| H01027 | |
| H番号 | H01027 |
| 名称 | 小眼球症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:22005280 著者 Slavotinek AM タイトル Eye development genes and known syndromes. 雑誌 Mol Genet Metab 104:448-56 (2011) DOI:10.1016/j.ymgme.2011.09.029 PMID:21825993 著者 Bardakjian TM, Schneider A タイトル The genetics of anophthalmia and microphthalmia. 雑誌 Curr Opin Ophthalmol 22:309-13 (2011) DOI:10.1097/ICU.0b013e328349b004 PMID:18039390 著者 Verma AS, Fitzpatrick DR タイトル Anophthalmia and microphthalmia. 雑誌 Orphanet J Rare Dis 2:47 (2007) DOI:10.1186/1750-1172-2-47 PMID:15257456 (MCOP2) 著者 Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS タイトル CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 雑誌 Hum Genet 115:302-9 (2004) DOI:10.1007/s00439-004-1154-2 PMID:19129173 (MCOP4) 著者 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 タイトル Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 雑誌 Hum Mol Genet 18:1110-21 (2009) DOI:10.1093/hmg/ddp008 PMID:17167404 (MCOP5) 著者 Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC タイトル A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 雑誌 Mol Vis 12:1483-9 (2006) PMID:21397065 (MCOP6) 著者 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 タイトル Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 雑誌 Am J Hum Genet 88:382-90 (2011) DOI:10.1016/j.ajhg.2011.02.006 PMID:19864492 (MCOP7 MCOPCB6) 著者 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 タイトル Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 雑誌 Hum Mol Genet 19:287-98 (2010) DOI:10.1093/hmg/ddp496 PMID:23312594 (MCOP8) 著者 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 タイトル ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 雑誌 Am J Hum Genet 92:265-70 (2013) DOI:10.1016/j.ajhg.2012.12.003 PMID:10932181 (MCOPCB3) 著者 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 タイトル Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. 雑誌 Nat Genet 25:397-401 (2000) DOI:10.1038/78071 PMID:12503095 (MCOPCB5) 著者 Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M タイトル Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 雑誌 Am J Med Genet A 116A:215-21 (2003) DOI:10.1002/ajmg.a.10884 PMID:22226084 (MCOPCB7) 著者 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 タイトル ABCB6 mutations cause ocular coloboma. 雑誌 Am J Hum Genet 90:40-8 (2012) DOI:10.1016/j.ajhg.2011.11.026 PMID:21901792 (MCOPCB8) 著者 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 タイトル First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. 雑誌 Hum Mutat 32:1417-26 (2011) DOI:10.1002/humu.21590 PMID:27103084 (MCOPCB9) 著者 Chassaing N, Ragge N, Plaisancie J, Patat O, Genevieve D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, Calvas P タイトル Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. 雑誌 Am J Med Genet A 170:1895-8 (2016) DOI:10.1002/ajmg.a.37667 PMID:25910211 (MCOPCB10) 著者 Chou CM, Nelson C, Tarle SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T タイトル Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 雑誌 Cell 161:634-646 (2015) DOI:10.1016/j.cell.2015.03.006 |