Coloboma, Ocular, Autosomal Recessive

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Genes related to Coloboma, Ocular, Autosomal Recessive

SALL2

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Clinical Features

Phenotypes and symptoms related to Coloboma, Ocular, Autosomal Recessive

Nystagmus
Cataract
Reduced visual acuity
Coloboma
Iris coloboma
Esotropia
Exotropia
Lens subluxation
Hypertropia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Coloboma, Ocular, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Eye Diseases - panels. By MGZ Medical Genetics Center (Germany). BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...) View the complete list with 146 more genes Panel complete gene list BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB Specificity 1 % Genes 100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC). By MGZ Medical Genetics Center (Germany). SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2 , (...) View the complete list with 28 more genes Panel complete gene list SALL2, BMP4, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, TGIF1, VAX1, ZIC2, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, VSX2, SMOC1, CHD7, BCOR, VPS13B, CRYBA4, FREM2, CYP1B1, C12orf57, TENM3, STRA6, ERCC1, ERCC2, ERCC5, ERCC6, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, ABCB6, HCCS, HESX1, HMX1, MAB21L2, NDP, OCRL, OTX2, PAX2 Specificity 3 % Genes 100 %
SALL2. By Fulgent Genetics Fulgent Genetics (United States). SALL2 Specificity 100 % Genes 100 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3 , (...) View the complete list with 9 more genes Panel complete gene list SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, MAB21L2, OTX2, PAX2, PAX6, RARB Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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