KEGG DISEASE: Microphthalmia

KEGG

DISEASE: Microphthalmia

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H01027  Microphthalmia
  nt06501  HH signaling
   H01027  Microphthalmia

Pathway

hsa04310 Wnt signaling pathway

Network

nt06501 HH signaling
nt06505 WNT signaling

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]
(MCOPCB11) FZD5 [HSA:7855] [KO:K02375]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

251600 610093 613094 611040 613517 613704 615113 300345 610092 611638 613703 614497 601186 615145 616428 620731

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

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

Reference

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

Reference

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)

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

PMID:26908622 (MCOPCB11)

Authors

Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA, Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A

Title

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.

Journal

Hum Mol Genet 25:1382-91 (2016)
DOI:10.1093/hmg/ddw020

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