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  • Mirror Movements 3 Omim
    Molecular Genetics In affected members of a consanguineous Pakistani family with congenital mirror movements, Ahmed et al. (2014) identified a homozygous splice site mutation in the DNAL4 gene (610565.0001), resulting in the in-frame deletion of 28 conserved residues. The mutation was found by a combination of homozygosity mapping and whole-exome sequencing.
    DNAL4, SUN2
  • Quadriga Phenomenon Wikipedia
    "The quadriga effect revisited: Designing a "safety incision" to prevent tendon repair rupture and gap formation in a canine model in vitro" . Journal of Orthopaedic Research . 28 (11): 1482–1489. doi : 10.1002/jor.21168 .
  • Premature Ovarian Failure 11 Omim
    Clinical Features Qin et al. (2015) studied a Han Chinese family in which 4 women over 2 generations experienced secondary amenorrhea. The proband was a 28-year-old woman who experienced secondary amenorrhea at age 23 and had serum FSH levels exceeding 40 IU/L.
    ERCC6
  • Heterotaxy, Visceral, 3, Autosomal Omim
    Clinical Features Peeters et al. (2001) reported a patient in whom routine ultrasound examination at gestational age 28 weeks had shown atrioventricular septal defect and abdominal situs inversus.
    ACVR2B, MMP21, ZIC3, LEFTY2, NODAL, GDF1, CRELD1, TDGF1, CFC1, DNAH11, TBC1D32, BICC1, WDR62, ANKS6, C1orf127, DNAAF3, DRC1, TMEM67, C2orf74, CEP290, IFT74, CCDC39, CC2D2A, CPLANE2, AP1B1, ARMC4, DNAI1, SLIT2, FOXH1, RFX3, PCSK5, MEGF8, DNAH5, CFC1B, CERS1, SHROOM3, EVC2, CFAP53, KCNE1
    • Heterotaxy, Visceral, 5, Autosomal Omim
      A number sign (#) is used with this entry because visceral heterotaxy-5 (HTX5) is caused by heterozygous mutation in the NODAL gene (601265) on chromosome 10q22. Description Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Zlotogora et al. (1987) described a family in which 4 out of 7 children had situs inversus and/or congenital heart disease; more specifically, 3 had situs inversus with a normal heart in one and 3 had heart defects with normal organ orientation in one.
    • Heterotaxy, Visceral, 6, Autosomal Omim
      A number sign (#) is used with this entry because of evidence that autosomal visceral heterotaxy-6 (HTX6) is caused by homozygous mutation in the CCDC11 gene (614759) on chromosome 18q21. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Perles et al. (2012) reported 2 brothers, born of consanguineous Arab-Muslim parents, with variable manifestations of visceral heterotaxy. The younger brother, aged 14 years, presented with congenital heart disease and severe cyanosis. Echocardiography showed a complex cardiovascular defect and abdominal situs abnormalities.
    • Heterotaxy, Visceral, 1, X-Linked Omim
      A number sign (#) is used with this entry because X-linked heterotaxy-1 (HTX1) and multiple types of congenital heart defects-1 (CHTD1) are caused by mutation in the ZIC3 gene (300265) on chromosome Xq26. Mutation in the ZIC3 gene can also cause VACTERL with or without hydrocephalus (VACTERLX; 314390), a disorder with overlapping features. Description Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births.
    • Heterotaxy, Visceral, 4, Autosomal Omim
      A number sign (#) is used with this entry because visceral heterotaxy-4 (HTX4) is caused by heterozygous mutation in the ACVR2B gene (602730). Description Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Kosaki et al. (1999) reported 3 unrelated patients with left-right axis malformations.
    • Heterotaxy, Visceral, 8, Autosomal Omim
      A number sign (#) is used with this entry because of evidence that autosomal visceral heterotaxy-8 (HTX8) is caused by homozygous mutation in the PKD1L1 gene (609721) on chromosome 7p12. Description Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Vetrini et al. (2016) reported 2 male infants, born of unrelated parents of northern European descent, with heterotaxy and complex congenital heart disease resulting in death shortly after birth and at age 3 weeks. In 1 infant, the abnormalities were apparent on prenatal ultrasound at 21 weeks' gestation.
    • Heterotaxy, Visceral, 7, Autosomal Omim
      A number sign (#) is used with this entry because of evidence that autosomal visceral heterotaxy-7 (HTX7) is caused by homozygous or compound heterozygous mutation in the MMP21 gene (608416) on chromosome 10q26. Description Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Perles et al. (2015) reported 3 sibs, born of consanguineous parents, with a congenital laterality disorder. One patient presented with cyanosis at age 3 months and was found to have dextrocardia with atrial situs inversus, complete atrioventricular canal defect, transposition of the great arteries (TGA) and pulmonary atresia with a duct-like aortopulmonary collateral.
    • Laterality Defects, Autosomal Dominant Omim
      Clinical Features Heterotaxy results from failure to establish normal left-right (L-R) asymmetry during embryonic development. Other than X-linked visceral heterotaxy (306955), most familial cases are thought to be autosomal recessive. Casey et al. (1996) identified a family in which 4 individuals from 3 generations showed laterality defects. Two had complete reversal of normal laterality (situs inversus) (270100), while 2 others had asplenia, midline liver, and complex cardiac malformations (situs ambiguus). Two obligate gene carriers were anatomically normal (situs solitus). Male-to-male transmission confirmed autosomal inheritance.
    • Heterotaxia Orphanet
      Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete ( situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located). Epidemiology The incidence of all lateralization defects is approximately 1/15 000. Clinical description The severity of malformations is highly variable among members of a family. Complete situs inversus is not, in itself, a problem. On the contrary, partial situs inversus can be associated with any type of cardiac malformation, as well as renal, biliary, midline anomalies, etc .
    • Heterotaxy, Visceral, 2, Autosomal Omim
      A number sign (#) is used with this entry because of evidence that visceral heterotaxy-2 (HTX2) is caused by heterozygous mutation in the CFC1 gene (605194) on chromosome 2q21. Description Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). Clinical Features Bamford et al. (2000) reported 3 unrelated patients with laterality defects.
  • Pseudopolyps Wikipedia
    "Localised giant pseudopolyposis secondary to ulcerative or granulomatous colitis". Clinical Radiology . 28 (6): 609–16. doi : 10.1016/s0009-9260(77)80038-x .
    HRAS, GREM1, MIR126
  • Acute Oak Decline Wikipedia
    Retrieved 2009-09-26 . ^ Kinver, Mark (28 April 2010). "Oak disease 'threatens landscape ' " .
  • Black Gill Disease Wikipedia
    Association of Southeast Asian Nations . Retrieved 28 April 2016 . This article about a disease , disorder, or medical condition is a stub .
  • Birt-Hogg-Dube Syndrome Omim
    Thirteen patients with fibrofolliculomas and trichodiscomas presented clinically with multiple smooth skin-colored to grayish-white papules located on the face, auricles, neck, and upper trunk. Oral papules were present in 9 of 28 and acrochordons in 11 of 28 patients. Features of BHD not previously appreciated included deforming lipomas in 5, collagenomas in 4, and pulmonary cysts in 4 of 28 patients. Families with BHD did not display germline mutations in the von Hippel-Lindau gene (608537) or in the tyrosine kinase domain of the MET protooncogene (164860), which are known to be associated with renal neoplasms. ... Eighteen (58%) of 31 individuals with a family history of pneumothorax developed pneumothoraces compared to 16 (28%) of 57 individuals without family history (p = 0.011).
    FLCN, MPRIP, BHD, MET, MTOR, CXCR3, HIF1A, KRT7, TSC1, TSC2, VEGFA, FNIP2, CCM2, SSH2, FNIP1, COPD
    • Birt-Hogg-Dubé Syndrome Gene_reviews
      Summary Clinical characteristics. The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types.
    • Birt-Hogg-Dubé Syndrome Orphanet
      Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. Epidemiology The prevalence of BHD is estimated at 1/200,000 but the exact incidence is unknown. There have been more than 100 families affected by BHD. Clinical description The kidney tumors in BHD patients range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Hybrid tumors may also sometimes develop in the kidney of a BHD patient.
    • Birt-Hogg-Dubé Syndrome Medlineplus
      Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors.
    • Birt–hogg–dubé Syndrome Wikipedia
      These lesions are usually found in the armpit , on the eyelids , and in folds of skin. [3] Not all individuals develop the facial tumors; some families with the mutation that causes BHD develop only kidney tumors or spontaneous pneumothorax. [5] Kidneys [ edit ] A H&E stain of tissue from a chromophobe renal cell carcinoma, the second most common cancer associated with BHD People over 20 years of age with Birt–Hogg–Dubé syndrome have an increased risk of developing slow-growing kidney tumors ( chromophobe renal carcinoma and renal oncocytoma , respectively), kidney cysts , and possibly tumors in other organs and tissues. [2] These tumors often occur in both kidneys and in multiple locations in each kidney. [5] The average number of kidney tumors found in a person with BHD is 5.3, though up to 28 tumors have been found. [7] Hybrid oncocytoma/chromophobe carcinoma, found in 50% of cases, [8] is the most commonly found cancer, followed by chromophobe renal carcinoma, clear cell renal carcinoma, renal oncocytoma, and papillary renal cell carcinoma . [5] [8] People over 40 years old and men are more likely to develop kidney tumors, which are diagnosed at a median age of 48. [2] [5] Kidney cancer associated with BHD have been diagnosed in people at ages as young as 20. [6] In general, people with Birt–Hogg–Dubé syndrome are at roughly seven times the risk of kidney cancer compared to the unaffected population. ... They had a similar pattern of tumorigenesis to human BHD in that the skin lesions were heterozygous for the FLCN mutation and the renal tumors were likely caused by loss of heterozygosity. [6] Female German shepherds with a FLCN mutation are also prone to uterine leiomyomas . [3] A homolog of FLCN called DBHD has been discovered in the common fruit fly, Drosophila melanogaster . [26] [3] Decrease expression of the DBHD results in loss of male germline stem cells (GSC), which suggest that DBHD is required for male GSC maintenance in the fly testis. [27] Further, DBHD regulates GSC maintenance downstream or in parallel of the JAK/STAT and Dpp signal-transduction pathways, which suggest that BHD regulates tumorigenesis by controlling stem cells in human { [28] Singh et al. 2006} A line of rats with hereditary kidney cancer were developed by Japanese researchers.
    • Birt-Hogg-Dube Syndrome Gard
      Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan . While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
  • Da Costa's Syndrome Wikipedia
    National Organization for Rare Disorders, Inc. 2005 . Retrieved 2008-05-28 . ^ Paul Wood, MD (1941-05-24). "Da Costa's Syndrome (or Effort Syndrome). ... PMC 2161922 . PMID 20783672 . Retrieved 2008-05-28 . ^ Cohen ME, White PD (November 1, 1951). ... Psychosomatic Medicine . 13 (6): 335–57. doi : 10.1097/00006842-195111000-00001 . PMID 14892184 . Retrieved 2008-05-28 . ^ a b Paul O (1987). "Da Costa's syndrome or neurocirculatory asthenia" .
    SLC6A2
  • Bronchopulmonary Dysplasia Wikipedia
    It develops most commonly in the first 4 weeks after birth. [ citation needed ] Diagnosis [ edit ] Earlier criteria [ edit ] The classic diagnosis of BPD may be assigned at 28 days of life if the following criteria are met: [ citation needed ] Positive pressure ventilation during the first 2 weeks of life for a minimum of 3 days. ... Requirements for supplemental oxygen for longer than 28 days of age to maintain PaO2 above 50 mm Hg. ... Newer criteria [ edit ] The newer National Institute of Health (US) criteria for BPD (for neonates treated with more than 21% oxygen for at least 28 days) [7] is as follows:, [8] [9] Mild Breathing room air at 36 weeks' post-menstrual age or discharge (whichever comes first) for babies born before 32 weeks, or breathing room air by 56 days' postnatal age, or discharge (whichever comes first) for babies born after 32 weeks' gestation.
    IL1B, TXN, POSTN, HIF1A, CAT, EPAS1, EDN1, CASP9, CASP8, CASP3, BID, BAX, CXCL1, TP53, SPOCK2, NBL1, CTNNA3, AGBL1, IL6, BDNF, VEGFA, IL1RAPL1, AGBL1-AS1, TGFB1, DMD, MICOS10-NBL1, ACE, NFE2L2, TNF, ACTB, FGF10, SLC6A4, SFTPB, ANK3, PPARG, ERBB4, OPN1LW, CCN2, COMT, IL10, IL1A, FN1, HMOX1, SFTPA1, SFTPD, AHR, IL1RN, ELN, TIMP1, FGF7, GABPA, MMP9, CYP1A1, GAD1, EPO, GSTT1, GSTM1, NOS3, DISC1, CTNNB1, SFTPC, P2RX7, REN, SOD3, CXCL12, SCGB1A1, CACNA1C, P2RX5, TNFAIP6, IL18, IL17A, TGM2, HPGDS, SGSM3, SELL, TGFA, SLC6A3, CCL2, SOD2, IGF1, IFNG, TNC, TLR4, NRG1, HDAC2, TXNRD1, TPH1, CCL24, KDR, P2RX4, MMP2, P2RX3, P2RX1, NR3C1, P2RY1, P2RY2, PC, PDGFRA, MTHFR, COX2, PDGFRB, POMC, BRD1, MSC, P2RX6, MBL2, LOX, PTGS2, LLGL1, TIMP2, P2RX2, PRPH2, SIRT1, TST, TLR5, ZNF804A, NQO1, MIR34A, NPSR1, FGFR2, MIR17HG, FKBP5, TPH2, ELANE, CRISPLD2, GABRB2, DGKH, DPYSL2, DNMT1, MIR206, SFTPA2, CHRNA7, AKT1, GRK3, CTSG, CRP, CENPJ, CRHR1, P2RX5-TAX1BP3, DDIT3, NLRP3, MIR21, AIMP1, MIR29B2, CLOCK, MIR29B1, ARHGEF7, MIR17, ZBED4, CDK2AP2, IL18BP, MIR30A, PLOD3, MIR219A1, FHL5, MIRLET7C, IPO13, LPAR2, LRPPRC, VAPA, MIR214, SYBU, SYNJ1, SOD2-OT1, WASH6P, SUMO1, MIR421, ZGLP1, MIR876, TRAF1, TAF9BP2, PER2, WASHC1, LINC01672, RN7SL263P, TSPAN8, MTCO2P12, H3P8, VASP, VDR, POTEM, MIR489, MIR431, XBP1, CXCR4, SLC14A2, BDNF-AS, PLF, MIR335, MAD1L1, POTEKP, MDD1, PLA2G10, IL18R1, CCN5, TLR6, GPNMB, CEP85L, IL33, LAMTOR2, MAP1LC3B, LMAN2L, EHMT1, MCPH1, ZDHHC8, MPPE1, F11R, SHANK1, ASCC1, ADIPOR1, RMDN1, PINK1, LEF1, CLDN18, ETNPPL, NPAS3, NIF3L1, MZB1, NRN1, PTBP2, SF3B6, ZNF410, TREM1, DLL4, UGT1A1, ACKR3, DYM, RMDN3, MIXL1, ESAM, MALAT1, BOC, GSTK1, ACTBL2, CACNG2, CHDH, CAP2, PDLIM5, HCA1, CXCR6, PDE10A, SUB1, KANK4, EML5, RAB40B, RIPK3, RMDN2, RPP14, SLCO6A1, ACOT7, SHANK2, SCGB3A2, TIRAP, SYNE1, DDAH2, DDAH1, IL17F, CACNA2D4, EML2, TENM4, INTU, SERPINA3, MAPK3, TLR2, TIMP3, FOXF2, FOXF1, FGFR4, F3, F2RL1, EZH2, ETS1, EPHA1, ENG, SERPINB1, EGFR, EDNRA, LPAR1, DUSP5, DUSP1, DRD4, DDT, FOXM1, FLNA, FPR1, GNAS, GRP, GRIK2, GRN, GPR42, MCHR1, UTS2R, GPC1, GLP1R, G6PD, GFAP, GDF2, GCH1, GCG, GC, GATA6, GAD2, DAG1, CYP2B6, CYP1B1, AGT, ATF4, ARG1, APOE, ANXA1, ANGPT1, ALB, AGTR1, ADRA2B, BMP7, ADRA1A, ADCYAP1, ADCY2, ADA, ACVRL1, ACTG2, ACTG1, BCL2, BMPR2, CSF3, CDKN2A, CRYZ, CRH, CMKLR1, CLU, CHRNA2, CHRM2, CFL1, CDKN1A, BPI, CD44, CD40, CD34, CAMK2A, CALB2, CACNA1E, BRS3, GSK3B, GSTA6P, GSTP1, RELN, SCN8A, SCN4B, S100A9, RARA, PVALB, PTBP1, PRTN3, PRSS2, CCL18, ABCA3, MAPK1, PLOD2, PLG, PLCG1, PLA2G2A, PFN1, CCL13, SELP, PCNA, SST, THY1, THBS1, TH, TAC1, VAMP7, STAT3, SSTR4, SOX4, SIPA1, SOD1, SUMO2, SMARCA4, SLC18A2, SLC18A1, SLC6A2, SLC1A2, PECAM1, SERPINE1, GSTZ1, ID2, KCNQ2, IRAK1, IMPA2, IL6ST, IL6R, IL4, CCN1, HTR2C, KIT, HTR2A, HTR1B, HTR1A, HSP90AA1, HMGB1, HLA-A, HDAC1, KCNQ3, LCT, OTSC1, MPO, NR4A2, CCN3, NOTCH3, NM, NGF, NFKBIA, NFKB1, MMP16, LDHA, KMT2A, MIF, LOXL2, LOXL1, FADS1, LGALS1, LEP, H3P40
    • Bronchopulmonary Dysplasia Orphanet
      Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
  • Rare Disease Wikipedia
    . ^ "02/2009: Rare Cancers on Rare Disease Day" . Ecpc-online.org. 28 February 2009. Archived from the original on 26 July 2011 . ... Retrieved 12 January 2021 . ^ "February 29th Is The First Rare Disease Day" . Medical News Today . 28 February 2008 . Retrieved 14 February 2009 . ^ "Join Us In Observing Rare Disease Day On Feb. 28, 2009!"
  • Supravalvular Aortic Stenosis Omim
    The breakpoint was localized to exon 28 of the gene. Combined with studies indicating linkage of SVAS to the elastin gene (Ewart et al., 1993), the data suggested that mutations in the elastin gene are the cause of SVAS. ... Cytogenetics Morris et al. (1993) reported on the family in which SVAS cosegregated with a familial 6;7 translocation that disrupted the elastin gene at exon 28 (Curran et al., 1993). They pointed out that main pulmonary artery hypoplasia, preductal coarctation of the aorta, and pulmonic stenosis are frequently noted in patients with deletions involving the 7q11 region. ... Molecular Genetics In a family with SVAS, Ewart et al. (1994) found a heterozygous 100-kb deletion in the 3-prime end of the elastin gene with a breakpoint between elastin exons 27 and 28. The same region was disrupted in the familial reciprocal translocation reported by Morris et al. (1993).
    ELN, CASQ2, GTF2IRD1, APOB, BAZ1B, PCSK9, ABCG8, ABCG5, MLXIPL, TBL2, LDLRAP1, FBLN5, CLIP2, RFC2, PTPN11, LIMK1, LDLR, GTF2I, ELN-AS1, FBN1, PDLIM1, CALCA, ITGB3
    • Supravalvular Aortic Stenosis Medlineplus
      Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery ). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam.
    • Supravalvular Aortic Stenosis Orphanet
      A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement). Epidemiology The incidence of supravalvular aortic stenosis (SVAS) is estimated at approximately 1 in 25 000 births and the mean prevalence in the general population at 1/7 500. Clinical description Clinical manifestations of SVAS include ejection systolic murmur and, in some cases, symptoms of chest pain or syncope. The electrocardiogram may indicate signs of a repolarisation disorder at rest and/or signs of ischemia after a stress test.
    • Supravalvular Aortic Stenosis Gard
      Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery.
  • Drug Metabolism, Poor, Cyp2c19-Related Omim
    Inheritance Kupfer and Preisig (1984) presented evidence that deficient capacity to hydroxylate mephenytoin is autosomal recessive and independent of the debrisoquine 4-hydroxylation defect (608902). By studies of 28 relatives of 5 poor metabolizers, Inaba et al. (1986) confirmed the autosomal recessive inheritance of deficient mephenytoin hydroxylation. ... Omeprazole is frequently used as part of a combination regimen to eliminate Helicobacter pylori in patients with peptic ulcer disease, and the rate of response is dependent on the CYP2C19 genotype, ranging from 28% in patients who are homozygous for the extensive metabolism allele to 100% in those with poor metabolism (Furuta et al., 1998).
    • Clopidogrel Resistance Medlineplus
      Clopidogrel resistance is a condition in which the drug clopidogrel is less effective than normal in people who are treated with it. Clopidogrel (also known as Plavix) is an antiplatelet drug, which means that it prevents blood cells called platelets from sticking together (aggregating) and forming blood clots . This drug is typically given to prevent blood clot formation in individuals with a history of stroke ; heart attack; a blood clot in the deep veins of the arms or legs (deep vein thrombosis ); or plaque buildup (atherosclerosis ) in the blood vessels leading from the heart, which are opened by placement of a small thin tube (stent). People with clopidogrel resistance who receive clopidogrel are at risk of serious, sometimes fatal, complications. These individuals may have another heart attack or stroke caused by abnormal blood clot formation; those with stents can develop blood clots (thromboses) within the stents, impeding blood flow.
  • Kniest Dysplasia Omim
    The patient described by Winterpacht et al. (1993) had a 28-bp deletion involving exon 12 and intron 12 in the COL2A1 gene (120140.0012). ... Sequencing of the genomic DNA in each index patient identified 4 new dominant mutations in COL2A1 that resulted in Kniest dysplasia: a 21-bp deletion in exon 16, an 18-bp deletion in exon 19, and 4-bp deletions in the splice donor sites of introns 14 and 20. A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth patient.
    COL2A1, SULT2A1, ZAP70, SEMA3A
    • Collagen, Type Ii, Alpha-1 Omim
      All 4 new mutations were also small deletions; a fifth patient was found to have a previously reported 28-bp deletion (120140.0012). COL2A1 has 10 in-frame CGA codons that can mutate to TGA stop codons by a methylation-deamination mechanism.
    • Kniest Dysplasia Wikipedia
      The patient also had short stature and later developed blindness, resulting from retinal detachment and glaucoma. [3] Upon analysis of the patient's DNA in 1992, sequencing revealed deletion of a 28 base pair sequence encompassing a splice site in exon 12 and a G to A transition in exon 50 of the COL2A1 gene. [4] This condition is very rare and occurs less than 1 in 1,000,000 people.
    • Kniest Dysplasia Orphanet
      Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). Epidemiology Prevalence is unknown. Clinical description The disease is apparent from birth. Cleft palate (sometimes associated with Pierre-Robin syndrome, see this term), kyphoscoliosis, premature osteoarthritis, severe myopia and deafness are common findings. Stature varies but is often severely affected. Intelligence is usually normal. Etiology The disease is caused by mutations in the COL2A1 gene (12q13.11-q13.2) encoding type II collagen.
    • Kniest Dysplasia Medlineplus
      Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis ), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot ). Individuals with Kniest dysplasia have a round , flat face with bulging and wide-set eyes .
    • Kniest Dysplasia Gard
      Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
  • T-Shaped Uterus Wikipedia
    "The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies" . Hum Reprod . 28 (8): 2032–44. doi : 10.1093/humrep/det098 . ... "Imaging diagnosis of congenital uterine malformation". Comput Med Imaging Graph . 28 (7): 425–33. doi : 10.1016/j.compmedimag.2004.05.008 .
  • Photopsia Wikipedia
    . ^ "Photopsia – What Are They and What Causes Them?" . Healthline . Retrieved 2019-08-28 . ^ Morrow, Nicole C.; Chung, Anthony T.; Wall, Michael. ... Retrieved 20 June 2020 . ^ "Punctate inner choroidopathy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 2019-08-28 . Amos JF (1999). "Differential diagnosis of common etiologies of photopsia".
    GNA11, BAP1, ARHGEF18, SF3B1, CYSLTR2, GNAQ, ERG, SMIM10L2B, SMIM10L2A, SGSM3, TNF, ITSN2, BFAR, EBPL, OPN4, VTI1B, NR1H4, CLOCK, VWF, ADRB2, SFSWAP, AMD1, PLXNA2, IDS, CFH, GUCY2D, GYPA, ELK3, CYP2C19, CRYGD, CRP, CACNA1F, ARNTL, AMD1P2, PRL
  • Drug-Induced Amnesia Wikipedia
    . ^ "NIMH » Memory-sustaining Enzyme May Help Treat PTSD, Cognitive Decline" . www.nimh.nih.gov . Retrieved 2016-12-28 . ^ "Scientists raise new questions on molecular key to memory" . Ars Technica . Retrieved 2016-12-28 . ^ πένθος . Liddell, Henry George ; Scott, Robert ; A Greek–English Lexicon at the Perseus Project . ^ Homer ; Murray, A.T.
  • Conjunctivochalasis Wikipedia
    Ophthalmic Plastic and Reconstructive Surgery 1986;2:25-28 ^ Fodor E, Barabino S, Montaldo E, Mingari MC, Rolando M. ... Elevated tear Interleukin-6 and Interleukin-8 in patients with Conjunctivochalasis Cornea. 2009 Feb;28(2):189-93. ^ [ Bruce A., Loughnan M.(2003) Anterior Eye and Therapeutics A-Z.
    MMP1, MMP3, MMP9, TIMP1, IL1B, MMP2, TIMP3, TNF, FBLN5
  • Rapp-Hodgkin Syndrome Omim
    In a 42-year-old woman and her mother, who had Rapp-Hodgkin syndrome associated with Groenouw-type corneal dystrophy (see 121900) and premature menopause at ages 28 and 35 years, respectively, Holder-Espinasse et al. (2007) identified heterozygosity for a 1-bp deletion in the TP63 gene (603273.0025). The affected maternal grandmother had premature menopause at 28 years of age, and an affected deceased older sister also had Groenouw-type corneal dystrophy.
    IRF6, MSX1, TP63, NECTIN1, CDH1, BMP4, DLX4, ARHGAP29, DLG1, CALML3, COTL1, TERT, TGFA, CLPTM1L, CSRP3, MTHFR, PHF8, RPE65, CKAP4, UVRAG, TGFB3, SUMO1, PART1, CHD7, PTCH1, TIMP2, FGFR1, MTR, MAFB, MMP3, NAT2, WNT9B, NAT1, TBX22, BHMT, CBS, HFM, BMP2, SYNJ2, IFT88, KISS1R, WNT3A, KLF17, PGAP2, ARTN, WNT5A, WNT3, B3GLCT, PRSS35, MIR494, TPM1, CPO, KLF4, RAB34, TINAGL1, ACSS2, GTPBP4, RIC1, SHTN1, GRHL3, VAX1, CAMKMT, SNAP91, POMT1, ADAMTS20, SAE1, WNT10A, DNAJC5, NECTIN4, BHMT2, RARA, TGFB1, SPP1, FGF10, FGF9, FGF8, FGF3, FGF2, STOM, DMD, DLX1, DEFB1, DCN, CLPTM1, CDH2, KRIT1, CALM3, CALM2, CALM1, BCL3, ARSD, AGRP, AFP, ABCA4, FGFR2, FOXE1, FLG, NME1, SPINK1, SPARC, SLC19A1, RYK, RAD51C, PCNA, PAX7, PAX3, NME2, NHLH1, FN1, MYH9, MTRR, MTHFD1, MMP13, MMP1, MID1, HTC2, GNRHR, GABRB3, CBSL
    • Orofacial Cleft 3 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530. Mapping Stein et al. (1995) tested linkage of 22 candidate genes to CL/P in 11 multigenerational families, and excluded 21 of these candidates. APOC2 (608083), which is located at 19q13.1 (or 19q13.2) and which is linked to the protooncogene BCL3 (109560), gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all the families, using an anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2.
    • Orofacial Cleft 1 Omim
      Description Nonsyndromic cleft lip with or without cleft palate is a complex disease with a wide phenotypic spectrum ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate (summary by Neiswanger et al., 2007). Genetic Heterogeneity of Orofacial Cleft Isolated cleft lip with or without cleft palate (CL/P) is genetically heterogeneous. The OFC1 locus has been mapped to chromosome 6p24. Other CL/P loci have been mapped to 2p13 (OFC2; 602966), 19q13 (OFC3; 600757), 4q (OFC4; 608371), 13q33.1-q34 (OFC9; 610361), 8q24.3 (OFC12; 612858), and 1p33 (OFC13; 613857). OFC5 (608874) is caused by mutation in the MSX1 gene (142983) on 4p16; OFC6 (608864) is associated with variation in an enhancer of the IRF6 gene (607199) on 1q; OFC7 (see 225060) is associated with mutation in the NECTIN1 gene (600644) on 11q23; OFC8 (618149) is caused by mutation in the TP63 gene (603273) on 3q28; OFC10 (613705) is associated with haploinsufficiency of the SUMO1 gene (601912) on 2q33; OFC11 (600625) is caused by mutation in the BMP4 gene (112262) on 14q22; OFC14 (615892) is associated with a 273-kb deleted region on 1p31; and OFC15 (616788) is caused by mutation in the DLX4 gene (601911) on 17q21. A common polymorphism in the MTR gene (156570.0008) has been associated with susceptibility to orofacial clefting.
    • Orofacial Cleft 8 Omim
      A number sign (#) is used with this entry because of evidence that orofacial cleft-8 (OFC8) is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28. Clinical Features Leoyklang et al. (2006) reported a 4-year-old Thai girl with a surgically repaired bilateral complete cleft lip. Her parents were unaffected. Basha et al. (2018) reported a family (CLP-1055) in which the proband and his father had orofacial cleft. The son had a unilateral, right-sided cleft lip. He had no limb anomaly, no ectodermal dysplasia, and no cardiac malformations. Follow-up until the age of 3.5 years showed growth and development within normal limits.
    • Cleft Lip And Cleft Palate Wikipedia
      An adolescent with cleft lip or cleft palate will deal with the typical challenges faced by most of their peers including issues related to self-esteem, dating and social acceptance. [26] [27] [28] Adolescents, however, view appearance as the most important characteristic, above intelligence and humor. [29] This being the case, adolescents are susceptible to additional problems because they cannot hide their facial differences from their peers. Adolescent boys typically deal with issues relating to withdrawal, attention, thought, and internalizing problems, and may possibly develop anxiousness-depression and aggressive behaviors. [28] Adolescent girls are more likely to develop problems relating to self-concept and appearance. ... The Cleft Palate-Craniofacial Journal . 28 (4): 347–53. doi : 10.1597/1545-1569(1991)028<0347:SCOCAA>2.3.CO;2 . ... "Lifestyle values of adolescents: results from Minnesota Heart Health Youth Program". Adolescence . 28 (111): 637–47. PMID 8237549 . ^ Peterson-Falzone SJ, Trost-Cardamone JE, Karnell MP, Hardin-Jones MA (September 21, 2016).
    • Orofacial Cleft 4 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530. Mapping Using 13 microsatellite markers specific for 4q in a study of 7 of 8 persons with CL/P in a 5-generation family, Beiraghi et al. (1994) found evidence of linkage between the phenotype and 2 markers, D4S175 (maximum lod = 2.27 at theta = 0) and D4S192 (maximum lod = 1.93 at theta = 0). No linkage with markers on chromosome 6 was found in this family. In linkage studies of 36 multiplex Chinese families with CL/P, Marazita et al. (2002) found the highest multipoint heterogeneity lod score (2.5) at 4q with marker D4S1629 under a recessive inheritance model. In addition, there was a positive identity-by-descent result with D4S2361. Cytogenetics In a father and son with cleft lip, Beiraghi et al. (2003) identified a balanced pericentric inversion of chromosome 4, inv(4)(p13q21).
    • Orofacial Cleft 2 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530. Mapping Ardinger et al. (1989) observed a significant association between 2 RFLPs at the transforming growth factor-alpha (TGFA; 190170) locus on chromosome 2p13 and the occurrence of clefting. The authors suggested that either the TGFA gene or DNA sequences adjacent to the locus contribute to the development of some cases of cleft lip with or without cleft palate in humans. However, in a study of 7 families with CL/P segregating in a dominant manner, the TGFA haplotype associations reported by Ardinger et al. (1989) were not seen, and in 1 family clefting did not cosegregate with TGFA, thus ruling out tight linkage (Hecht et al. (1990, 1991)). In 96 unrelated patients with nonsyndromic CL/P, Chenevix-Trench et al. (1991) confirmed the existence of an excess frequency of the same TaqI allele found by Ardinger et al. (1989).
    • Orofacial Cleft 11 Omim
      A number sign (#) is used with this entry because of evidence that orofacial cleft-11 (OFC11) is caused by heterozygous mutation in the BMP4 gene (112262) on chromosome 14q22. For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530). Description Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). Clinical Features Castilla and Martinez-Frias (1995) presented 25 CHCL cases, 18 of which represented an isolated malformation found among the 3,950,715 births examined in 2 similar birth defect registries, 1 in Spain and 1 in Latin America.
    • Cleft Lip/palate-Ectodermal Dysplasia Syndrome Omim
      A number sign (#) is used with this entry because of evidence that cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) is caused by homozygous mutation in the PVRL1 gene (NECTIN1; 600644) on chromosome 11q23. Mutation in the PVRL1 gene has also been found in a form of orofacial cleft (OFC7). Clinical Features Zlotogora et al. (1987) reported 2 sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes. An older sib also had mental retardation and pili torti. The parents were consanguineous. In 2 Turkish sibs, products of a second-cousin marriage, Ogur and Yuksel (1988) found the combination of tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation.
    • Orofacial Cleft 10 Omim
      A number sign (#) is used with this entry because of evidence that orofacial cleft-10 (OFC10) is caused by mutation in the SUMO1 gene (601912) on chromosome 2q33. One such patient has been reported. For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530. Clinical Features Alkuraya et al. (2006) identified a 5-year-old Caucasian girl with a unilateral cleft lip and palate (primary and secondary) who was otherwise phenotypically normal. Her karyotype was 46,XX,t(2;8)(q33.1;q24.3), and array CGH analysis was normal. Molecular Genetics Alkuraya et al. (2006) showed that the balanced translocation in a girl with orofacial cleft disrupted the SUMO1 gene, leading to haploinsufficiency confirmed by RNA and protein studies (601912.0001).
    • Orofacial Cleft 15 Omim
      A number sign (#) is used with this entry because of evidence that orofacial cleft-15 (OFC15) is caused by mutation in the DLX4 gene (601911) on chromosome 17q21. One such family has been reported. For a discussion of genetic heterogeneity of nonsyndromic cleft/lip palate (CL/P), see OFC1 (119530). Clinical Features Wu et al. (2015) studied a Hispanic mother and son with bilateral cleft lip and palate and minor dysmorphic features. The mother had CL/P repaired in early childhood. On examination at 16 years of age, her speech was hyponasal and she exhibited high anterior hairline, sparse eyebrows, prominent ears, hypertelorism, euryblepharon, lagophthalmos, and mild ectropion of the lower eyelids. She also had marked midface hypoplasia with an anterior crossbite, and the lateral incisors were missing.
    • Cleft Lip And Cleft Palate Mayo_clinic
      Overview Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth (palate) or both. Cleft lip and cleft palate result when facial structures that are developing in an unborn baby don't close completely. Cleft lip and cleft palate are among the most common birth defects. They most commonly occur as isolated birth defects but are also associated with many inherited genetic conditions or syndromes. Having a baby born with a cleft can be upsetting, but cleft lip and cleft palate can be corrected. In most babies, a series of surgeries can restore normal function and achieve a more normal appearance with minimal scarring.
    • Orofacial Cleft 6, Susceptibility To Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to orofacial cleft-6 (OFC6) is conferred by variation in an enhancer of the IRF6 gene (607199) on chromosome 1q32. For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530. Mapping In van der Woude syndrome (VWS; 119300), lower lip pits are associated with CL/P or cleft palate only. Since none of these traits is present in all persons who carry the VWS mutation, some individual or familial VWS cases, especially those lacking lip pits, are indiscernible from nonsyndromic CL/P, raising the question of whether allelic variation at the VWS locus could underlie nonsyndromic CL/P. By linkage studies, Hecht et al. (1992) excluded the region of chromosome 1q which carries the van der Woude syndrome as the site of the mutation in this disorder and in isolated cleft palate.
    • Cleft Lip/palate Orphanet
      Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. Epidemiology The annual incidence ranges from 1/2,000 to 1/5,000 births. Cleft lip and palate is seen twice as commonly in boys. Clinical description The malformation is the association, in varying degrees, of cleft lip/alveolus and cleft palate (see these terms). The lip and alveolus anomaly is paramedian and is located at the philtrum level for the lip and at the level of the upper lateral incisors for the alveolar ridge. It involves a cutaneous, muscular and mucosal interruption in the lip in addition to a nostril and nasal septum deformity and a gap in the alveolar bone and dental arch.
    • Orofacial Cleft 12 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530. Mapping Birnbaum et al. (2009) conducted a genomewide association study involving 224 unrelated patients of Central European origin with nonsyndromic cleft lip with or without cleft palate (NSCL/P) and identified a 640-kb region on chromosome 8q24.21 containing 3 markers that reached genomewide significance. Fine mapping of the 640-kb region in 462 unrelated NSCL/P cases revealed a SNP (rs987525) that was significantly associated with the disorder (p = 3.34 x 10(-24); odds ratio, 2.57 for heterozygotes and 6.05 for homozygotes). The calculated population attributable risk for this marker was 0.41, suggesting that this represents a major susceptibility locus for NSCL/P. In independent Estonian and Lithuanian samples, Nikopensius et al. (2009) replicated the previously reported association between rs987525 and nonsyndromic oral clefting, obtaining highly significant results in both groups (p = 5.97 x 10(-5) and p = 1.6 x 10(-5), respectively).
    • Orofacial Cleft 9 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip/palate (CL/P), see 119530. Mapping In 2 Indian pedigrees with isolated, nonsyndromic cleft lip with or without cleft palate segregating as an autosomal dominant trait, Radhakrishna et al. (2006) demonstrated linkage to 13q33.1-q34, with a nonparametric linkage score of 5.57 at marker rs1830756. Haplotype analysis with informative crossovers enabled the mapping of a CL/P locus to a region of approximately 20.17 cM (7.42 Mb) between SNPs rs951095 and rs726455. The phenotype was variable, ranging from unilateral to bilateral CL/P. The authors noted that CL/P is very common in patients with trisomy involving all or part of chromosome 13 (Berge et al., 2001).
    • Orofacial Cleft 5 Omim
      A number sign (#) is used with this entry because of evidence that orofacial cleft-5 (OFC5) is caused by mutation in the MSX1 gene (142983) on chromosome 4p16. For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530. Molecular Genetics With both case-control- and nuclear family-based approaches, Lidral et al. (1998) screened candidate genes for clefting in both the CL/P CPO of the nonsyndromic type. Significant linkage disequilibrium was found between CL/P and both MSX1 and TGFB3 (190230) and between CPO and MSX1, suggesting that these genes are involved in the pathogenesis of clefting. In addition, a mutation search in the genes DLX2 (126255), MSX1, and TGFB3 was performed in 69 CPO patients and in a subset of CL/P patients.
  • Warm Antibody Autoimmune Hemolytic Anemia Wikipedia
    ., cold agglutinin disease and paroxysmal cold hemoglobinuria ) which happens in cold temperature (28–31 °C), WAIHA happens at body temperature. [ citation needed ] Contents 1 Causes 1.1 Medications 2 Pathophysiology 3 Diagnosis 3.1 Clinical findings 4 Treatment 5 See also 6 References 7 External links Causes [ edit ] AIHA may be: Idiopathic, that is, without any known cause [2] Secondary to another disease, such as an antecedent upper respiratory tract infection, systemic lupus erythematosus or a malignancy, such as chronic lymphocytic leukemia (CLL) [2] Medications [ edit ] Several medications have been associated with the development of warm AIHA. ... The IgG antibodies attach to a red blood cell, leaving their F C portion exposed with maximal reactivity at 37 °C (versus cold antibody induced hemolytic anemia whose antibodies only bind red blood cells at low body temperatures, typically 28-31 °C). The F C region is recognized and grabbed onto by F C receptors found on monocytes and macrophages in the spleen .
    IGHG3, SLC6A3, TNFSF13B, SIRPA
    • Autoimmune Hemolytic Anemia, Warm Type Orphanet
      Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C). Epidemiology Warm auto-antibodies are responsible for 60/70% of AIHA, whose annual incidence is estimated to be between 1/35,000-1/80,000 in North America and Western Europe. Clinical description Warm AIHA is more common in women (female to male ratio approximately 2:1 in adults). The disease is characterized by symptoms due to the anemia including fatigue, exertional dyspnea, and, more rarely, jaundice and dark urine in case of severe hemolysis. If the disease is severe, fever, chest pain, syncope or heart failure may occur.
    • Warm Antibody Hemolytic Anemia Gard
      Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia . It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing , jaundice and dark urine. In severe disease, fever, chest pain, syncope or heart failure may occur. Hemolysis (the breakdown of red blood cells) occurs mainly in the spleen, so mild splenomegaly is relatively common.
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