGA, CCT8, TNFSF13B, CD226, CTCF, CTSG, CELF2, CTSS, CUX1, IGF2BP3, RAD51AP1, RASL10A, CYB561, CYBB, TXNIP, CYC1, MXD4, CYLD, SORBS1, CCT2, CCT7, CYP1B1, DPYSL4, ARFGEF1, CHL1, TRAF3IP2, CTNNA1, CTAA1, DEPP1, UBE2C, CSNK1E, ADRM1, CSNK2A1, KDELR2, TLK2, CSNK2A2, CST3, SLC38A3, COPS6, RAB40B, PAPOLA, ZMYND11, BRD8, MMP24, PPARGC1A, MRPS30, SMR3B, CTBP1, CYP46A1, CTH, LAMC1, TUBGCP2, GJB6, SEPTIN9, ARFGEF2, PROCR, ANP32B, TRIM28, RAMP3, ABCC4, SPRY2, SPRY1, SPRY3, MSLN, DBH, MPZL2, CALCRL, TSHZ1, RNF41, ATP6AP2, DBN1, SEMA3A, PDIA6, ARL4C, PPIF, ACTR3, PTPRU, DNM1L, DBT, ABCC5, PARP3, CHAF1A, FRAT1, PDCD6, TFG, DAG1, RNASEH2A, CYP4B1, CYP2A7, HYOU1, KAT5, CYP2B6, CYP2E1, SEMA6B, CREB3, CAP1, HOXB13, EIF3M, ZBTB18, FST, GPNMB, TUBB4A, HAX1, LRRN2, MCRS1, C1D, RBM14, TUBGCP3, CYP27A1, PIAS3, RACK1, MYL9, DAB1, DLC1, TRIOBP, CD160, KIF3A, ATP6V0A2, CADM1, RAB38, SMPX, CCR1, PPP1R15A, LY96, DAPK2, CCR6, DDX58, LTB4R, LPAR3, WBP2, MAPK8IP2, KIF4A, SEC14L2, SRRM2, TNFRSF13B, SEC61G, COL4A1, TRAM1, COL4A3, COL16A1, ANGPTL2, HARS2, TARDBP, RYBP, BCL2L13, RASGRP3, COX5B, CLK2, NOX1, PABPC1, HBP1, RANBP6, SNORD48, INTS6, GNL3, HSPB8, DGCR5, NOC2L, PHF19, ZBTB20, RAI14, HECTD1, DNM3, CHD5, TPP1, SNED1, ULK3, ADGRA2, RWDD3, SYF2, MYRIP, CLTC, MPC2, PRKD2, COL17A1, COX7A2, ZWINT, CBX3, CRH, TPX2, CCT5, SIRT2, ATF6, CD93, CRKL, CRMP1, ZHX2, CILK1, CHSY1, CRYZ, PDAP1, DAAM1, PARK7, RNF139, CS, POLG2, FZD10, CSE1L, CSF1, PTENP1, RASSF1, TREH, PSIP1, CSHL1, KDM2A, CNOT1, SIRT5, SULF1, CP, TNS2, PUM2, PPP1R13B, PSD3, HAUS5, DOCK9, SYNE1, SYNM, ATMIN, CAMTA1, PLCB1, JMJD6, CPT1A, ATG4B, CPB2, LARP4B, DIP2A, CLDN4, SSPO, MAST2, CPS1, ARHGAP26, SWAP70, SMG1, WDTC1, PDCD6IP, DCK, UGP2, PTBP3, ITGA10, PARG, CDC42BPA, FOXN1, CUL1, CUL3, ELAVL1, NR0B2, SPARCL1, MAD1L1, H4C14, H4C13, H4C5, H4C2, H4C8, H4C3, H4C11, H4C12, H4C6, H4C4, H4C1, ELK4, ELN, ENDOG, ENO1, ENO2, ENPEP, DGKZ, API5, SERPINB1, EFNB2, FADD, RIPK2, CD164, ADAM23, EEF2, TNFSF12, TNFSF14, HRK, EFNA2, RNMT, ADAM19, EFNB1, VAMP8, CDC14B, EIF3A, IRS2, TNKS, EIF4G2, DCHS1, STC2, PLPP3, PLPP1, CASK, KHSRP, DENR, DEGS1, FZD4, CDC7, H4C9, VIPR1, ETV2, ETV4, WNT10B, WNT7B, WNT6, EXTL3, WNT2, F2, F2RL1, NAT2, VRK1, F9, VGF, YES1, VEGFB, FABP4, FABP5, VCL, FANCA, KDM6A, UTRN, FAH, USF1, UROS, USP4, UNG, XPC, YWHAG, TKTL1, ERG, SMC1A, EP300, ESS2, BAS, EPHA7, DPF1, AKAP1, EPHA8, ERCC2, CCDC6, KAT6A, EREG, ESD, YWHAZ, DEK, USP7, ETFA, BTG2, LAPTM5, PRDM2, ZYX, ZNF217, ZBTB16, ZNF131, ZNF22, CNBP, DLK1, EEF1B2P2, SUCLG1, EIF4E2, KLK4, NCOR2, DHPS, TP53I3, POLR1C, DIAPH1, TMEM59, DIO1, ADAMTS1, ADAMTS4, CABP1, DIO2, PICK1, MICAL2, EIF2AK3, MAP4K4, DLG3, QKI, NCR1, NCR2, DLX2, SARDH, FADS2, DYNC1I1, RECQL4, SLC22A8, DFFB, EIF5B, TGM5, ARHGEF11, HNRNPDL, NR1D2, ACE, USP3, KIF14, ARNT2, UBAP2L, SNAP91, DDB2, CEP350, GAB2, TRIM14, SPATA2, PHF14, RB1CC1, MTSS1, DLGAP5, EIF4A3, PCLAF, DDX6, DMXL1, DOCK4, SEMA3E, ULK2, ST18, ESPL1, ADIPOQ, DPP4, GALR2, E2F6, CCRL2, PKD2L1, CH25H, DVL2, TRPA1, DVL3, PLOD3, USP13, BTRC, KYNU, E2F2, VNN2, SYNJ2, SPAG9, IER3, SYNJ1, PER3, ECE1, ASAP2, ECHS1, ALKBH1, CCN4, GGH, EDN3, NRP2, CDKL1, UBA3, PRC1, NREP, DGKI, SOCS6, GPR55, GPR37L1, PIWIL1, STK17A, MAPKAPK2, SLC26A3, NOG, IL32, DLGAP1, HACD1, RCAN1, EXO1, SLC7A7, CBFA2T2, AIFM1, PDLIM1, DUSP4, NMI, FCGR2C, USP8, USP10, SART1, PKMYT1, DIRAS3, SYT7, VSNL1
    • Glioblastoma Orphanet
      Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification). Epidemiology Glioblastomas represent the most frequent brain tumors in adults, with an annual incidence of around 1/33,330. Prevalence is estimated at 1/100,000. Clinical description They may occur at any age, but 70% of cases are seen in patients between 45 and 70 years of age. The tumors are usually located in the brain hemispheres, but can be found anywhere in the central nervous system. The disease often progresses rapidly (over 2 to 3 months), except when the glioblastoma develops within a pre-existing low grade astrocytoma (secondary glioblastoma).
    • Glioblastoma Gard
      Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor.
  • Trigeminal Neuralgia Wikipedia
    Uncontrolled trials have suggested that clonazepam and lidocaine may be effective. [27] Antidepressant medications, such as amitriptyline have shown good efficacy in treating trigeminal neuralgia, especially if combined with an anti-convulsant drug such as pregabalin. [28] There is some evidence that duloxetine can also be used in some cases of neuropathic pain, especially in patients with major depressive disorder [29] as it is an antidepressant. ... "Arachnoid cyst of the cerebellopontine angle manifesting as contralateral trigeminal neuralgia: case report". Neurosurgery . 28 (6): 886–7. doi : 10.1097/00006123-199106000-00018 .
    MAPK3, MAPK1, CALCA, FOS, GFAP, GRIN1, IL1B, TNF, PRKCG, MAPK8, MAPK9, AIF1, CDK5R1, CDK5, SUFU, NF2, PRNP, SMARCB1, ERBB2, PDGFB, BRCA1, EGFR, ESR1, MS, CRLF1, GADL1, MVD, AZIN2, BMP2, MIR148A, MIR195, MIR324, MIR375, MALAT1, TP53, TP53BP1, TYR, AIMP2, TNFSF10, TIMP3, SNORD116@, CTAG1A, GRAP2, TRPM3, CASP8AP2, CAMKMT, FRTS1, TRPV4, TENM3, FEV, PPP1R2C, VGLL1, GPN3, TAZ, ANTXR2, RSS, CD274, PRIMA1, POLDIP2, RNF19A, PANX1, PPARGC1A, AHSA1, TG, ACLY, STAT3, CALM3, CTNNB1, CTAG1B, MAPK14, CRK, CPE, CHRM3, KRIT1, CALR, CALM2, SMS, CALM1, CAD, TSPO, BDNF, AR, ALB, JAG1, AFP, CYP3A4, DDX3X, DHCR24, FGF2, SLC6A4, PIM1, PARP1, SERPINE1, P2RX7, P2RX3, ORM2, NME1, NGFR, MYC, MUC1, MMP9, LBP, KRT14, JAK2, IL6, HLA-B, CD24
    • Trigeminal Neuralgia Gard
      Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.
    • Trigeminal Neuralgia Mayo_clinic
      Overview Trigeminal neuralgia is a condition that causes painful sensations similar to an electric shock on one side of the face. This chronic pain condition affects the trigeminal nerve, which carries sensation from your face to your brain. If you have trigeminal neuralgia, even mild stimulation of your face — such as from brushing your teeth or putting on makeup — may trigger a jolt of excruciating pain. You may initially experience short, mild attacks. But trigeminal neuralgia can progress and cause longer, more-frequent bouts of searing pain. Trigeminal neuralgia affects women more often than men, and it's more likely to occur in people who are older than 50.
    • Trigeminal Neuralgia Orphanet
      A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.
    • Trigeminal Neuralgia Omim
      Harris (1936) observed 9 cases in 3 generations. Allan (1938) described the condition in a 32-year-old man, his maternal uncle and his maternal grandmother. Argenta (1959) noted the disorder in 3 sibs, 2 of whom were twins. Auld and Buermann (1965) observed a family with 6 out of 7 sibs affected; no comment on parental consanguinity was made. I studied a family (K.L., 945011) in which 5 persons in 4 sibships and 3 generations were affected. There were 2 instances of apparent lack of penetrance ('skipped generations'). Herzberg (1980) reported 4 cases in 3 generations. Kirkpatrick (1989) described classic trigeminal neuralgia in 3 sisters who had a paternal aunt who may have also been affected.
  • Molar Incisor Hypomineralisation Wikipedia
    It was found to be effective in guiding the clinical management of children by predicting treatment undertaken for affected permanent first molars. [28] Prevention [ edit ] Prevention is of prior importance at an early developmental age as the defective tooth is more likely to have caries and post-eruptive breakdown due to its increased porosity. [3] Appropriate dietary advice and toothpaste with a fluoride level of at least 1,000 ppm F should be recommended. [29] For treating spontaneous hypersensitivity professional applications of fluoride varnish (e.g. ... International Journal of Paediatric Dentistry . 28 (2): 170–179. doi : 10.1111/ipd.12323 . ... International Journal of Paediatric Dentistry . 15 (1): 20–28. doi : 10.1111/j.1365-263X.2005.00599.x . ... "Microshear bond strength of resin composite to teeth affected by molar hypomineralization using 2 adhesive systems". Pediatric Dentistry . 28 (3): 233–241. ISSN 0164-1263 . PMID 16805355 . ^ Fayle, S. ... "Treatment planning for the loss of first permanent molars". Dental Update . 28 (6): 304–308. doi : 10.12968/denu.2001.28.6.304 .
    BMP2, IL4, TGFBR1, TUFT1, ENAM, TFIP11, SCUBE1
  • Acid Erosion Wikipedia
    Consult a medical doctor immediately if you notice or are aware of any signs and symptoms of gastroesophageal reflux disease (GERD), such as acid reflux and heartburn, [28] or if you suffer from an eating disorder or chronic alcoholism. ... Obesity is said to be an important risk factor in the development and deterioration of GERD. [28] 5. Find out if the patient has any underlying medical conditions or did consider a change of medications that induce hyposalivation and vomiting.
  • Poor Ovarian Reserve Wikipedia
    Genetic factors, such as fragile x syndrome. Approximately 20–28% of women with an FMR1 premutation (55–200 CGG repeats) experience fragile x primary ovarian insufficiency (POI) and another 23% experience early menopause (i.e., menopause before the age of forty five). [9] Autoimmune disorders . ... In the UK the use of donor oocytes after natural menopause is controversial. [28] A 1995 study reported that women age fifty or higher experience similar pregnancy rates after oocyte donation as younger women.
    AMH, FMR1, BRD2, TP53INP2, OPRD1, SLCO2A1, ESR1, FSHR, CCN2, GDF9, LGR6, FSTL3, TP53, SOCS2, ARTN, MFN2, RBM12, GREM1, MIR106A, CCL2, CXXC5, EIF4ENIF1, PNPLA2, POF1B, FOXP3, ABO, PTGS2, FES, AR, BRCA1, CRP, DIAPH2, F9, FDPS, FOXC1, SERPINF1, NR5A1, IGF1, IGF2, IGF2R, LHCGR, AGRP, MIR22
  • Thrombotic Thrombocytopenic Purpura Wikipedia
    In addition to TMA, one or more of the following symptoms may be present in each of these diseases: neurological symptoms (e.g. confusion, [24] [25] cerebral convulsions [25] seizures, [26] ); kidney impairment [27] (e.g. elevated creatinine , [28] decreased estimated glomerular filtration rate [eGFR], [28] abnormal urinalysis [29] ); and gastrointestinal (GI) symptoms (e.g. diarrhea [24] [30] nausea/vomiting, [26] abdominal pain, [26] gastroenteritis. [24] [27] Unlike HUS and aHUS, TTP is known to be caused by an acquired defect in the ADAMTS13 protein, so a lab test showing ≤5% of normal ADAMTS13 levels is indicative of TTP. [31] ADAMTS13 levels above 5%, coupled with a positive test for shiga-toxin/enterohemorrhagic E. coli (EHEC), are more likely indicative of HUS, [32] whereas absence of shiga-toxin/EHEC can confirm a diagnosis of aHUS. [31] Treatment [ edit ] Due to the high mortality of untreated TTP, a presumptive diagnosis of TTP is made even when only microangiopathic hemolytic anemia and thrombocytopenia are seen, and therapy is started.
    ADAMTS13, TFPI, F3, THBD, CFH, VWF, HLA-DRB1, PLG, SH3BP4, FLT4, ZFP36, HLA-DQB1, RBM45, CASP1, ABO, CRISP2, THBS1, DGKE, TNFSF10, CFLAR, PKD2L1, MAPKAPK2, CFHR3, TGFB1, WAS, ABCA1, PLA2G15, CCL2, MIR133B, PRSS55, RMDN2, KCNH8, TNFRSF13C, IL33, ACCS, SPZ1, CD248, ACSS2, ADAMTSL4, KRT20, TLR9, CLEC1B, PTPN22, STAT3, SERPINF2, S100B, MS4A1, EPHB1, ELAVL1, SLC25A10, CSF3, CRP, CD27, CD19, GHRH, CASP8, CASP3, CACNA1S, C3, APOH, APOA1, F2, BRF1, PTX3, CD46, PTGS2, PHEX, SERPINF1, SERPINE1, NRAS, COX2, JAK2, CFHR1, IL1B, IFNG, IFNB1, HP, HLA-DRB4, HLA-DRB3, MTCO2P12
    • Thrombotic Thrombocytopenic Purpura, Congenital Omim
      A number sign (#) is used with this entry because familial thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene (604134), which encodes the von Willebrand factor (VWF; 613160)-cleaving protease (VWFCP). See 235400 for a discussion of the hemolytic-uremic syndrome (HUS), which has signs and symptoms similar to those in thrombotic thrombocytopenic purpura. Description The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.
    • Thrombotic Thrombocytopenic Purpura Orphanet
      An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form. Clinical description iTTP generally occurs in adulthood, whereas cTTP usually in the neonatal period, during childhood or in the setting of pregnancy. Onset is usually acute but early symptoms may include fatigue, purpura or ecchymoses, abdominal pain, arthralgia and myalgia, resembling a flu-like episode. Disseminated microvascular thrombosis leads to consumptive peripheral thrombocytopenia, MAHA and widespread organ injury associated with cerebral (headache, confusion, altered consciousness, coma, seizures, hemiparesis and visual disturbances), cardiac (arrhythmia, infarction, congestive heart failure and cardiac arrest) and gastrointestinal (nausea, vomiting, abdominal pain and diarrhea) manifestations. Purpura and petechiae are the most common bleeding manifestations. Renal involvement is usually mild.
  • Psittacine Beak And Feather Disease Wikipedia
    In wild bird populations, transmission of infection most likely occurs within nest hollows by oral or intracloacal ingestion of the virus possibly sourced from feather dust, crop secretions, or faeces. [27] [10] Although there has been debate in the literature concerning the role of vertical transmission of avian circovirus, BFDV is suspected to be transmitted vertically because viral DNA can be found in embryos from infected hens. [28] However, this could simply be the result of non-replicative transfer of viral DNA into the yolk of embryonated eggs. ... Archived from the original (PDF) on August 28, 2020. Further reading [ edit ] Pass, D.
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