 | DISEASE: Microphthalmia, syndromic | Help |
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| Name | Microphthalmia, syndromic |
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| Description | Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck. |
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| Category | Congenital malformation |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD21 Syndromes with eye anomalies as a major feature H02170 Microphthalmia, syndromic Pathway-based classification of diseases [BR:br08402] Cellular process nt06523 Epigenetic regulation by Polycomb complexes H02170 Microphthalmia, syndromic BRITE hierarchy |
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| Network | nt06523 Epigenetic regulation by Polycomb complexes |
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| Gene | (MCOPS1) NAA10 [HSA:8260] [KO:K20791] (MCOPS2) BCOR [HSA:54880] [KO:K23215] (MCOPS3) SOX2 [HSA:6657] [KO:K16796] (MCOPS5) OTX2 [HSA:5015] [KO:K18490] (MCOPS6) BMP4 [HSA:652] [KO:K04662] (MCOPS7) HCCS [HSA:3052] [KO:K01764] (MCOPS9) STRA6 [HSA:64220] [KO:K23088] (MCOPS11) VAX1 [HSA:11023] [KO:K09318] (MCOPS12) RARB [HSA:5915] [KO:K08528] (MCOPS13) HMGB3 [HSA:3149] [KO:K11296] (MCOPS14) MAB21L2 [HSA:10586] [KO:K23092] (MCOPS15) TENM3 [HSA:55714] [KO:K24473] (MCOPS16) RAX [HSA:30062] [KO:K09332] |
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| Other DBs | | MeSH: | C537464 C537465 C565948 C566441 C566440 C537768 |
| OMIM: | 309800 300166 206900 610125 607932 309801 601186 614402 615524 300915 615877 615145 611038 |
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| Reference | PMID:22005280 |
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| Authors | Slavotinek AM |
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| Title | Eye development genes and known syndromes. |
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| Journal | Mol Genet Metab 104:448-56 (2011)DOI:10.1016/j.ymgme.2011.09.029 |
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| Reference | PMID:21825993 |
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| Authors | Bardakjian TM, Schneider A |
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| Title | The genetics of anophthalmia and microphthalmia. |
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| Journal | Curr Opin Ophthalmol 22:309-13 (2011)DOI:10.1097/ICU.0b013e328349b004 |
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| Reference | PMID:18039390 |
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| Authors | Verma AS, Fitzpatrick DR |
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| Title | Anophthalmia and microphthalmia. |
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| Journal | Orphanet J Rare Dis 2:47 (2007)DOI:10.1186/1750-1172-2-47 |
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| Reference | PMID:24431331 (NAA10) |
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| Authors | Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T |
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| Title | A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. |
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| Journal | J Med Genet 51:185-96 (2014)DOI:10.1136/jmedgenet-2013-101660 |
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| Reference | PMID:15004558 (BCOR) |
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| Authors | Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG |
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| Title | Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. |
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| Journal | Nat Genet 36:411-6 (2004)DOI:10.1038/ng1321 |
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| Reference | PMID:12612584 (SOX2) |
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| Authors | Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR |
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| Title | Mutations in SOX2 cause anophthalmia. |
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| Journal | Nat Genet 33:461-3 (2003)DOI:10.1038/ng1120 |
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| Reference | PMID:15846561 (OTX2) |
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| Authors | Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM |
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| Title | Heterozygous mutations of OTX2 cause severe ocular malformations. |
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| Journal | Am J Hum Genet 76:1008-22 (2005)DOI:10.1086/430721 |
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| Reference | PMID:18252212 (BMP4) |
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| Authors | Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK |
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| Title | Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. |
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| Journal | Am J Hum Genet 82:304-19 (2008)DOI:10.1016/j.ajhg.2007.09.023 |
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| Reference | PMID:17033964 (HCCS) |
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| Authors | Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K |
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| Title | Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. |
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| Journal | Am J Hum Genet 79:878-89 (2006)DOI:10.1086/508474 |
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| Reference | PMID:17273977 (STRA6) |
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| Authors | Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A |
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| Title | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. |
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| Journal | Am J Hum Genet 80:550-60 (2007)DOI:10.1086/512203 |
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| Reference | PMID:22095910 (VAX1) |
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| Authors | Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF |
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| Title | VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. |
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| Journal | Hum Mutat 33:364-8 (2012)DOI:10.1002/humu.21658 |
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| Reference | PMID:24075189 (RARB) |
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| Authors | Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL |
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| Title | Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. |
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| Journal | Am J Hum Genet 93:765-72 (2013)DOI:10.1016/j.ajhg.2013.08.014 |
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| Reference | PMID:24993872 (HMGB3) |
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| Authors | Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW |
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| Title | Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. |
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| Journal | JAMA Ophthalmol 132:1215-20 (2014)DOI:10.1001/jamaophthalmol.2014.1731 |
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| Reference | PMID:25719200 (MAB21L2) |
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| Authors | Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV |
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| Title | Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. |
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| Journal | PLoS Genet 11:e1005002 (2015)DOI:10.1371/journal.pgen.1005002 |
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| Reference | PMID:29753094 (TENM3) |
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| Authors | Singh B, Srivastava P, Phadke SR |
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| Title | Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. |
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| Journal | Eur J Med Genet 62:61-64 (2019)DOI:10.1016/j.ejmg.2018.05.004 |
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| Reference | PMID:14662654 (RAX) |
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| Authors | Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH |
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| Title | Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. |
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| Journal | Hum Mol Genet 13:315-22 (2004)DOI:10.1093/hmg/ddh025 |
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