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A concise review based on current knowledge". Vet Q . 28 (2): 66–73. doi : 10.1080/01652176.2006.9695210 .

MT3, PARP1, ALDOC, GJB6, CD44, CX3CR1, GJA1, IL16, MIF, PARG, CX3CL1, S100B, CHP1, H3P19, NRSN1, TPPP, CD9, TMED2, MIR146A, MIR155, ACTB, KMO, PENK, OCA2, IRF7, RAB5A

Central Retinal Artery Occlusion Wikipedia

"Different ophthalmic artery origins: Embryology and clinical significance". Clinical Anatomy . 28 (5): 576–83. doi : 10.1002/ca.22470 .

F5, SERPINC1, COX8A, LPA, MTHFR, PLAT, C20orf181

Ulnar Neuropathy Wikipedia

Journal of Manipulative and Physiological Therapeutics . 28 (5): 345. doi : 10.1016/j.jmpt.2005.04.005 .

ADM, REG1A

Cervical Fracture Wikipedia

Adult and Pediatric Spine Trauma, An Issue of Neurosurgery Clinics of North America . 28 . Elsevier Health Sciences. ISBN 9780323482844 . ^ Shantanu S Kulkarni, DO and Robert H Meier III, "Spinal Orthotics", Medscape Reference . ^ Aciduman, Ahmet; Belen, Deniz (December 2018).

Macrocephaly-Capillary Malformation Wikipedia

"Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis". J Child Neurol . 28 (1): 115–9. doi : 10.1177/0883073812439346 .

PIK3CA, PIK3R2, AKT3, AKT1, MMUT, MTOR, NF1, PIK3CB, PIK3CD, PIK3CG, CCR5, PTPN11, RASA1, CDC45, SYNGAP1, BRD4, CD274, MCM10

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Omim

A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (171834) on chromosome 3q26. Description Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. Clinical Features Moore et al. (1997) described 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature.
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Orphanet

A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies. Epidemiology Over 200 patients have been reported without sex predominance. Clinical description Symptoms are usually recognizable at birth. Their severity varies widely among patients. Megalencephaly is a major clinical feature (MEG: occipitofrontal circumference [OFC] greater than or equal to 3 SD above the mean), which sometimes progresses to hydrocephaly, malformations of cortical development with polymicrogyria and Chiari malformation. Cutaneous capillary anomalies are often scattered over the limbs, palms, soles and trunk, are frequently pink/red and are aggravated by crying and emotions.
Megalencephaly-Capillary Malformation Syndrome Medlineplus

Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In individuals with MCAP, megalencephaly leads to an unusually large head size (macrocephaly ), which is typically evident at birth. After birth, the brain and head continue to grow at a fast rate for the first few years of life; then, the growth slows to a normal rate, although the head remains larger than average. Additional brain abnormalities are common in people with MCAP; these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as those known as Chiari malformation and polymicrogyria.

Aarskog-Scott Syndrome Omim

Escobar and Weaver (1978) reported a patient who had features more suggestive of the Noonan syndrome than of the Aarskog syndrome. The patient, aged 28 years, also had severe macrocytic anemia refractory to iron therapy, hepatomegaly, hemochromatosis, portal cirrhosis, and interstitial pulmonary disease.

FGD1, SOS1, RIT1, LZTR1, RAF1, ATR, CENPJ, CEP63, PTPN11, KRAS, MC2R, POMC, TSR2, MRAP, NNT, STAR, TXNRD2, RASGRF1, SLC2A4RG, ARHGEF2, PLEK, MCM4, GLI3, CYP11A1, FGD5, SGPL1, SMOC1, FGD3, TXNRD3, ACTB, AAAS, TRGC1, TRG, PGK1P1, PGAM2, MC1R, GH1, DECR1, CDKN1C, CDC42, BCL2, TARP

Aarskog–scott Syndrome Wikipedia

Aarskog–Scott syndrome / Aarskog Syndrome Other names Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome [1] Specialty Medical genetics Symptoms Broad hands and feet, wide set eyes, low set ears, drooping lower lip [1] Causes Genetic ( X-linked recessive ) [1] Deaths 2018, two deaths one patient aged 66 years, another aged 62 also diagnosed with Non-Hodgkin lymphoma 2019 one death aged 54. All males from the same family. Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature , facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome. [3] [4] Contents 1 Signs and symptoms 2 Genetics 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Prognosis 7 History 8 References 9 External links Signs and symptoms [ edit ] People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes ( hypertelorism ), a small nose, a long area between the nose and mouth ( philtrum ), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers ( brachydactyly ), curved pinky fingers (fifth finger clinodactyly ), webbing of the skin between some fingers (cutaneous syndactyly ), and a single crease across the palm. Other abnormalities in people with Aarskog–Scott syndrome include heart defects and a split in the upper lip ( cleft lip ) with or without an opening in the roof of the mouth ( cleft palate ). [3] Most males with Aarskog–Scott syndrome have a shawl scrotum , in which the scrotum surrounds the penis instead of hanging below.
Aarskog-Scott Syndrome Orphanet

A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. Epidemiology AAS prevalence is not known, but less than 100 cases have been reported in the literature since the first description in 1970. However, prevalence estimates are thought to be around 1/25,000. About 40 molecularly proven cases are published worldwide. Clinical description AAS predominantly concerns males. Facial features include widow's peak and hypertelorism, both observed in female carriers, and downslanting palpebral fissures, broad nasal bridge, anteversed nostrils, low set and protuberant ears, maxillary hypoplasia and transverse crease below the lower lip. AAS patients have short and broad hands and feet, interdigital webbing, clinodactyly, and hyperextension of proximal interphalangeal joints and flexion at distal interphalangeal joints causing swan neck deformity of fingers.
Aarskog Syndrome Gard

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.
Aarskog Syndrome, Autosomal Dominant Omim

Description Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983). Clinical Features Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. Stretchable skin was present in these patients. Inheritance Grier et al. (1983) tabulated the findings in 82 previously reported cases of Aarskog syndrome and noted that X-linked recessive inheritance was repeatedly suggested. However, their family had father-to-son transmission, and a family reported by Welch (1974) had affected males in 3 consecutive generations.

Epidermolysis Bullosa, Junctional, Herlitz Type Omim

Among 14 European families with Herlitz junctional EB, Pulkkinen et al. (1997) found that LAMB3 mutations accounted for 22 (79%) of 28 junctional EB alleles, and that 14 (64%) of 22 LAMB3 alleles harbored the R635X mutation.

LAMB3, LAMC2, LAMA3, ITGB4, ITGA6, MIR4260

Junctional Epidermolysis Bullosa, Generalized Severe Orphanet

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. Epidemiology Reported incidence ranges are 1/2,500,000 and 1/1,470,000 live births in the United States and Italy, respectively, and 1/250,000 live births in the Netherlands. According to data from U.S. and Italian EB registries, about 20% of patients with JEB have the more severe Herlitz type. Clinical description The condition is present at birth. Exuberant granulation tissue is a characteristic manifestation, which usually arises within the first several months to one to two years of life, and may involve the skin (around nail folds, in a mask-like distribution on the face, and at sites of friction, such as shoulders and buttocks), and the upper airways. Involvement of mucous membranes may affect the entire gastrointestinal (GI) tract, genitourinary tract, and respiratory tract to the bronchioles.
Junctional Epidermolysis Bullosa Medlineplus

Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body.

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Omim

Yilmaz et al. (2018) performed whole-exome sequencing in 28 patients with CACP syndrome and identified 11 mutations in the PRG4 gene, including 9 novel mutations, which were confirmed by Sanger sequencing.

PRG4, TPR, UROD, PSTPIP1, STAMBP

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Orphanet

Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Gard

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities that begin at birth or during early childhood. The name comes from the main symptoms, including permanent bending of the fingers ( camptodactyly ), joint disease ( arthropathy ), and changes in the hip joint resulting in shortened legs and a possible limp ( coxa vara ). Some people with CACP also have too many cells between their joints (synovial hyperplasia) and too much fluid around the heart ( pericardial effusion ) or lungs ( pleural effusion ). Camptodactyly-arthyropathy-coxa vara-pericarditis syndrome is caused by a mutation in the PRG4 gene. This gene is responsible for making a protein that lubricates the joints.The condition is inherited in an autosomal recessive manner.
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Wikipedia

Autosomal recessive genetic condition Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Other names Pericarditis-arthropathy-camptodactyly syndrome Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic condition due to a mutation in the gene proteoglycan 4 ( PRG4 ) – a mucin -type glycoprotein that acts as a lubricant for the cartilage surfaces. This gene is also known as lubricin. Contents 1 Presentation 2 Genetics 3 Diagnosis 3.1 Laboratory 3.2 Radiology 4 Management 5 References 6 External links Presentation [ edit ] This condition was first described in 1986. [1] and is a syndrome of camptodactyly , arthropathy , coxa vara and pericarditis . [2] It may also include congenital cataracts . [3] The cause of this syndrome was discovered in 1999. [4] Children with this syndrome often present with a joint effusion that is cool and resistant to anti-inflammatory therapy. The arthropathy principally involves large joints such as elbows, hips, knees, and ankles. Pericarditis may be a presenting feature or may occur later in the course of the disease. Coxa vara occurs in 50–90% of cases and noninflammatory pericarditis in 30%.

Wagner Vitreoretinopathy Omim

One reason for hesitation in complete acceptance of identity of the Wagner and Stickler syndromes is the fact that retinal detachment was not noted in any of the 28 members of the original Swiss family studied by Wagner (1938) and later by Boehringer et al. (1960) and Ricci (1961).

VCAN, COL2A1, PAX6, WT1, VCAN-AS1, COL11A1, HAPLN1

Vcan-Related Vitreoretinopathy Gene_reviews

Summary Clinical characteristics. VCAN -related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by "optically empty vitreous" on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years. Diagnosis/testing. The diagnosis of VCAN -related vitreoretinopathy is established in a proband with characteristic ocular findings and a family history consistent with autosomal dominant inheritance. Identification of a heterozygous VCAN pathogenic variant establishes the diagnosis if clinical features are inconclusive.
Wagner Disease Orphanet

Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. Epidemiology About 100 patients with Wagner syndrome from only a few pedigrees have been described in the literature. Clinical description Affected patients typically exhibit low or moderate myopia, with only a few suffering from severe myopia. The disease has a juvenile onset with progressive nyctalopia and visual field constriction. Presenile cataract is a frequent cause of reduced central visual acuity.
Wagner Syndrome Medlineplus

Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina ) becomes thin and may separate from the back of the eye (retinal detachment ). The blood vessels within the retina (known as the choroid) may also be abnormal. The retina and the choroid progressively break down (degenerate). Some people with Wagner syndrome have blurred vision because of ectopic fovea, an abnormality in which the part of the retina responsible for sharp central vision is out of place.
Wagner's Disease Wikipedia

Wagner's disease Other names Wagner’s hyaloid retinal degeneration, Wagner’s vitreoretinal degeneration, Wagner syndrome Wagner's disease is inherited in an autosomal dominant manner Wagner's disease is a familial disease of the eye that can cause reduced visual acuity. [1] Wagner's disease was originally described in 1938. This disorder was frequently confused with Stickler syndrome , but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant . Contents 1 Genetics 2 Diagnosis 3 Treatment 4 History 5 References 6 External links Genetics [ edit ] Wagner's syndrome has for a long time been considered a synonym for Stickler's syndrome. However, since the gene that is responsible for Wagner disease (and Erosive Vitreoretinopathie) is known (2005), the confusion has ended. For Wagner disease is the Versican gene (VCAN) located at 5q14.3 is responsible.
Wagner Syndrome Gard

Wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. It is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous ), in which it becomes thin and watery and appears empty. The first signs and symptoms usually appear in childhood, but onset may be as early as age 2. Signs and symptoms may include: thinning of the light-sensitive tissue that lines the back of the eye ( retinal detachment ), abnormalities of the blood vessels within the retina (known as the choroid ), and degeneration of the retina and choroid. Wagner syndrome is caused by mutations in the VCAN gene and is inherited in an autosomal dominant manner.

Liver Tumor Wikipedia

"Serum markers of intrahepatic cholangiocarcinoma" . Disease Markers . 34 (4): 219–28. doi : 10.1155/2013/196412 . PMC 3809974 .

TP53, CDKN2A, KRAS, MYC, PPARA, TERT, GNMT, IGF2, APC, TGFA, NR1H4, FHIT, ASNS, TNFSF10, STAT3, AHR, NR1I3, TNF, HGF, CTNNB1, GPC3, GJB1, HRAS, NFE2L2, IL2, SERPINE1, ESR1, CSF2, CYP2E1, CCND1, ATP7B, CDKN1B, SLC2A1, PPARG, IFNA1, BRAF, SCD, IFT88, MAPK14, MALAT1, HMOX1, NEAT1, HULC, SMAD4, JUN, FST, MIR29A, HCFC1, CSF3, EFNB2, KRT8, RAF1, DICER1, DCD, ANXA2, FOSB, EGLN3, DDX54, TRIO, CCDC134, IL12A, CDKN1A, CCNH, PDRG1, HIF1A, UGDH, HNF4A, COL18A1, IL12B, TOP2A, TOP1, RTP3, GRIK2, HSDL2, HIGD2A, SLC38A9, LINGO2, TTLL9, PRICKLE2, DACT2, ADAMTS17, FLCN, MACROD2, STAC3, NDRG1, NUDT7, BAP1, GADL1, ZSCAN22, CGREF1, CRABP1, YIF1A, HERC3, GSTM1, MACIR, GPX3, GPX2, XPA, CHN2, XPC, CPT1B, CIDEA, CCR4, WDR17, TMEM132D, BTBD11, SNHG11, TNK2, SPATA21, ABCB1, PTPRO, SRMS, PSMA4, PTER, SLC40A1, TCF4, ASH1L, MYO5B, TTC39A, PRKCE, ZDHHC2, SLC11A2, OAT, PLS1, EXOSC2, APCS, ANXA7, ANXA4, NOP16, NUDCD3, WSCD1, ITIH1, PTEN, SNX10, LARGE1, SIX3, ACOT1, HEBP2, ATF3, KRT18, CLSTN2, TOX3, ESM1, TRMT11, PHGDH, NCOR1, NAT2, LTF, DPP10, ABL1, HAMP, INSR, MET, CASP3, PTGS2, FOXM1, APRT, IL10, FAS, TFRC, SKP2, ABCC3, HNF1A, CDK1, PCNA, PTK2, G6PD, CAD, SMAD2, CCNE1, MCM7, RGN, MIR195, AKT2, DNMT1, DNMT3B, IL6ST, ABCA1, LPAR1, HPRT1, MIR93, MME, ABCB4, PPAT, CTSB, C3, ING3, PLAU, GJB2, ACOT12, SRF, DNMT3A, GC, MTHFD2, FOXP1, IQGAP2, CARM1, SRSF1, PFAS, SAV1, TGFBR2, ENG, MCM9, FTH1, POLG, UACA, CADM1, MECP2, TEK, HNRNPD, HNRNPA2B1, XDH, SLC66A3, VAV1, COX1, ND5, A2M, TXNIP, NFE2L1, PPP1R9A, EP300, SHC1, MIR96, ASIP, CDH1, CSK, GMPS, MIR106B, AKR1B1, ALDOC, CASP9, CAPN3, CASP8, MIR25, CTSL, MIR181C, MIR145, MIR18A, RELA, WT1, BRCA2, SMPD1, TRIM28, DIS3L2, TMEM67, VEGFA, PIK3CG, MSH6, PIK3CD, AFP, ALB, POU6F2, AKT1, PIK3CB, HBB, C11orf95, TGFB1, BCL2, MLH1, DNLZ, LDLR, BRCA1, MSH2, INPP5E, PALB2, PIK3CA, NAB2, IL6, IL1B, PROM1, PALLD, HSPG2, STAT6, RPGRIP1L, TRIP13, CC2D2A, CYP1A1, H19, EGF, EPO, REST, MIR122, APOB, IGF1, CYP3A4, MAPK1, EGFR, APOA1, TBC1D9, SLC12A9, FASN, CAT, FN1, LEP, YAP1, G6PC, SETD2, DLC1, CXCL8, CXADR, AR, CASR, SPHK1, ARR3, IL1A, CYP1A2, TRIM13, ABCC2, HPSE, NR1I2, CYP2B6, CD44, SPG7, SMUG1, CD274, CXCL12, CXADRP1, CRP, GABPA, FUT8, AGT, BSG, PRKAR1A, APOE, MFAP1, MEG3, CDX2, H3P10, SYCE1L, MCL1, EPHB2, IGF1R, SERPINA1, SLC5A5, MMP2, MAT2A, TTR, ODC1, PARP1, SIRT1, KLHL1, TAZ, MIR21, POLD1, ARNT, E2F1, MAT1A, GH1, CIB1, EGR1, IFNA13, NQO1, HSPA5, SYT1, SMAD3, NRAS, PIM3, NME1, SMYD3, THY1, TFR2, CYP19A1, TNFRSF1A, IRF1, GORASP1, KLRK1, CAV1, MMP9, MYCN, DNASE1, AQP9, ASS1, WNK1, PNPLA2, IGFBP1, CYP4F3, IL24, SLC10A1, PRKAA1, ABCG2, SNAI1, KLRC4-KLRK1, PRKAB1, HDGF, VDR, GLB1, ERBB2, HK2, ALOX5, GLUL, MAPK8, MTOR, PKM, PLAT, GGT1, MIR34A, PCK1, ACSL4, PCK2, EZH2, FGF2, PRKAA2, RENBP, COL11A2, CEBPB, CNBP, FGFR4, AGTR1, MAT2B, CCL4, ABCC1, FGF21, ADIPOQ, MPG, TMED7, CCL2, SOX2, CHPT1, SULF1, SFRP1, MDM2, NDRG2, IFNL4, PSMD10, TP53I11, PSMD9, H3P23, KL, AVP, PTPN11, GGTLC3, JAG1, TFPI, PRLR, MAP2K7, MAP2K1, MIA2, GGT2, MST1, POLDIP2, ADM, IL22, AHSG, LOC110806263, APOC3, BIN1, PERCC1, DKK3, RBP4, NRF1, PHLPP2, STK11, SST, FGF19, NTS, VPS53, ANGPT2, TRPM7, STAT2, TMED7-TICAM2, CD24, PAEP, DLEC1, PDCD4, MTHFR, SLC6A2, PTPA, SATB1, SAT1, PEX5, ALDH1A1, PML, MVK, SPP1, PLK1, PLG, HAVCR1, PLA2G1B, GGTLC4P, GRAP2, ADAM17, NEK2, AMPD1, ABCB6, DECR1, STMN1, FOXA2, PPARGC1A, VTN, LYVE1, CDKN3, PTK2B, HFE, ABCC4, MIR30E, HK1, CCN2, HLA-A, CTNND1, NRP1, F9, AHSA1, DNAJB1, GADD45G, HP, HPN, CD81, HPX, ARID2, CD59, CCT4, HSF1, HSPA9, CRYZ, MIR100, HSPB1, UCN, THBS1, DLK1, RNF19A, CEBPA, CXCR4, CRK, PRDM2, DCTN6, FOS, DYNLL1, FGL1, FXN, IRS2, CXCR6, MAP3K8, KLF6, GAPDH, BECN1, MIR198, AIMP2, GCG, MAL2, YWHAZ, MIR205, MIR143, GHR, CLTC, CLU, GLI2, AKR1A1, ACY3, MIR221, MIR130B, CYP2J2, MIA, MLRL, CYP27A1, SERPING1, AXIN1, P4HA2, MARCKSL1, ICAM1, TLR4, TLR3, KRT19, TIMM8A, LEPR, ST20, CHEK2, INS, GGTLC5P, TIAM1, LTB, BMI1, BLVRB, EPCAM, SUGP1, DDIT3, TICAM2, SOCS3, CEACAM1, MIR506, KDR, HJV, IDH1, IFNG, TTF1, DHDDS, IFI27, MIR449A, HSP90B1, CYP3A5, TPO, MIR451A, ZNRD2, MIR492, IL15, IL18, IFNL1, ANP32B, SGK3, KEAP1, TUBB3, GIT2, SRRM2, TSPAN15, GPNMB, PART1, MRPL28, TRIM29, ATG7, PRDX5, NDC80, VAV3, HDAC9, BCL2L13, KMT2B, TUBGCP3, BRD1, RAD54B, CUL7, SLCO1B1, GREB1, MYL12A, CCNDBP1, SEMA3C, OLFM1, GNLY, MTCH2, NCOA2, ARFRP1, SUZ12, MMRN1, MSLN, KCNQ1OT1, SDS, SLC27A5, TSHZ1, PTGR1, SGK2, DKK1, TLK2, RPIA, ACTR1A, RAB18, ZNF197, CKAP4, WWP1, LPAR6, ADAMTS13, ZHX2, FSTL1, RASSF1, ATF5, ARL4C, DDX20, LRPPRC, KLHL2, TREX1, KDM1A, RABEPK, ETHE1, MFN2, EBP, NFAT5, MAP3K2, NCS1, CITED2, NCKAP1, SIRT3, SIRT4, ZBTB24, IQSEC1, GJB6, LANCL1, FSTL3, EBNA1BP2, MVP, UTS2, EXOC7, PHLPP1, SCO2, JMJD6, SUB1, APOBEC2, PMPCA, SEPTIN6, PEG10, KDELR1, C1QL1, TP53AIP1, SAMHD1, MIR7-3HG, DDX53, GSX2, SENP5, FOLH1B, CTAG1A, TMEM9, MPV17L, IL4I1, IFNL2, IFNL3, HCCAT5, SLC13A5, ARMH1, PNKD, SLC6A19, GLDN, GSTK1, SNHG5, LIN28B, C17orf97, SH2D5, GPRACR, HOXB-AS3, MIRLET7I, MIR107, MIR144, KLB, SGO1, RMDN2, LRATD1, MAP3K21, MAK16, COL25A1, C19orf48, MASTL, RERG, NKD1, SLC25A21, UAP1L1, ISX, GGTLC1, MYL12B, DBA2, APOA5, TPPP2, H3C14, IQGAP3, ACMSD, SLCO6A1, SELENOM, ZNF542P, PDIK1L, SIK1, PLB1, GPBAR1, MIR148A, MIR149, MIR150, CCR2, MIR1228, MIR4262, LINC01672, OCLN, MICA, TMX2-CTNND1, ERVK-2, ERVK-12, ERVK-22, H3P12, LINC00554, ERVK-11, LINC00210, PGR-AS1, MIR6809, GATD3B, LOC102724197, LOC102724562, TP53COR1, ENPP7P13, MTCO2P12, ERVK-32, MAPK6-DT, H3P9, H3P28, AD11, KRT8P3, MIR193A, MAGED4, MIR210, MIR215, MIR224, MIR23B, MIR24-1, MIR27B, MIR30B, MIR34C, MIR17HG, MIR375, MIR378A, MIR424, MIR429, MIR433, MIR409, MIR494, MIR520E, MIR500A, MIR483, SNHG6, UCA1, OCM, SCARNA22, MIR592, MIR92B, SARNP, RHBDD1, SETD3, EGFL7, GOLM1, ATRAID, TRPV2, RASD1, TUBA8, ANLN, KRT20, UGT1A6, PAF1, FBLIM1, SARS2, PINX1, TUG1, LAMTOR1, SLC52A1, ENOX1, AKIRIN2, RMDN3, YY1AP1, ADI1, ZNF654, LARP6, DRAM1, LAPTM4B, SMPD3, MZB1, ING4, CCDC88A, RMDN1, HERC4, MYCBP, GNL3, SLC17A5, SND1, B9D1, BBC3, DKK2, GLS2, GPR162, RBMS3, HPGDS, SLCO3A1, TRIB2, RGCC, NXT1, UHRF1, HCFC2, TBX21, STOML2, NOX4, DELEC1, HDGFL3, TAS2R13, FOXP3, SYBU, KDM3A, ATRIP, BABAM2, PRSS22, VSIR, HIF3A, VKORC1, GGCT, FTO, MRPL24, LIN28A, VASH2, HDAC11, LPCAT1, NANOG, SCD5, WLS, PUS1, ULBP1, PNPLA3, COASY, MAGED4B, CDCA3, PARP9, CRISPLD2, RAB34, CTTNBP2, TKTL2, ERVK-6, GAS5, HDAC8, IGAN1, GSDMB, GABRQ, APOM, SULF2, DIABLO, PNO1, PSMG2, CTNNBIP1, ACKR3, AKR1B10, TIGAR, GOPC, SALL4, TP73-AS1, THAP11, AICDA, BIRC6, ARID1B, SYT13, GPR107, ANKRD36B, TRIB3, NLRC4, IL21, APOBEC3G, AKAP12, A1BG, BCAR1, GBAP1, FLT3LG, FLT4, FMR1, FOLR1, NR5A2, FUT1, FUT6, GALK1, GALNT1, GALT, GATA4, GATA6, GBA, GCK, GZMB, GFI1, GGT5, GLS, GNA12, CCR10, GPR42, GPX1, NR3C1, GSK3A, GSK3B, GSTA1, GSTT1, GSTZ1, FLT1, FOXO3, FOXO1, FOXC1, EIF4E, ELAVL3, ENSA, EPHA1, EPHB4, EPHB6, ERBB4, ERCC2, FBL, ESR2, EXT1, F2, F2R, F2RL1, FABP1, ACSL1, ACSL3, FAH, FBP1, FCAR, FCN2, FER, FGF4, FGF13, FGFR2, FGR, VEGFD, GUSB, H1-0, EFNA5, LGALS1, IRS1, ITGA7, ITGB1, ITGB3, JAK2, JUNB, JUND, KIT, KLRC1, KNG1, RPSA, LDHB, LECT2, LIF, H2AX, LIPE, LMNA, LPA, LRP6, LRP5, BCAM, LYZ, MARCKS, MXD1, SMAD1, SMAD6, SMAD7, MAFG, IREB2, PDX1, INSM1, CXCL10, HBE1, SERPIND1, HINT1, HMGCR, ONECUT1, PRMT1, HES1, HSPA4, HSPB2, HSPD1, HTN3, IBSP, ID1, IDE, IDH2, CFI, IFNA2, IFNA5, IFNB1, IGF2R, IGFBP3, IGFBP4, IK, IL1RN, IL6R, IL9, ILF3, EPHA2, EFNA1, MAGEA4, PRDM1, BIRC5, APLP2, APOBEC1, APP, AREG, ARF6, ASGR1, ASL, SERPINC1, ATM, ATP7A, BAX, BCL2A1, CXCR5, CCNA2, BMP4, BMP6, BNIP3, BRS3, BTC, TSPO, C2, CACNA1S, DDR1, CAST, RUNX2, SERPINA6, CBS, XIAP, BIRC3, APEX1, APOF, SERPINA3, AADAC, ABL2, ABO, ACACA, ACAT2, ACHE, ACO1, ACO2, ACTB, ADH1B, ADH5, ADH6, ADRA1B, ADRA1A, ADRA2B, AP1G1, AFM, ALDH3A1, ALDH1B1, ALK, AMCN, AMPD2, AMY1A, AMY1B, AMY1C, ANGPT1, CCK, CCNB1, EDNRA, CYP51A1, CSRP1, CTAG1B, CTSE, CTSH, CYP1B1, CYP2B7P, CYP2D6, CYP7A1, CYP11A1, CYP17A1, CYP21A1P, CYP24A1, CYP27B1, AKR1C1, CCNG1, DDT, DFFB, DHCR24, DLD, DNAH8, DPYD, HBEGF, DUSP1, DUSP6, E2F3, TYMP, EDA, S1PR1, CSE1L, CRH, CREB1, CR2, CD1D, CD14, SCARB1, CDC20, CDC25A, CDC25C, CDH13, CDH17, CDK4, CDK9, CDKN2B, CDKN2C, CDSN, CEACAM5, CEL, CENPE, CFL1, CHRM3, CLCN3, CLIC1, CCR1, CCR7, CNN1, CNTF, COMT, COX8A, CPB2, MAGEA1, MAL, MACROH2A1, UROD, TIMP2, TIMP3, TK1, TKT, TLR2, TP53BP1, TSPY1, TXNRD1, TYMS, TYRO3, UBE2B, UBE2I, SUMO1, USF1, SEMA3B, USF2, UVRAG, VIM, VIPR1, WNT1, WT2, XBP1, YY1, ZNF24, ZNF148, ZNF185, ZMYM2, BTG2, TIMP1, KLF10, THPO, THBS2, SPINT1, SRC, SREBF1, SREBF2, SRP9, SSTR4, ST14, STAT1, STAT5A, STAT5B, SULT1E1, ELOVL4, STK4, AURKA, SULT1A1, SULT2A1, SYP, TAGLN, SERPINA7, TBP, TBX3, ZEB1, TCOF1, PRDX2, TEAD1, NR2F2, TGFBI, PAX8, ST8SIA4, SPARC, LPAR2, APLN, CDC123, FUBP1, HSPB3, KALRN, TM4SF5, ANGPTL1, CLDN6, CLDN1, DIRAS3, USP6, MTA1, AIFM1, ARHGEF2, CP20, SLC33A1, DCLK1, LRRFIP1, NOLC1, MSC, PDLIM7, SLC9A3R1, MED23, HAND2, ATG5, ADAMTS1, EEF1E1, BAG3, HDAC3, CFLAR, TRIM24, TNFRSF10B, MAFK, TFPI2, STAM, ADAM12, RASSF7, HMGA2, SLC7A5, GATD3A, BAS, TKTL1, ARID1A, AXIN2, DYRK3, PARG, IKBKG, FCN3, LGR5, BHLHE40, PDLIM4, TP63, ABCB11, NCOA1, SOCS1, PDE5A, TNKS, RIPK1, TNFSF13, SPINK1, UAP1, MAN2A1, ENPP3, NTRK2, DDR2, NUP88, OGG1, TNFRSF11B, P2RX5, P2RY2, FURIN, PAK1, REG3A, PC, PDGFRA, ENPP1, PECAM1, PPM1A, SERPINF1, CFP, PFKFB4, PFN1, PGK1, PHB, PITX2, PKLR, PLA2G4A, PLEC, PLOD2, PLXNB1, PON1, NPAS1, NOTCH3, NOTCH2, NOS3, MAOB, MAZ, MBL2, MC4R, CD46, MAP3K5, RAB8A, MGAT3, MICB, CXCL9, MIP, MMP3, MMP14, MRC1, CITED1, MSI1, MT1F, MT1M, COX2, MTTP, MUC1, MUC2, MUC4, MUTYH, NASP, SEPTIN2, NM, PPIB, PPP2CA, SOD1, SIX1, S100A9, SAA1, SAA2, SARS1, SERPINB3, SERPINB4, CCL3, CCL5, SFRP2, SFRP4, SFRP5, SHBG, PMEL, SKIV2L, PPT1, SLC1A5, SLC2A3, SLC2A5, SLC4A1, SLC5A1, SLC5A2, SLC6A3, SLC6A4, SLC22A5, SMARCA1, SMARCB1, SMARCE1, SOAT1, RRAD, RPS6KB1, RPE65, ROS1, PRKACA, PRKD1, MAPK3, MAPK6, MAPK9, EIF2AK2, PRL, PROX1, HTRA1, PSAP, PSG5, PSMA6, PSMD7, PTBP1, PTCH1, PTH, PTPN1, PTPN3, PTS, PVT1, RAD51D, RARB, RASGRF1, RBMY1A1, RBP1, RDX, RNASEL, SOD2

Optic Disc Drusen Wikipedia

"Histologic findings after surgical excision of optic nerve head drusen". Retina (Philadelphia, Pa.) . 28 (1): 143–46. doi : 10.1097/IAE.0b013e31815e98d8 .

MFRP, EFEMP1, MTOR, RHO, PLXNA2, CCT

Plagiocephaly Wikipedia

"Plagiocephaly Severity Scale to Aid in Clinical Treatment Recommendations". Journal of Craniofacial Surgery . 28 (3): 717–722. doi : 10.1097/SCS.0000000000003520 .

FGFR3, TWIST1, TCF12, ZIC1, FGFR2, CCDC47, ERMARD, PIGV, MBTPS2, PGAP2, ADAR, KIDINS220, ZBTB20, CNTNAP2, SAMHD1, ADNP, MED13L, CHSY1, TREX1, ARID1B, PRUNE1, WDR35, TUBB3, MYMK, UNC80, PIGW, ARID2, PGAP3, PIGY, PIGO, COL25A1, KIAA1109, RNASEH2C, FBXO11, UBA5, RNASEH2B, THOC6, IFIH1, RNASEH2A, PIGL, MED12, ERF, NONO, NFIX, KRAS, HRAS, H3-3A, FKTN, EFNB1, MAFB, SLC26A2, DPYS, DYNC1H1, COL11A2, COL11A1, CHN1, NRAS, PIK3CA, PPP2CA, PPP2R1A, PPP3CA, RAC1, RYR1, SET, TBCD, TCF20, PCGF2, KAT6A, KDM5C, HERC2, PIGQ, NRXN1, BRCA2, NPHP3-ACAD11

Long Qt Syndrome 3 Omim

In a male infant diagnosed with ventricular arrhythmias and cardiac decompensation in utero at 28 weeks' gestation and with LQT3 at birth, Miller et al. (2004) identified heterozygosity for a mutation in the SCN5A gene (R1623Q; 600163.0007).

SCN4B, KCNQ1, SCN5A, KCNH2, KCNE1, KCNQ1OT1, KCNE2, CAV3, NOS1AP, KCNA4, KCNA5, KCNK3, EDA, SGK1, GJB6, AKAP9, HAND2, HGS, RWS, SNTA1, CALM1, SRSF5, ERBB2, CALM2, SCD, CACNA1C, ATN1, HARS1, GOLGA2, ATP2B4

Long Qt Syndrome 13 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-13 (LQT13) is caused by heterozygous mutation in the KCNJ5 gene (600734) on chromosome 11q24. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Yang et al. (2010) studied a large 4-generation Chinese family segregating autosomal dominant long QT syndrome (LQTS).
Long Qt Syndrome 2 Omim

A number sign (#) is used with this entry because long QT syndrome-2 (LQT2) is caused by heterozygous mutation in the HERG gene (KCNH2; 152427) on chromosome 7q36. Digenic inheritance has also been reported; see MOLECULAR GENETICS. There is evidence that mutation in the KCR1 gene (ALG10B; 603313) on chromosome 12q12 confers reduced susceptibility to acquired long QT syndrome-2. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).
Long Qt Syndrome 10 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-10 (LQT10) and familial atrial fibrillation-17 (ATFB17) are caused by heterozygous mutation in the SCN4B gene (608256) on chromosome 11q23. For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583). Clinical Features Long QT Syndrome 10 Medeiros-Domingo et al. (2007) reported a 5-year-old Mexican mestizo girl who at 21 months of age was found to have asymptomatic bradycardia with rates less than 60 bpm. An ECG revealed profound QT prolongation with a QTc of 712 ms and intermittent 2:1 AV block; during 1:1 conduction, macroscopic T-wave alternans was observed.
Cardiac Arrhythmia, Ankyrin-B-Related Omim

A number sign (#) is used with this entry because a cardiac arrhythmia syndrome with variable manifestations can be caused by heterozygous mutation in the ankyrin-B gene (ANK2; 106410) on chromosome 4q25-q26. Long QT syndrome-4 can also be caused by mutation in the ANK2 gene. For a general phenotypic description and a discussion of genetic heterogeneity of long QT syndrome, see 192500. Description Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.'
Long Qt Syndrome 14 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-14 (LQT14) is caused by heterozygous mutation in the CALM1 gene (114180) on chromosome 14q32. For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Crotti et al. (2013) reported an Italian girl who underwent cardiac arrest due to ventricular fibrillation (VF) at age 6 months. Electrocardiogram (ECG) after defibrillation showed a markedly prolonged QTc interval (630 ms), frequent episodes of T-wave alternans, and intermittent 2:1 atrioventricular block. Echocardiogram showed normal cardiac anatomy and contractile function.
Long Qt Syndrome 12 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-12 (LQT12) is caused by heterozygous mutation in the alpha-1 syntrophin gene (SNTA1; 601017) on chromosome 20q11. Description Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Molecular Genetics Ueda et al. (2008) analyzed the SNTA1 gene in 50 unrelated patients with long QT syndrome who were negative for mutations in the 11 known LQTS genes and identified a heterozygous missense mutation (A390V; 601017.0001) in 1 patient.
Long Qt Syndrome 9 Omim

A number sign (#) is used with this entry because long QT syndrome-9 (LQT9) is caused by heterozygous mutation in the CAV3 gene (601253), which encodes caveolin-3, on chromosome 3p25. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Molecular Genetics Vatta et al. (2006) analyzed the CAV3 gene (601253) in 905 unrelated patients with long QT syndrome who had previously been tested for mutations in known LQT genes; in 6 patients, they identified 4 heterozygous missense mutations (601253.0016-601253.0019, respectively) that were not found in more than 1,000 control alleles.
Long Qt Syndrome 1 Omim

A number sign (#) is used with this entry because long QT syndrome-1 (LQT1) is caused by heterozygous mutation in the KQT-like voltage-gated potassium channel-1 gene (KCNQ1; 607542) on chromosome 11p15. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). Genetic Heterogeneity of Long QT Syndrome Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), and LQT15 (616249), caused by mutation in the CALM2 gene (114182).
Familial Long Qt Syndrome Orphanet

Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Epidemiology Disease prevalence is estimated at close to 1 in 2,500 live births. Clinical description The two cardinal manifestations of LQTS are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. Etiology The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes ( KCNQ1 , KCNH2 , KCNE1 , KCNE2 , CACNA1c , CAV3 , SCN5A , SCN4B ) cause the disease by prolonging the duration of the action potential.
Long Qt Syndrome 15 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-15 (LQT15) is caused by heterozygous mutation in the CALM2 gene (114182) on chromosome 2p21. For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Crotti et al. (2013) reported a Hispanic girl in whom fetal bradycardia was first noted at 21 weeks' gestation; fetal echocardiogram showed normal cardiac anatomy and function except for bradycardia. Two hours after birth she exhibited sinus bradycardia, T-wave alternans, markedly prolonged QTc (690 ms), and 2:1 AV block. At 3 weeks of age, she underwent cardiac arrest with multiple episodes of ventricular fibrillation (VF), during which time she also suffered a cerebral infarction of the right parietal lobe.
Long Qt Syndrome 5 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-5 (LQT5) is caused by heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Molecular Genetics In affected members of 2 families with long QT syndrome, Splawski et al. (1997) identified heterozygosity for different missense mutations in the KCNE1 gene (176261.0003-176261.0004).
Long Qt Syndrome 6 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-6 (LQT6) is caused by heterozygous mutation in the KCNE2 gene (603796) on chromosome 21q22. Digenic inheritance has also been reported; see MOLECULAR GENETICS. Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Clinical Features Abbott et al. (1999) reported a healthy 38-year-old Caucasian female who had had ventricular fibrillation while jogging.
Long Qt Syndrome 11 Omim

A number sign (#) is used with this entry because of evidence that long QT syndrome-11 (LQT11) is caused by heterozygous mutation in the gene encoding the A-kinase anchor protein-9 (AKAP9; 604001) on chromosome 7q21. One such family has been reported. For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). Description Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). Molecular Genetics In a 13-year-old Caucasian girl with long QT syndrome, who was negative for mutation in the known LQT genes, Chen et al. (2007) identified heterozygosity for a ser1570-to-leu (S1570L; 604001.0001) substitution in the AKAP9 gene.

Porokeratosis 3, Multiple Types Omim

Zhang et al. (2015) analyzed 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified heterozygosity for 28 mutations in the MVK gene in 39 probands, including a large 10,076-bp deletion in 4 of them (251170.0019).

PMVK, MVK, TP53, MVD, FDPS, XRS, GGPS1, ARPC3, EMILIN2

Porokeratosis Of Mibelli Orphanet

A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. Epidemiology Porokeratosis of Mibelli (PM) prevalence is unknown. It is more prevalent in males than females with a ratio of 2-3:1. Clinical description Disease onset usually occurs in children, adolescents or young adults (sometimes immunosuppressed). It presents with brownish dry hyperkeratotic plaques of varying size that may coalesce. The lesions have a sharply-defined keratotic border and are usually asymptomatic, but rarely pruritic.
Porokeratosis Of Mibelli Gard

Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation , genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.
Porokeratosis 1, Multiple Types Omim

A number sign (#) is used with this entry because of evidence that multiple types of porokeratosis (POROK1) are caused by heterozygous mutation in the PMVK gene (607622) gene on chromosome 1q21. Description Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.

Mental Retardation, X-Linked, Syndromic, Cabezas Type Omim

In a monozygotic twin pair with X-linked mental retardation, Ravn et al. (2012) identified a 28-kb deletion on the X chromosome, which partially encompassed the CUL4B gene and which was inherited from the unaffected mother.

CUL4B, LAMP2

Hereditary Leiomyomatosis And Renal Cell Cancer Omim

The average age at diagnosis of renal cell carcinoma was 43 years (range, 28 to 70 years). Twenty (74.1%) of 27 patient died of metastatic renal cell carcinoma.

FH, CCND1, HIF1A, GABPA, BCL2, BTK, NFE2L2, SDHB, SORD, MME, HSPA4, TNF, SARDH, TP53, VHL, SDS, CDKN1B, SOX11, ACTB, STAT5B, AURKA, SPIB, SPG7, STAT5A, ABL1, XRCC1, BAP1, MED12, NR1I3, TRIM13, CIB1, SMUG1, SETD2, BHD, MALAT1, AURKB, MYC, ROS1, PTPN12, AKT1, ARR3, CASR, CD40, CDKN2B, CCR5, CXADR, EIF4E, EZH2, FOXM1, FUS, HSP90AA1, IGH, IL6, IL10, LDHA, LTA, ACLY, PAX5, PRKAR1A, PTGS2, CXADRP1

Hereditary Leiomyomatosis And Renal Cell Cancer Gard

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthood as skin growths appear on the torso, arms, legs, and occasionally on the face. They tend to increase in size and number over time. About 10% to 16% of people with HLRCC develop a type of kidney cancer called renal cell cancer; symptoms of this cancer may include lower back pain, blood in the urine, and/or a mass in the kidney that can be felt by a physician. Some people have no symptoms until the cancer is advanced. HLRCC is caused by mutations in the FH gene and is inherited in an autosomal dominant manner.
Fh Tumor Predisposition Syndrome Gene_reviews

Summary Clinical characteristics. FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size.
Hereditary Leiomyomatosis And Renal Cell Cancer Syndrome Wikipedia

Reed’s syndrome Other names Familial leiomyomatosis cutis et uteri Micrograph showing the characteristic hyalinized papillary cores found in some hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas. H&E stain . Reed’s syndrome is a rare inherited condition characterised by multiple cutaneous leiomyomas and, in women, uterine leiomyomas . It predisposes for renal cell cancer , an association denominated hereditary leiomyomatosis and renal cell cancer , [1] [2] and it is also associated with increased risk of uterine leiomyosarcoma . [3] The syndrome is caused by a mutation in the fumarate hydratase gene, which leads to an accumulation of fumarate . The inheritance pattern is autosomal dominant . Contents 1 Signs and symptoms 1.1 Associated conditions 2 Cause 3 Pathogenesis 4 Diagnosis 4.1 Histology 4.2 Differential diagnosis 5 Treatment 6 Prognosis 7 History 8 Notes 9 References 10 External links Signs and symptoms [ edit ] Almost all women present with uterine fibroids, approximately 76% with dermal manifestations and 10-16% with renal tumors. [3] The uterine fibroids tend to occur at younger age and larger and more numerous than in general population. They may be distinguishable from sporadic fibroids by special histological features such as prominent nucleoli with perinucleolar halos. [4] The skin presentation is of asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs ( multiple cutaneous leiomyoma ), although they may occur anywhere, including the face.
Hereditary Leiomyomatosis And Renal Cell Cancer Medlineplus

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus . This condition also increases the risk of kidney cancer. In this disorder , growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker.
Hereditary Leiomyomatosis And Renal Cell Cancer Orphanet

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Epidemiology The prevalence is unknown. Over 200 families with HLRCC have been reported. Clinical description Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common and usually present at around the age of 25 (range from 10-47 years) as firm papules or nodules that are skin colored to light brown. They are usually localized to the trunk and extremities but sometimes on the face.

Buschke-Ollendorff Syndrome Omim

The proband of 1 family, a 58-year-old man, had been found to have osteopoikilosis at the age of 28 when he was evaluated for stiff joints.

LEMD3, HMGA2, ELN, EXT1, GZMH, GZMB, PRDM16

Isolated Osteopoikilosis Orphanet

A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
Osteopoikilosis Gard

Osteopoikilosis is a condition in which many small, roundish spots are found in the bones, particularly near the joints. These spots are areas of bone tissue that did not develop properly and are exceptionally dense. They usually do not cause symptoms and do not change over time. Osteopoikilosis can be diagnosed at any age and is often detected by chance when an otherwise healthy individual has x-rays for an unrelated reason, such as injury. This condition may occur randomly with no other features ( sporadic ), or may be inherited from a parent as a part of Buschke Ollendorff syndrome .
Osteopoikilosis Wikipedia

Osteopoikilosis Osteopoikilosis on an X-ray of the hands Specialty Medical genetics Osteopoikilosis is a benign , autosomal dominant sclerosing dysplasia of bone characterized by the presence of numerous bone islands in the skeleton. [1] Contents 1 Presentation 2 Epidemiology 3 See also 4 References 5 External links Presentation [ edit ] The radiographic appearance of osteopoikilosis on an X-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones. This is a systemic condition. It must be differentiated from blastic metastasis , which can also present radiographically as white densities interspersed throughout bone. Blastic metastasis tends to present with larger and more irregular densities in less of a uniform pattern. Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger. The distribution is variable, though it does not tend to affect the ribs, spine, or skull. [2] Epidemiology [ edit ] Men and women are affected in equal number, [3] reflecting the fact that osteopoikilosis attacks indiscriminately.

Macroglobulinemia, Waldenstrom, Susceptibility To, 1 Omim

Royer et al. (2010) analyzed questionnaire-based data from 103 WM patients and 272 unaffected relatives from 35 families with WM and 46 families with mixed WM/B-cell disorders, as well as 28 patients with sporadic disease. The nature and course of the disease process did not differ between those with and without a significant family history.

MYD88, IL6, BTK, PAX5, CXCR4, BCL2, IGH, KRT20, CD19, MS4A1, MIR155, TP53, CXCL12, IRAK1, STOML2, IL4, IRF4, UCHL5, CD40LG, CD27, HAS1, MYOM2, USP14, SDC1, CDR3, SYK, TP73, ZAP70, IL10, ANPEP, MALT1, NAMPT, TNFSF13B, LPL, TNFSF13, MYC, PIK3CD, SMUG1, AKT1, BACH2, MTOR, AICDA, FCGR3A, FCER2, BCR, TCL1A, RAPH1, ARHGAP24, SLC28A1, EGLN3, TNFSF10, TNFRSF13C, TNFSF11, ARID1A, PRIMA1, IGHV3OR16-7, AIMP2, GRAP2, SLC35B2, LAPTM5, MIR206, MIR23B, XPO1, XBP1, VWF, VEGFA, MIR363, LOC102723407, CLEC12A, HDAC9, TCL1B, ANP32B, POLDIP2, IBTK, RNF19A, IGHV4-34, MAPK8IP2, TNFAIP3, ACSBG1, IGHV3-69-1, IGHV3-23, CD274, BLNK, ZHX2, ADAMTS13, IRAK4, LEF1, TLR7, AHSA1, COLEC10, CXCL13, EGLN1, EXOC2, TNFRSF13B, PXN, TNF, CD70, HCK, HAS2, GLI2, FGFR3, EFNB2, CTRL, CTNNB1, MAPK14, CRP, CRK, CD52, CDKN2A, CD79B, CD79A, CD40, HMMR, CD38, TNFRSF8, CD22, CD6, CCND3, CBL, SERPING1, BSG, BRAF, BLM, BCL9, BCL6, CCND1, ANXA5, HCLS1, IL1B, AURKA, PLCG2, STAT5B, STAT5A, SPIB, SPI1, SOAT1, CCL3, RAF1, PTPRC, MAPK3, MAPK1, PRKCD, POU2F2, POU2F1, POU2AF1, PIK3CG, IL2RA, PIK3CB, PIK3CA, NOTCH2, NOS2, NOS1, NCAM1, CD200, MMP8, MCL1, KIT, ITGAM, ITGA4, ISG20, IL4R, LOC102724971

Macroglobulinemia Wikipedia

This article needs more medical references for verification or relies too heavily on primary sources . Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed . Find sources: "Macroglobulinemia" – news · newspapers · books · scholar · JSTOR ( July 2020 ) Macroglobulinemia Specialty Hematology Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood . It is a plasma cell dyscrasia , resembling leukemia , with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes.
Waldenstrom Macroglobulinemia Mayo_clinic

Overview Waldenstrom macroglobulinemia (mak-roe-glob-u-lih-NEE-me-uh) is a rare type of cancer that begins in the white blood cells. If you have Waldenstrom macroglobulinemia, your bone marrow produces too many abnormal white blood cells that crowd out healthy blood cells. The abnormal white blood cells produce a protein that accumulates in the blood, impairs circulation and causes complications. Waldenstrom macroglobulinemia is considered a type of non-Hodgkin's lymphoma. It's sometimes called lymphoplasmacytic lymphoma. Symptoms Waldenstrom macroglobulinemia is slow growing and may not cause signs and symptoms for many years.
Waldenström Macroglobulinemia Orphanet

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. Epidemiology WM has an overall incidence of 1/260,000 persons/year in the USA and a prevalence estimate of about 1/102,220 in Europe. It accounts for approximately 2% of all hematological malignancies. Clinical description The median age at diagnosis is 72 years and it is twice as frequent in men. The main clinical features are hepatosplenomegaly, lymphadenopathy, constitutional symptoms, oronasal bleeding, hyperviscosity syndrome and cytopenia. Fatigue related to normochromic normocytic anemia is the most common presenting symptom.
Macroglobulinemia, Waldenstrom, Susceptibility To, 2 Omim

For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see 153600. Mapping McMaster et al. (2006) performed a genomewide linkage analysis in 11 high-risk families with WM that were informative for linkage, for a total of 122 individuals with DNA samples, including 34 patients with WM and 10 patients with IgM monoclonal gammopathy of undetermined significance (IgM MGUS). The strongest evidence of linkage was found on chromosome 1q and 4q when patients with WM and with IgM MGUS were both considered affected; nonparametric linkage scores were 2.5 (p = 0.0089) and 3.1 (p = 0.004), respectively. Other locations suggestive of linkage were found on chromosomes 3 and 6. Results of 2-locus linkage analysis were consistent with independent effects.

Phenylketonuria Omim

Pitt and O'Day (1991) found only 3 persons with cataracts among 46 adults, aged 28 to 71 years, with untreated PKU. They concluded that PKU is not a cause of cataracts. ... Huntley and Stevenson (1969) described 2 sisters with PKU who had a total of 28 pregnancies. Sixteen ended in spontaneous first-trimester abortion.

PAH, CAT, G6PD, NEFH, PSPH, HNF1A

Schimke Immunoosseous Dysplasia Gene_reviews

Frequency of Physical, Radiographic, and Laboratory Features in Individuals with Schimke Immunoosseous Dysplasia Confirmed on Molecular Testing View in own window Feature Number of Affected Individuals with Feature Total Individuals with SIOD 1 Growth IUGR 2 58 (70%) 83 Short stature 82 (99%) 83 Skeletal features Short neck 66 (86%) 77 Short trunk 68 (85%) 80 Lumbar lordosis 57 (74%) 77 Ovoid flat vertebrae 54 (77%) 70 Hypoplastic pelvis 44 (65%) 68 Abnormal femoral heads 64 (89%) 72 Renal disease Proteinuria or nephropathy 84 (99%) 85 FSGS 43 (83%) 52 Hematologic abnormalities T-cell deficiency 47 (76%) 62 Lymphopenia 58 (74%) 78 Neutropenia 27 (38%) 71 Thrombocytopenia 19 (25%) 77 Anemia 43 (57%) 75 Physical features Broad nasal tip 61 (78%) 78 Wide and depressed nasal bridge 53 (65%) 81 Protruding abdomen 59 (77%) 77 Pigmented macules 57 (70%) 81 Unusual hair 43 (63%) 68 Microdontia 31 (53%) 59 Corneal opacities 11 (17%) 65 Development Developmental delay 26 (34%) 77 Academic delay 10 (28%) 36 Vasculature Headaches 28 (47%) 60 TIAs 31 (41%) 76 Strokes 30 (43%) 69 Other Hypothyroidism 24 (36%) 66 Non-Hodgkin lymphoma 3 3 (3%) 86 FSGS = focal segmental glomerulosclerosis; UGR = intrauterine growth retardation; TIAs = transient ischemic attacks 1.

SMARCAL1, SMARCA4, SMARCA2, ANKS4B, PANK2, AKR1B10, ANGPTL4, ANGPTL2, ELN, PTN, SMARCA1, GM2A, NOTCH1, MPL, CHPT1, IL7R, DHDDS, IL7, ZRANB3, HEXB, LINC02605

Schimke Immunoosseous Dysplasia Omim

A low nasal bridge and a bulbous nasal tip were noted in 26 of 32 and 28 of 33 patients, respectively. The possibility of genetic heterogeneity is obviously great and is suggested perhaps by the fact that 7 of 26 patients had corneal opacities.
Schimke Immuno-Osseous Dysplasia Orphanet

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Epidemiology Approximately 50 cases have been reported in the literature so far, without any apparent sex, ethnic or geographic predilection. In North America, the prevalence of SIOD is estimated at 1 in 1-3 million live births. Clinical description The main clinical features are spondyloepiphyseal dysplasia and short stature, defective cellular immunity with increased susceptibility to life-threatening infections and a progressive steroid-resistant nephrotic syndrome that leads to end-stage renal failure in nearly two thirds of patients. Hypertension and proteinuria are early common features of SIOD. Almost all patients have T-cell deficiency with a normal CD4/CD8 ratio.
Schimke Immunoosseous Dysplasia Gard

Schimke immunoosseous dysplasia (SIOD) is a condition that results in short stature, kidney disease (nephropathy), and a weakened immune system. Some people develop a severe form in early childhood, and others develop a milder form in childhood or later. Short stature is due to spondyloepiphyseal dysplasia , which involves abnormal development of the spine and the ends of the long bones. Nearly all people with SIOD have kidney disease, which progresses to end-stage renal disease . Most people with SIOD also have T-cell deficiency causing an increased risk for infections, which can be life-threatening.
Schimke Immuno-Osseous Dysplasia Medlineplus

Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae ), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells . T cells identify foreign substances and defend the body against infection.