KEGG   DISEASE: Microphthalmia, syndromic
Entry
H02170                      Disease                                

Name
Microphthalmia, syndromic
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H02170  Microphthalmia, syndromic
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
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]
Other DBs
ICD-11: LD21.0
ICD-10: Q11.2
MeSH: C537464 C537465 C565948 C566441 C566440 C537768
OMIM: 309800 300166 206900 610125 607932 309801 601186 614402 615524 300915 615877
Reference
  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
Reference
  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
Reference
  Authors
Verma AS, Fitzpatrick DR
  Title
Anophthalmia and microphthalmia.
  Journal
Orphanet J Rare Dis 2:47 (2007)
DOI:10.1186/1750-1172-2-47
Reference
  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
  Title
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
  Journal
J Med Genet 51:185-96 (2014)
DOI:10.1136/jmedgenet-2013-101660
Reference
  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
  Title
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
  Journal
Hum Mutat 33:364-8 (2012)
DOI:10.1002/humu.21658
Reference
  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
  Title
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
  Journal
Am J Hum Genet 93:765-72 (2013)
DOI:10.1016/j.ajhg.2013.08.014
Reference
  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
  Title
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
  Journal
JAMA Ophthalmol 132:1215-20 (2014)
DOI:10.1001/jamaophthalmol.2014.1731
Reference
  Authors
Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV
  Title
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
  Journal
PLoS Genet 11:e1005002 (2015)
DOI:10.1371/journal.pgen.1005002
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