COAR
MCID: CLB022
MIFTS: 22

Coloboma, Ocular, Autosomal Recessive (COAR)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma, Ocular, Autosomal Recessive

MalaCards integrated aliases for Coloboma, Ocular, Autosomal Recessive:

Name: Coloboma, Ocular, Autosomal Recessive 58 76 41
Ocular Coloboma, Autosomal Recessive 30 6
Coar 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of one consanguineous kuwaiti family (last curated december 2014)


HPO:

33
coloboma, ocular, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coloboma, Ocular, Autosomal Recessive

OMIM : 58 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. (216820)

MalaCards based summary : Coloboma, Ocular, Autosomal Recessive, also known as ocular coloboma, autosomal recessive, is related to breast cancer and ovarian cancer. An important gene associated with Coloboma, Ocular, Autosomal Recessive is SALL2 (Spalt Like Transcription Factor 2). Affiliated tissues include eye, retina and breast, and related phenotypes are cataract and lens subluxation

UniProtKB/Swiss-Prot : 76 Coloboma, ocular, autosomal recessive: An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

Related Diseases for Coloboma, Ocular, Autosomal Recessive

Diseases in the Coloboma, Ocular, Autosomal Dominant family:

Coloboma, Ocular, Autosomal Recessive

Diseases related to Coloboma, Ocular, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 breast cancer 10.1
2 ovarian cancer 10.1
3 ovarian epithelial cancer 10.1

Symptoms & Phenotypes for Coloboma, Ocular, Autosomal Recessive

Human phenotypes related to Coloboma, Ocular, Autosomal Recessive:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 lens subluxation 33 occasional (7.5%) HP:0001132
3 esotropia 33 occasional (7.5%) HP:0000565
4 exotropia 33 occasional (7.5%) HP:0000577
5 hypertropia 33 very rare (1%) HP:0025586
6 nystagmus 33 HP:0000639
7 reduced visual acuity 33 HP:0007663
8 coloboma 33 HP:0000589

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity
exotropia (in some patients)
coloboma, inferior iris
coloboma, retinochoroidal
coloboma of optic disc
more

Clinical features from OMIM:

216820

Drugs & Therapeutics for Coloboma, Ocular, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Coloboma, Ocular, Autosomal Recessive

Genetic Tests for Coloboma, Ocular, Autosomal Recessive

Genetic tests related to Coloboma, Ocular, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ocular Coloboma, Autosomal Recessive 30 SALL2

Anatomical Context for Coloboma, Ocular, Autosomal Recessive

MalaCards organs/tissues related to Coloboma, Ocular, Autosomal Recessive:

42
Eye, Retina, Breast

Publications for Coloboma, Ocular, Autosomal Recessive

Articles related to Coloboma, Ocular, Autosomal Recessive:

# Title Authors Year
1
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. ( 24412933 )
2014

Variations for Coloboma, Ocular, Autosomal Recessive

ClinVar genetic disease variations for Coloboma, Ocular, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL2 NM_005407.2(SALL2): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs587776429 GRCh38 Chromosome 14, 21525643: 21525643
2 SALL2 NM_005407.2(SALL2): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs587776429 GRCh37 Chromosome 14, 21993777: 21993777

Expression for Coloboma, Ocular, Autosomal Recessive

Search GEO for disease gene expression data for Coloboma, Ocular, Autosomal Recessive.

Pathways for Coloboma, Ocular, Autosomal Recessive

GO Terms for Coloboma, Ocular, Autosomal Recessive

Sources for Coloboma, Ocular, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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