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 57 75 40
Ocular Coloboma, Autosomal Recessive 29 6
Coar 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
coloboma, ocular, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coloboma, Ocular, Autosomal Recessive

OMIM : 57 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 nystagmus and cataract

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Coloboma, Ocular, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Coloboma, Ocular, Autosomal Recessive:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cataract 32 occasional (7.5%) HP:0000518
3 reduced visual acuity 32 HP:0007663
4 lens subluxation 32 occasional (7.5%) HP:0001132
5 esotropia 32 occasional (7.5%) HP:0000565
6 coloboma 32 HP:0000589
7 exotropia 32 occasional (7.5%) HP:0000577
8 hypertropia 32 very rare (1%) HP:0025586

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 29 SALL2

Anatomical Context for Coloboma, Ocular, Autosomal Recessive

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

41
Eye, Retina, Breast

Publications for Coloboma, Ocular, Autosomal Recessive

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 GRCh37 Chromosome 14, 21993777: 21993777
2 SALL2 NM_005407.2(SALL2): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs587776429 GRCh38 Chromosome 14, 21525643: 21525643

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....