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Jervell And Lange-Nielsen Syndrome Wikipedia

PMID 18606002 . ^ a b c Tranebjaerg, L.; Samson, R.A.; Green, G.E. (1993).

KCNQ1, KCNE1, KCNE1B, RWS, GAST, KCNH2, HFE, NT5E, SCN5A, KCNQ4, KCNE2
- Jervell And Lange-Nielsen Syndrome Gene_reviews
  
  In one Norwegian individual with JLNS resulting from homozygosity for the c.572_576del pathogenic variant in KCNQ1 , histopathologic examination of the temporal bones showed severe atrophy of the stria vascularis and the organ of Corti with absence of cochlear nerve fibers [Tranebjærg L & Merchant SM, unpublished data (2012)].
- Jervell And Lange-Nielsen Syndrome 1 Omim
  
  A number sign (#) is used with this entry because of evidence that this form of Jervell and Lange-Nielsen syndrome (JLNS1) is caused by homozygous or compound heterozygous mutations in the KCNQ1 gene (607542) on chromosome 11p15. Long QT syndrome-1 (LQT1; 192500), also known as Ward-Romano syndrome, is caused by heterozygous mutation in the KCNQ1 gene. Description The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957). Genetic Heterogeneity of Jervell and Lange-Nielsen Syndrome Also see JLNS2 (612347), caused by mutation in the KCNE1 gene (176261) on chromosome 21q22. Clinical Features Jervell and Lange-Nielsen (1957) reported a family in which 4 of 6 children, born to unrelated parents, had congenital deafness and prolonged QT interval and died suddenly in childhood.
- Jervell And Lange-Nielsen Syndrome Orphanet
  
  A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias. Epidemiology The disease is very rare. Prevalence is unknown and varies depending on the population studied (1/100,000-1/1,000,000) but is more common in countries in which consanguineous marriage is frequent. Clinical description Almost 50% of patients become symptomatic before age of 3 years. The typical presentation of Jervell and Lange-Nielsen syndrome (JLNS) is a congenitally deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Deafness is congenital, bilateral, profound and sensorineural. The QT interval is usually markedly prolonged (>500 ms) and associated with tachyarrhythmias (including ventricular tachycardia, episodes of Torsades de Pointes (TdP) ventricular tachycardia and ventricular fibrillation) that may cause syncope or sudden death.
- Jervell Lange-Nielsen Syndrome Gard
  
  Jervell Lange-Nielsen syndrome (JLNS) is an inherited disorder characterized by deafness present at birth and abnormalities of the electrical system of the heart. It is a form of long QT syndrome . This refers to the QT interval measurement seen on the electrocardiogram . The severity of cardiac symptoms seen in individuals varies from no apparent symptoms to increasing heartbeat ( tachycardia ), fainting, and cardiac arrest. There are two different types of JLNS type: 1, caused by mutations in the KCNQ1 gene, and type 2, caused by mutations in the KCNE1 gene. Both types are inherited in an autosomal recessive manner. The treatment of individuals with JLNS focuses on treating hearing loss utilizing devices such as cochlear implants and preventing other symptoms such as fainting and cardiac arrest.
- Jervell And Lange-Nielsen Syndrome 2 Omim
  
  A number sign (#) is used with this entry because of evidence that Jervell and Lange-Nielsen syndrome-2 (JLNS2) is caused by homozygous or compound heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22. Long QT syndrome-5 (LQT5; 613695) is caused by heterozygous mutation in the KCNE1 gene. Description The Jervell and Lange-Nielsen syndrome is an autosomal recessive syndrome of abnormal cardiac ventricular repolarization with prolonged QT interval and bilateral congenital deafness. For a general description and a discussion of genetic heterogeneity of Jervell and Lange-Nielsen syndrome, see 220400. Mapping In a small consanguineous British family with JLNS, Tyson et al. (1997) excluded linkage to KCNQ1 (607542), and found that the affected children were homozygous by descent for markers on chromosome 21, in a region containing the KCNE1 gene (176261).
Robinow Syndrome Wikipedia

By 2002, over 100 cases had been documented and introduced into medical literature. [1] References [ edit ] ^ a b c d e f g h i j k l m n o p Patton, M A; Afzal, A. R (2002).

WNT5A, DVL3, DVL1, FZD2, ATR, RAF1, CEP63, CENPJ, LZTR1, SOS1, RIT1, PTPN11, KRAS, DNAAF4, ROR2, PTCH1, SYK, NTRK1, IGF1, GH1
- Ror2-Related Robinow Syndrome Gene_reviews
  
  Summary Clinical characteristics. ROR2 -related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood. Diagnosis/testing.
- Robinow Syndrome, Autosomal Dominant 2 Omim
  
  A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-2 (DRS2) is caused by heterozygous mutation in the DVL1 gene (601365) on chromosome 1p36. Description Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310).
- Robinow Syndrome, Autosomal Dominant 1 Omim
  
  A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-1 (DRS1) is caused by heterozygous mutation in the WNT5A gene (164975) on chromosome 3p14. Description Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310). Clinical Features Robinow et al. (1969) reported a family with a short stature syndrome inherited over 6 generations. Because of bulging forehead, depressed nasal bridge, and short limbs, achondroplasia (ACH; 100800) was suggested; however, the spine and pelvic radiologic findings were nearly normal.
- Robinow Syndrome Orphanet
  
  Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Epidemiology Exact prevalence is unknown. About 200 cases have been reported to date. Cases have been reported primarily from the USA, Arab countries, Turkey, Czech Republic and Slovakia, the Indian subcontinent, and Brazil. Prevalence in other geographic areas is unknown. There is an equal male-to-female ratio. Clinical description Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome, see this term) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome, see this term).
- Robinow Syndrome, Autosomal Dominant 3 Omim
  
  A number sign (#) is used with this entry because of evidence that autosomal dominant Robinow syndrome-3 (DRS3) is caused by heterozygous mutation in the DVL3 gene (601368) on chromosome 3q27. Description The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016). For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (268310). Molecular Genetics In a cohort of 34 individuals with a clinical diagnosis of possible Robinow syndrome, White et al. (2016) performed direct Sanger sequencing of the penultimate and final exons of the DVL1 (601365), DVL2 (602151), and DVL3 genes, and identified 1 patient with a 1-bp deletion within the final exon of DVL3 (601368.0001). Sanger sequencing the penultimate and final exons of DVL1, DVL2, and DVL3 in 17 Robinow syndrome cases from an in-house database identified 4 more patients with mutations in DVL3, including two 1-bp deletions (601368.0002-601368.0003) and 2 splice site mutations (601368.0004-601368.0005).
- Robinow Syndrome Medlineplus
  
  Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant. Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis ); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes , a short nose with an upturned tip, a wide nasal bridge , and a broad and triangle-shaped mouth. Together, these facial features are sometimes described as "fetal facies" because they resemble the facial structure of a developing fetus.
- Autosomal Dominant Robinow Syndrome Orphanet
  
  The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Epidemiology About 100 cases of this type have been reported in the literature to date. Clinical description The clinical signs are generally milder in dominant cases of RS than in the AR form. In the presence of rib fusions, the recessive form of the syndrome should be considered. Etiology Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome.
- Robinow Syndrome Gard
  
  Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis ; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development.
Bullous Pemphigoid Wikipedia

PMID 25901938 . ^ Langan SM, Smeeth L, Hubbard R, Fleming KM, Smith CJ, West J (July 2008).

HLA-DQB1, HLA-DRB1, CXCL8, COL17A1, DPP4, ZAP70, DST, MMP9, DSPP, IL17A, IL5, CCL18, FOXP3, CD274, IGHE, IL23A, PLG, IFNA1, IFNA13, RNASE2, PLEC, IL2RA, ABCB1, HLA-DQA1, IL10, ISG20, TGFB1, SELL, SELE, MRC1, RNASE3, DSG3, IL31, C3, RBM45, IL17RA, ABCC8, SOAT1, SLC5A2, SELPLG, SELP, DPP9, HT, CXCL5, TNF, CCL22, CCL17, C9orf72, CCL11, CELIAC2, S100A9, S100A8, TSLP, ABCC11, PRPF6, TXNRD1, IL24, POSTN, IL17B, C5AR2, DPP7, IL22, CCL26, CD163, TNFSF12, HSD17B6, TNFRSF12A, KRT20, IL17RB, SEMA6A, VEGFA, IL17RC, VCAM1, SEMA4D, ADAM10, RAC1, MAPK1, HSP90AA1, HLA-C, NR3C1, GPT, GLP1R, GLB1, FCGR3A, EPHB2, DSP, DSG1, DOCK3, TIMM8A, CD55, CYP2D6, CYP2B6, CSF2, CD40, CD22, MS4A1, CASP3, BDNF, BCL2, AQP3, ICAM1, IFNG, IGHG3, CD46, PPBP, MED1, PKD1, PDCD1, PEBP1, MUC1, FAS, MMP12, MMP3, MIF, LAD1, IL1A, ITGB4, ITGB3, ITGB1, ITGAM, ITGA6, CXCL10, IL13, IL4, IL1RN, IL1B, TNFSF12-TNFSF13
- Bullous Pemphigoid Mayo_clinic
  
  Overview Bullous pemphigoid (BUL-us PEM-fih-goid) is a rare skin condition that causes large, fluid-filled blisters. They develop on areas of skin that often flex — such as the lower abdomen, upper thighs or armpits. Bullous pemphigoid is most common in older adults. Bullous pemphigoid occurs when your immune system attacks a thin layer of tissue below your outer layer of skin. The reason for this abnormal immune response is unknown, although it sometimes can be triggered by taking certain medications. Bullous pemphigoid often goes away on its own in a few months, but may take as many as five years to resolve.
- Bullous Pemphigoid Gard
  
  Bullous pemphigoid is a skin disorder characterized by large blisters. The blisters are usually located on the arms, legs, or middle of the body. In some people, the mouth or genitals are also affected. The blisters may break open and form ulcers or open sores. Bullous pemphigoid usually occurs in older persons and is rare in young people. Symptoms may come and go. In most patients, the condition goes away after several years.
- Pemphigoid Wikipedia
  
  Philadelphia, Pa: Saunders Elsevier. pp. 377–396. ^ a b c d e Bernard P, Borradori L (2018). "Pemphigoid Group" . In Bolognia JL (ed.). ... Wolters Kluwer . Retrieved 2019-01-17 . ^ Vaillant L, Bernard P, Joly P, Prost C, Labeille B, Bedane C, et al. ... PMID 24424192 . ^ Schmidt E, della Torre R, Borradori L (July 2011). "Clinical features and practical diagnosis of bullous pemphigoid" . ... PMID 21641080 . ^ Marazza G, Pham HC, Schärer L, Pedrazzetti PP, Hunziker T, Trüeb RM, et al. ... PMID 4558699 . ^ Leonard JN, Wright P, Williams DM, Gilkes JJ, Haffenden GP, McMinn RM, Fry L (March 1984). "The relationship between linear IgA disease and benign mucous membrane pemphigoid".
- Bullous Pemphigoid Orphanet
  
  A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission. Epidemiology Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. It has an estimated prevalence of 1/4,000 in Europe. The incidence is reported to be increasing but currently ranges between 2-22/1,000,000 worldwide. Clinical description BP predominantly affects the elderly with an average age of 80 years and is significantly associated with neurological disorders.
Von Hippel–lindau Disease Wikipedia

. ^ Kumar, P. S.; Venkatesh, K.; Srikanth, L.; Sarma, P. V.; Reddy, A. R.; Subramanian, S.; Phaneendra, B.
Atypical Depression Wikipedia

PMID 21103169 . ^ Perugi G, Akiskal HS, Lattanzi L, Cecconi D, Mastrocinque C, Patronelli A, Vignoli S, Bemi E (1998).

LEP, CRP, IL6, MAOA, SLC6A4, MCHR2, MCHR2-AS1
Umbilical Hernia Wikipedia

Case Reports in Surgery . doi : 10.1155/2019/3806358 . PMID 31583155 . ^ Barreto L, Khan AR, Khanbhai M, Brain JL (July 2013).

CHRNA7, PCSK5, LRP1, CDKN1C, FLNA, IGF2, KCNQ1OT1, PIGN, MKS1, RAB23, MBTPS2, DACT1, IFT81, LMOD1, ACTG2, GRIP1, WDR60, SPECC1L, CD96, SEMA3E, TP63, YWHAE, ADNP, CHD7, THRA, TTC7A, BHLHA9, FREM2, H19, HYLS1, FREM1, CEP120, TWIST2, NEK9, WDR34, FRAS1, DYNC2H1, PORCN, NXN, IFT80, WDR35, TSHB, H19-ICR, ISL1, HOXD13, KCNQ1, LBR, LRP2, MMP2, GPC3, MMP14, GJB2, MYH11, MYLK, NFIX, PAFAH1B1, FLNB, FGFR1, PLOD1, GPC4, COL11A2, MASP1, COL11A1, CHUK, HIC1, TCN2, AFP, MTHFR, EYA2, IH, BHMT, SLC19A1, CCL21, MAPK1, EPHB2, EYA1, WDR20, GYPE, GDF11, PITX2, SDS, CD320, GYPA, GYPB, TGM1
- Omphalocele, Autosomal Omim
  
  A number sign (#) is used with this entry because of evidence that isolated omphalocele can be caused by duplication of genes on chromosome 1p31. Description An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
- Omphalocele Orphanet
  
  A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. Epidemiology In Europe, the prevalence at birth of omphalocele (isolated and syndromic forms combined) is estimated at about 1/8,000 births. At least half of patients have other abnormalities associated. Clinical description Omphalocele occurs very early in development and is typically detected prenatally. The hernia occurs at the umbilical ring allowing protrusion of the abdominal organs (midgut, liver, spleen and gonads). The protruding viscera is encased in a sac consisting of three layers: the outer amniotic layer, a middle layer of Wharton's jelly and the inner peritoneal layer.
- Omphalocele Wikipedia
  
  .; Eik‐Nes, S. H.; Kiserud, T.; Hellevik, L. R. (1995). "Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study" .
- Omphalocele, X-Linked Omim
  
  Clinical Features An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). Also see 164750 for an autosomal form. Inheritance Havalad et al. (1979) described a family with 4 affected males in a pedigree pattern suggestive of X-linked inheritance. Two maternal half brothers and 2 grandsons of 1 of them, through a daughter, were affected. Abdomen - Omphalocele Inheritance - X-linked ▲ Close
Attrition (Dental) Wikipedia

. ^ a b Casanova-Rosado JF, Medina-Solís CE, Vallejos-Sánchez AA, Casanova-Rosado AJ, Maupomé G, Avila-Burgos L. Dental attrition and associated factors in adolescents 14 to 19 years of age: a pilot study.

AGRP, ARTN, TERT, TERF2, TP53, TBPL1, ATM, CD34, WRN, CRP, DKC1, STIM1, TERC, STAR, TNF, ADIPOQ, TTN, PER2, WASF1, SRY, SETD1A, SMARCA4, WASF2, CHEK2, SIRT1, EXD2, ZNF395, STIM2, RELT, CDAN1, CMC1, MIR380, ERICD, LOC110806263, SPINK1, SAA1, SAA2, AHSG, APOE, KLK3, ATP5PF, ATRX, OPN1SW, BRCA2, PTTG1IP, CALR, CDKN2A, TPP1, CSF3, VCAN, CTLA4, RCAN1, DSPP, EPO, EZH2, FANCD2, GNAQ, GSTM1, IL1B, IL5, NGF, OAT, ABCB1, PSEN1, RAD51, MNS16A
Bone Tumor Wikipedia

.; Hornicek, Francis J.; Wolfe, Michael W.; Jennings, L. Candace; Gebhardt, Mark C.; Mankin, Henry J. (1998-06-01).

MMP9, MMP2, PLAU, TGFBR2, PLOD2, BAP1, NCOA3, PTGS2, EWSR1, IDH2, TNFRSF11A, PTHLH, EGFR, TNFRSF11B, EXT1, USP6, FOS, TNFSF11, IL6, ESR1, MDM2, RUNX2, ERBB2, VIM, IDH1, HLA-DOA, HIF1A, GNAS, TP53, FOSB, MET, MMP12, TBX1, SS18, SPARC, SDC2, HPGDS, ANBC, BGLAP, CTLA4, HNF1A, PDGFD, PPP1R2C, KCNIP4, TMPRSS2, MUC16, CHDM, TGM2, PTRH1, TCF7, CCL27, ASRGL1, EBF3, SYT1, MIR145, MIR199A1, SSX2, SPP1, MIR199A2, CXADRP1, SPG7, SSX2B, VDR, BIRC7, KHDRBS1, PDXP, PEG10, SMUG1, QPCT, PDPN, TRIM13, NR1I3, SMARCB1, ADGRA2, ATRNL1, TNFSF10, PDLIM3, ABCC3, GDE1, NANS, BTG4, FGF23, BCOR, NAT10, CXCR4, YY1, ACKR3, KLF4, ACP5, SLPI, LYST, ATN1, ACE, CYP1A1, CXADR, CTSL, CTSK, CTSB, CTNNB1, CCN2, CSK, CRP, KLF6, COL1A1, CDKN2A, TSPAN31, CDK4, CDH13, RUNX3, RUNX1, CAV1, CASR, BTF3P11, BMP2, ATHS, ARR3, ANXA3, ALPP, AKT1, ERBB3, ERCC2, ERG, EXT2, RPS6KA3, PTH, PRKAR1A, POU5F1, ABCB1, SERPINF1, ACTB, NOTCH1, NME1, NFATC2, CD99, IL11RA, CXCR2, IL1B, ICAM1, HRAS, GSTM1, GHRH, GH1, GDF2, FUS, FOLH1, FLI1, FHL2, FGF9, FGF1, FASN, HULC
Ischemia Wikipedia

.; Olson, DaiWai M. ; Schwamm, Lee H.; Bhatt, Deepak L.; Smith, Eric E.; Maisch, Lesley (2015-10-13).

TP53, NOS3, SOD1, PPARG, CKM, REN, CXCR3, EGR1, CXCL12, SOD2, SST, CP, CD68, MAPK9, SERPINH1, XDH, S100A4, BAX, AVP, HMOX1, PLAU, IL6, PCNA, CYCS, OXT, ADORA3, ADORA1, ACTA2, CALCA, THBD, PTK2, MUC2, PRKCA, ABAT, CX3CL1, LIPC, TNFRSF1A, SF1, BECN1, LONP1, ATG5, PTGES, ADNP, MUC13, ARID1B, MAP1LC3A, MMP2, MMP14, ITGAV, CRHR2, GJB2, GJA1, HTR1B, AKT2, IL18, ANGPT2, ANXA1, HIF1A, APOE, EPO, CYP2E1, SP1, HBEGF, CRP, SLC9A1, STAT3, MFGE8, BCL2L1, THBS1, CD47, ENTPD1, SELL, BCL2, ANXA5, AKR1B1, AGTR2, ADORA2A, ADM, SLC8A1, CCL3, SELE, PON1, MMP9, ASIC1, MPO, KCNK2, NDUFB2, NGFR, NOS1, IL10, PLAT, PON2, EDN1, HSPA4, HMGB1, LGMN, PTGS2, GPT, S100B, SCN5A, CCL2, KLK1, SLC29A4
Volvulus Wikipedia

Complications [ edit ] Strangulation Gangrene Perforation Faecal peritonitis Recurrent volvulus References [ edit ] ^ a b c d e f g h i j k l m n "Anatomic Problems of the Lower GI Tract" .

TEK, RAD21, CHRM3, SMC3, PIGQ, ASXL1, FOXF1, SMC1A, DIS3L2, NIPBL, ATRX, KMT2A, HDAC8, PACS1, SETD5, SOD1, ABCB1, HSPD1, ABCG2, HPGDS, COQ2, CHMP2B, BACE1, GPT2, SLCO6A1, GSTK1, RNASE13, ABCA4, TLR2, SLA, CCL11, RALA, PRS, PLG, SLC11A2, HK1, GCLM, GCLC, ENO1, DMRT1, CTSD, LMOD2
Photophobia Wikipedia

Retrieved December 11, 2009 . ^ a b c d e f g h i j k l m n o p q r s t u v Day, Susan (January 15, 1997).

ATF6, MBTPS2, RHO, GUCA1B, GUCA1A, CNGA3, RPE65, CNNM4, AIRE, ERCC2, TAT, RGS9, ERCC5, CTNS, POLH, NLRP1, DKK1, CEP250, RIMS1, SNRNP200, ABCA4, TTLL5, PNPLA6, CRB1, ARL2BP, AIPL1, PRPF6, FSCN2, PRPF31, IFT172, SCAPER, IMPG2, SLC45A2, ARHGEF18, IKZF1, GJB6, UNC119, RNF113A, ALMS1, IFT88, KLRC4, OFD1, AP3B1, TP63, ADAM9, PROM1, AP3D1, PRPF4, PRPF8, PRPF3, LRAT, RAB28, ITM2B, IFT140, DHX38, NR2E3, TOPORS, CNGB3, MERTK, ERAP1, SPATA7, AHI1, POMGNT1, REEP6, CACNA2D4, NLRP3, TTC8, DRAM2, ZNF513, MPLKIP, HGSNAT, RDH12, IL23R, C8orf37, KCNV2, PIKFYVE, POC1B, SLC24A5, UBAC2, SLC6A19, EYS, CERKL, RGS9BP, PCARE, GTF2H5, PRCD, CDHR1, RAX2, RTN4IP1, AGBL5, SLC39A4, XPA, KIZ, KLHL7, CABP4, RPGRIP1, MCOLN1, KIAA1549, SLC7A14, OVOL2, NOD2, ANTXR1, SEMA4A, NMNAT1, ELOVL1, ZNF408, DHDDS, PITPNM3, LRMDA, ARL6, CEP78, FAM161A, XPC, IL12A-AS1, TACSTD2, IMPDH1, HARS1, HK1, HLA-A, HLA-B, HLA-DRB1, IDH3A, IDH3B, IL10, IL12A, C4A, ITGB6, CFAP410, KCNJ13, KRT3, KRT12, BBS2, LTBP2, BEST1, MAK, MAPT, MC1R, CHST6, HADHA, GUCY2D, GTF2E2, GNB3, CACNA1C, CACNA1F, LYST, CCR1, CNGB1, CNGA1, COL17A1, CRX, CST6, DDB2, TIMM8A, EDNRA, ERCC3, ERCC4, ERCC6, ESR1, FOXE3, FOXC2, OPN1MW, GJB2, GNAT2, MEFV, MITF, MPV17, ST14, NEK2, RP1, RP2, RPGR, SAG, ATXN7, SCN1A, SLC1A3, AHSG, STAT4, RLBP1, TGFBI, TLR4, TNF, TUB, TULP1, TYR, USH2A, CLRN1, AHR, ROM1, RP9, RGR, PRPH2, NRL, GPR143, OCA2, ARL3, PCNA, PCYT1A, PDE6A, PDE6C, PDE6G, PDE6H, PDE6B, PLCD1, POLA1, RBP3, OPN1LW, FAS, ALDH3A2, RDH5, CA4, OPN4, PER3, MIR182, ATRX, ALDH2, ADCYAP1, SPHK2, NUDT11, OPN3, OPA1, NES, POLQ, CLOCK, SRI, PER2, ZIC2, VRK1
Floating–harbor Syndrome Wikipedia

PMID 20358590 . (subscription required) ^ Bastaki L, El-Nabi MM, Azab AS, Gouda SA, Al-Wadaani AM, Naguib KK (2007).

SRCAP, GH1, SMARCA2, SMARCA4
- Floating-Harbor Syndrome Orphanet
  
  A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. Epidemiology Floating-Harbor syndrome prevalence and incidence are unknown. Around 100 cases have been reported in the literature to date. Clinical description Facial features include a triangular-shaped face, a prominent bulbous nose with a broad nasal bridge, a wide columella, deep-set eyes with long eyelashes, a wide mouth with a thin upper lip, low-set ears and sometimes broad thumbs and big toes. The speech defect is marked by impairment of expressive language and is often associated with a peculiar hypernasal voice. Stature is usually reported to be below the third percentile and between 2 and 4 SD below the mean.
- Floating-Harbor Syndrome Omim
  
  A number sign (#) is used with this entry because of evidence that Floating-Harbor syndrome (FLHS) is caused by heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11. Description Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. Clinical Features Robinson et al. (1988) used the designation Floating-Harbor syndrome for a syndrome that was first described by Pelletier and Feingold (1973) in a boy seen at the Boston Floating Hospital and by Leisti et al. (1975) in a patient at the Harbor General Hospital in Torrance, California.
- Floating-Harbor Syndrome Gene_reviews
  
  Summary Clinical characteristics. Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes). Diagnosis/testing. The diagnosis is established by identification of a heterozygous SRCAP pathogenic variant in those with clinical findings of FHS. Management. Treatment of manifestations: Early intervention programs, special education, and vocational training to address developmental disabilities; communication rehabilitation with sign language or alternative means of communication; and behavior management by a behavioral specialist/psychologist with consideration of medication as needed.
- Floating-Harbor Syndrome Gard
  
  Floating-Harbor syndrome (FHS) is named after the two hospitals that reported the first cases in the 1970s: Boston Floating Hospital and Harbor General Hospital in California. Signs and symptoms of FHS include short stature, skeletal abnormalities, delayed bone age, kidney problems, minor problems with hearing and vision, characteristic facial features, speech and language problems, and mild to moderate intellectual disabilities. Behavioral difficulties that are present in many children tend to improve with age. FHS is caused by a change (mutation) in the SRCAP gene and inheritance is autosomal dominant. The mutation can be inherited from a parent or can occur for the first time in a person with the syndrome.
- Floating-Harbor Syndrome Medlineplus
  
  Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California. Growth deficiency in people with Floating-Harbor syndrome generally becomes apparent in the first year of life, and affected individuals are usually among the shortest 5 percent of their age group. Bone age is delayed in early childhood; for example, an affected 3-year-old child may have bones more typical of a child of 2. However, bone age is usually normal by age 6 to 12. Delay in speech development (expressive language delay) may be severe in Floating-Harbor syndrome, and language impairment can lead to problems in verbal communication.
Surface Epithelial-Stromal Tumor Wikipedia

Retrieved June 2014. By Lee-Jones, L. Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):115-133. ^ a b c Kaphan AA, Castro CM (2014-01-01).

PIK3CA, IL17A, PHB, TP53, PPP1R13L, IL17D
3-M Syndrome Wikipedia

Retrieved November 5, 2019 . ^ a b c d e f g h i j k l m "Three M Syndrome" . DoveMed . November 8, 2016 .

CCDC8, CUL7, OBSL1, KLC4, BMP2, IGF1, IGFBP2, IGFBP5, UROD, ANKRA2, RFX7
- 3m Syndrome Orphanet
  
  A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. Epidemiology Approximately 200 cases have been reported to date and the condition is rare. However, the phenotype is likely under-recognized. Clinical description Infants present with severe prenatal and postnatal growth retardation, birth weight usually at or below the 2nd centile. Growth impairment is greater in those with CUL7 variants. The head circumference is relatively large. Characteristic facial features include: triangular-shaped face, pointed chin, frontal bossing, hypoplastic midface, fleshy, upturned nose , prominent mouth and lips.
- Three M Syndrome Gene_reviews
  
  Summary Clinical characteristics. Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias. Diagnosis/testing. The diagnosis of three M syndrome is established in a proband with characteristic clinical and radiographic features. Identification of biallelic pathogenic variants in CCDC8 , CUL7 , or OBSL1 can establish the diagnosis if clinical and radiographic features are inconclusive.
Carotid Artery Stenosis Wikipedia

Retrieved 29 May 2019 . ^ Easton, J. D.; Saver, J. L.; Albers, G. W.; Alberts, M. J.; Chaturvedi, S.; Feldmann, E.; et al. (2009).

APOE, SPP1, TNFRSF11B, CLEC11A, CXCL9, TLR2, VCAM1, CNP, TLR4, MFN2, IL4, PROCR, LMNA, ZMPSTE24, YY1AP1, ABCA1, MMP9, BCAR1, TMX2-CTNND1, CRP, CSE1L, CTNND1, ACE, HABP2, VWF, LPA, CREST2, LCN2, MTHFR, LPL, MMP2, PLA2G7, ST8SIA4, SLC26A4, TNF, MPZL2, PON1, PPIA, RARRES2, REN, TIMP1, IL6, HSPA2, SMUG1, F3, THBD, HSPA1B, SACM1L, HSPA1A, CD14, PCSK9, SLC39A2, TM7SF2, IL17D, ADAM22, CERNA3, TREM2, MIR638, TREM1, IL27, DHX40, TLN1, TIMP4, SHOC1, CDKN2B-AS1, COPD, VDR, VEGFA, SETD2, CXCR4, PADI4, AGR2, PPIG, MIR330, ADIPOQ, MIR145, ADAMTS4, RSS, MDC1, C11orf96, IL18BP, BPIFB4, P2RY1, TGFB1, SORL1, FCGR3A, FBN2, FABP2, FABP4, F5, F2, ETS1, EGF, CYP2C19, CCR5, CLU, CHIT1, CD74, CD68, CAD, VPS51, TSPO, FASLG, APOB, ANXA1, ANGPT2, ANGPT1, ADAM8, FCGR3B, GABPA, HIF1A, MT2A, SOD3, SMS, LGMN, PROC, PCYT1A, SERPINE1, ACTB, NUCB2, NPY, NFE2L2, MMP12, HMOX1, MMP3, MMP1, MAS1, LIPC, LEP, ITGB3, IL18, IL10, IGF1, HP, RN7SL263P
Perry Syndrome Gene_reviews

"Perry syndrome" has appeared in the literature since 2002 [Elibol et al 2002]; it is named after Professor Thomas L Perry, who reported the first Canadian family with this disease.

DCTN1, TARDBP, CAP1, LNPEP, BRD4, SERPINB6, CTAA1, SORBS1, HACD1, CD40, SLC36A1, ASCC1, TH, ARHGEF7, SNCA, SLC11A2, NFKB1, HCRT, H3P40
- Perry Syndrome Omim
  
  A number sign (#) is used with this entry because Perry syndrome is caused by heterozygous mutation in the DCTN1 gene (601143) on chromosome 2p13. Description Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (Perry et al., 1975). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., 600274) and progressive supranuclear palsy (PSP; 601104). There is intrafamilial variation in the manifestations of the disorder (summary by Caroppo et al., 2014; review by Wider et al., 2010). Mutation in the DCTN1 gene can also cause distal motor neuronopathy type VIIB (HMN7B; 607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see 105400).
- Perry Syndrome Medlineplus
  
  Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties. Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behavior.
- Perry Syndrome Orphanet
  
  A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. Epidemiology The prevalence is unknown. It has been described in 53 cases from 11 families to date in Canada, U.S., U.K., France, Turkey and Japan. Clinical description Perry syndrome has a mean age of onset of 48 years (range 35-61) and presents with parkinsonism (akinetic-rigid and rather symmetric), psychiatric changes manifesting as depression, lethargy, withdrawal, apathy, and changes in character, as well as sleep difficulties. The usual duration of Perry syndrome is about 5 years, with severe weight loss and central hypoventilation being seen late in the disease course. Marked autonomic dysfunction was reported in one family from Japan. Patients are often bedridden or wheelchair bound as motor impairment may be severe at a later stage of the disease.
Mouse Model Of Colorectal And Intestinal Cancer Wikipedia

. ^ Maltzman T, Whittington J, Driggers L, Stephens J, Ahnen D (1997). "AOM-induced mouse colon tumors do not express full-length APC protein" .
Proteinuria Wikipedia

Archived from the original on May 15, 2018. ^ a b c d e f g h i j k l "Urine Protein" . Lab Tests Online .

LMX1B, TGFB1, HAVCR1, AGTR1, NPHS1, INF2, TRPC6, MYH9, APOE, SPP1, COL4A5, HLA-DRB1, PAK2, PTGS2, REN, DPP4, SCNN1A, PPARA, POMC, CYBB, PAK1, NCK1, MPV17, LEP, LAMB2, IL1RN, IFNG, GUSB, CFH, HLA-B, NR4A1, DNASE1, HLA-DQA1, CTSL, AGT, MUC16, CTSB, ALB, ALOX5AP, SOD1, VEGFA, FAS, RHOA, CLCN5, NPHS2, NCK2, CXCL10, SORCS1, NCKAP5, TMEM163, ICAM1, LEPR, NCF2, MGAT5, RAB38, OPTN, CD55, C6, SERPINA1, VTN, CLU, SNRPD1, SLC9A1, SDC1, ACE, NPPB, ACTN4, HMOX1, PSTPIP1, SNAP29, GTF2IRD1, LPIN2, MAGI2, MAFB, AMMECR1, C3, SLC35A1, CORIN, WDR4, ADAMTS13, TREX1, FASTKD2, FAN1, KIF1B, NUP160, CD2AP, SLC7A7, BAZ1B, C1R, SGPL1, COL4A4, COL4A3, VHL, CLCNKB, CLIP2, WT1, ZAP70, TRIM25, ERCC8, CUBN, LAGE3, SLC25A11, SCARB2, OFD1, ITGA8, DGKE, APOL1, KCNE5, KANK2, COX6B1, CFB, NUP85, COQ8B, B2M, AMN, SLITRK6, COA8, LMNB2, WDR73, COX14, ATP7B, TP53RK, ARHGDIA, COX20, STOX1, APOA1, MFF-DT, PET100, VPS33A, WDR19, SH2B1, NUP107, MMACHC, PTPN22, TBL2, C1QA, SMARCAL1, TPRKB, COQ6, PLCE1, TACO1, ANLN, TBC1D8B, SARS2, SDHAF2, OSGEP, TMEM127, NUP133, PDSS2, HLA-DPB1, THBD, TRNS2, MDH2, G6PC, COX1, COX2, COX3, ND1, ND4, ND5, ND6, TRNE, TRNF, TRNH, TRNK, TRNL1, TRNN, TRNQ, TRNS1, HNF1B, MEFV, CD46, FN1, MAX, HNF4A, HLA-DPA1, CFI, GTF2I, GSN, GLA, INSR, IRAK1, ITGA3, GDNF, LCAT, GBA, GATA3, LIMK1, SLC37A4, LRP2, LYZ, TRNW, HELLPAR, MYO1E, SDHA, PTPRO, EHHADH, RET, RFC2, SAA1, DNASE1L3, SCO1, DLST, SDHB, PRTN3, SDHC, SDHD, CTNS, SLC12A3, CTLA4, COX10, COX8A, STAT4, FLT1, ELN, PRODH, ACSL4, FOXC2, NEU1, NOS3, NOTCH2, FH, OCRL, PRDX1, ERCC4, FGA, PAX2, PMM2, ERCC6, HPSE, F3, ADIPOQ, ADM, ACKR1, NR3C2, HPSE2, HP, ACE2, TFPI
Interstitial Lung Disease Wikipedia

PMC 6802853 . PMID 30707039 . ^ Dowman L, Hill CJ, Holland AE (October 2014).

SFTPC, COPA, FARSB, SOD2, IL18, IL1A, CCL2, MUC5B, SFTPB, HLA-DRB1, ITGA3, STING1, MUC2, NKX2-1, MARS1, TRIM21, ZKSCAN1, WNT3, AP3D1, NSF, SMPD1, SFTPD, AKAP13, MUC1, MAPT, IVD, FAM13A, CTNNA3, ATP11A, LINC02210, LINC02210-CRHR1, TSBP1-AS1, MAPT-AS1, ADAMTS7P4, KRTAP5-4, KANSL1, COPD, RNF168, SPPL2C, LRRC34, DPP9, ERF, DISP2, ACTRT3, STN1, DEPTOR, CSMD1, IFIH1, INPP5E, BTNL2, MYNN, TOLLIP, GBA, ABCA3, LINC02689, SCARB2, DSP, EGFR, CRP, TNF, ALK, PLF, RGS6, CHI3L1, RASA1, SLC27A5, DCPS, CEL, SLURP1, RIEG2, PRTN3, PARP9, RBM45, CCL18, TGFB1, SMUG1, TRIM33, PAH, MORC3, IFNG, MMP7, PADI4, PROS2P, IL17A, SFTPA1, CXCL8, IL2, CD274, IL1B, ADAM17, TERT, CSF2, TNFSF13B, ACR, SFTPA2, CYCS, KRT20, FLI1, PADI3, WNT5A, BLK, CABIN1, ABCA4, TP53, CXCL13, CAV1, FLNA, HARS1, FEV, GPT, TFF1, CRYGD, IL33, MS4A1, CX3CL1, HARS2, ROS1, CXCL10, CDC42EP1, PLEKHM3, HSPA4, ALB, IFNA1, IFNA13, IGF1, BTG3, IL4, IL6, IL10, IRF5, CNTRL, COX8A, AP3B1, LOXL2, TRBV28, TRBV20-1, CXCR6, PSS, MPC1, CD226, ACTB, SCLY, CD40LG, PADI2, SEC14L2, LILRB1, FOXP3, CD53, ERVK-12, IL17RA, PRPF31, ADH5, ERVK-11, CNMD, ERVK-2, BRD4, TRBV3-1, HPGDS, WDHD1, ERVK-22, PSIP1, BICD2, MIR7-1, TLR9, AQP4, HPS4, BCL2, BPIFB1, PIK3IP1, FOXP4, PGA3, C11orf40, IL34, ATF3, AKT1, CD22, SPAAR, FAS, AIRE, MIR7-3, GLIS3, ALOX5AP, ALOX5, MIR7-2, MIR200C, TSLP, BDNF, NT5C1A, SLA2, ADM, BANK1, RNPC3, CD19, CD14, MIR214, NCF1, CXCL16, ACE2, NOD2, CANX, CALR, PINK1, FSD1, KLF5, SLC2A10, MAP1LC3B, PGA4, FSD1L, POSTN, ETS1, YAP1, DNASE1L3, IL1RN, IL15, EGF, ITGAE, ITGAM, SLC26A3, KIT, KRT7, KRT14, LGALS1, LYZ, CYP2B6, NTF3, MATN1, MMP1, MMP9, MPO, MRC1, MSN, MST1, CX3CR1, CTNNB1, MUC5AC, NARS1, IDUA, ICAM2, ICAM1, HSPG2, FCER2, FCGR2B, FCN2, FGF2, FOXF1, FOLR2, FOSL2, ELN, GH1, GLRX, GPR15, GSTM1, HCRT, HDAC2, HGF, HLA-B, HLA-DPB1, EIF2B1, HLA-DRB5, HPS1, HSPA1A, HSPA1B, HSP90AA1, CCN2, PDGFA, TRAIP, EIF2B4, VCAM1, VEGFA, EZR, VTN, VWF, CCR3, FBN1, CXCR4, HMGA2, SEMA7A, FCN3, EIF2B2, PGA5, EIF2S2, LRRFIP1, CD163, PPIG, COX5A, NTN1, ITM2B, CXCL14, CCS, CENPB, PLXNC1, TTF1, TNFRSF1B, TNFRSF1A, COL4A5, PLG, SERPINF2, PSMB2, PTPRC, BRD2, S100A9, SAFB, CSF2RA, CCL3, CCL5, CCL17, CCL21, SELPLG, CPOX, SNRNP70, SPP1, SSTR2, STAT3, STAT4, TAL1, TRB, TGFA, TGFBR1, CHIT1
- Interstitial Lung Disease Mayo_clinic
  
  Overview Interstitial (in-tur-STISH-ul) lung disease describes a large group of disorders, most of which cause progressive scarring of lung tissue. The scarring associated with interstitial lung disease eventually affects your ability to breathe and get enough oxygen into your bloodstream. Interstitial lung disease can be caused by long-term exposure to hazardous materials, such as asbestos. Some types of autoimmune diseases, such as rheumatoid arthritis, also can cause interstitial lung disease. In some cases, however, the causes remain unknown. Once lung scarring occurs, it's generally irreversible.
Repetitive Strain Injury Wikipedia

PMID 7670905 . ^ Del Buono, A.; Battery, L.; Denaro, V.; MacCauro, G.; Maffulli, N. (2011).

POSTN, ACLY, SDC1, TAC1, SIK1, SIK1B