H01027 | |
H number | H01027 |
Name | Microphthalmia |
Description | Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Coloboma, or a defect in the closure of the choroid fissure, is most common ocular malformation associated with microphthalmia. Coloboma is considered to be part of the A/M spectrum. A/M can be isolated, associated other anomalies or part of a well defined syndrome. A/M have complex aetiology with chromosomal, monogenic and environmental causes identified. |
Category | Congenital malformation |
Network | - |
Gene | (MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336] (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012] (MCOP5) MFRP [HSA:83552] [KO:K24359] (MCOP6) PRSS56 [HSA:646960] [KO:K23440] (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672] (MCOP8) ALDH1A3 [HSA:220] [KO:K07249] (MCOPCB5) SHH [HSA:6469] [KO:K11988] (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661] (MCOPCB8) STRA6 [HSA:64220] [KO:K23088] (MCOPCB9) TENM3 [HSA:55714] [KO:K24473] (MCOPCB10) RBP4 [HSA:5950] [KO:K18271] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LA10.0 ICD-10: Q11 MeSH: D008850 OMIM: 251600 610093 613094 611040 613517 613704 615113 300345 610092 611638 613703 614497 601186 615145 616428 |
Reference | PMID:22005280 AUTHORS Slavotinek AM TITLE Eye development genes and known syndromes. JOURNAL Mol Genet Metab 104:448-56 (2011) DOI:10.1016/j.ymgme.2011.09.029 PMID:21825993 AUTHORS Bardakjian TM, Schneider A TITLE The genetics of anophthalmia and microphthalmia. JOURNAL Curr Opin Ophthalmol 22:309-13 (2011) DOI:10.1097/ICU.0b013e328349b004 PMID:18039390 AUTHORS Verma AS, Fitzpatrick DR TITLE Anophthalmia and microphthalmia. JOURNAL Orphanet J Rare Dis 2:47 (2007) DOI:10.1186/1750-1172-2-47 PMID:15257456 (MCOP2) AUTHORS Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS TITLE CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. JOURNAL Hum Genet 115:302-9 (2004) DOI:10.1007/s00439-004-1154-2 PMID:19129173 (MCOP4) AUTHORS Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauve Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquie O, Underhill TM, Waskiewicz AJ, Lehmann OJ TITLE Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. JOURNAL Hum Mol Genet 18:1110-21 (2009) DOI:10.1093/hmg/ddp008 PMID:17167404 (MCOP5) AUTHORS Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC TITLE A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. JOURNAL Mol Vis 12:1483-9 (2006) PMID:21397065 (MCOP6) AUTHORS Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T TITLE Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. JOURNAL Am J Hum Genet 88:382-90 (2011) DOI:10.1016/j.ajhg.2011.02.006 PMID:19864492 (MCOP7 MCOPCB6) AUTHORS Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ TITLE Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. JOURNAL Hum Mol Genet 19:287-98 (2010) DOI:10.1093/hmg/ddp496 PMID:23312594 (MCOP8) AUTHORS Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gerard X, Baumann C, Plessis G, Demeer B, Bretillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM TITLE ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. JOURNAL Am J Hum Genet 92:265-70 (2013) DOI:10.1016/j.ajhg.2012.12.003 PMID:10932181 (MCOPCB3) AUTHORS Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR TITLE Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. JOURNAL Nat Genet 25:397-401 (2000) DOI:10.1038/78071 PMID:12503095 (MCOPCB5) AUTHORS Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M TITLE Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. JOURNAL Am J Med Genet A 116A:215-21 (2003) DOI:10.1002/ajmg.a.10884 PMID:22226084 (MCOPCB7) AUTHORS Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z TITLE ABCB6 mutations cause ocular coloboma. JOURNAL Am J Hum Genet 90:40-8 (2012) DOI:10.1016/j.ajhg.2011.11.026 PMID:21901792 (MCOPCB8) AUTHORS Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chroinin MN, Kennedy BN, Lynch S, Green A, Ennis S TITLE First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. JOURNAL Hum Mutat 32:1417-26 (2011) DOI:10.1002/humu.21590 PMID:27103084 (MCOPCB9) AUTHORS Chassaing N, Ragge N, Plaisancie J, Patat O, Genevieve D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P TITLE Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. JOURNAL Am J Med Genet A 170:1895-8 (2016) DOI:10.1002/ajmg.a.37667 PMID:25910211 (MCOPCB10) AUTHORS Chou CM, Nelson C, Tarle SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T TITLE Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. JOURNAL Cell 161:634-646 (2015) DOI:10.1016/j.cell.2015.03.006 |