KEGG   DISEASE: MicrophthalmiaHelp
Entry
H01027                      Disease                                

Name
Microphthalmia
  Subgroup
Anophthalmia
Microphthalmia, isolated (MCOP)
Microphthalmia with coloboma (MCPCB)
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01027  Microphthalmia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA10  Structural developmental anomalies of ocular globes
     H01027  Microphthalmia
BRITE hierarchy
Gene
(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336]
(MCOP3) RAX [HSA:30062] [KO:K09332]
(MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012]
(MCOP5) MFRP [HSA:83552]
(MCOP6) PRSS56 [HSA:646960]
(MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672]
(MCOP8) ALDH1A3 [HSA:220] [KO:K00129]
(MCOPCB5) SHH [HSA:6469] [KO:K11988]
(MCOPCB7) ABCB6 [HSA:10058] [KO:K05661]
(MCOPCB8) STRA6 [HSA:64220] [KO:K23088]
(MCOPCB9) TENM3 [HSA:55714]
(MCOPCB10) RBP4 [HSA:5950] [KO:K18271]
Other DBs
ICD-11: LA10.0
ICD-10: Q11
MeSH: D008850
OMIM: 251600 610093 611038 613094 611040 613517 613704 615113 300345 610092 611638 613703 614497 601186 615145 616428
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
PMID:18039390 (description, gene, environmental factor)
  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
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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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