MCOPCB1
MCID: MCR338
MIFTS: 13

Microphthalmia, Isolated, with Coloboma 1 (MCOPCB1)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 1

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 1:

Name: Microphthalmia, Isolated, with Coloboma 1 57 13 70
Microphthalmia, Colobomatous, Isolated 1 57
Microphthalmia with Coloboma 1 57
Mcopcb1 57

Classifications:



External Ids:

OMIM® 57 300345
OMIM Phenotypic Series 57 PS300345
MedGen 41 C1845877
UMLS 70 C1845877

Summaries for Microphthalmia, Isolated, with Coloboma 1

OMIM® : 57 Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure. The defect can be unilateral or bilateral and can involve the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically, coloboma is often associated with microphthalmia or clinical anophthalmia and can occur as part of complex malformation syndromes (summary by Wang et al., 2012). (300345) (Updated 20-May-2021)

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 1, also known as microphthalmia, colobomatous, isolated 1, is related to microphthalmia. An important gene associated with Microphthalmia, Isolated, with Coloboma 1 is MCOPCB1 (Microphthalmia, Colobomatous, 1). Affiliated tissues include eye and retina.

Related Diseases for Microphthalmia, Isolated, with Coloboma 1

Diseases in the Microphthalmia, Isolated, with Coloboma 6 family:

Microphthalmia, Isolated, with Coloboma 4 Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2 Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Isolated, with Coloboma 5 Microphthalmia, Isolated, with Coloboma 7
Microphthalmia, Isolated, with Coloboma 9 Microphthalmia, Isolated, with Coloboma 10

Diseases related to Microphthalmia, Isolated, with Coloboma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 11.1

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 1

Clinical features from OMIM®:

300345 (Updated 20-May-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 1

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 1

Genetic Tests for Microphthalmia, Isolated, with Coloboma 1

Anatomical Context for Microphthalmia, Isolated, with Coloboma 1

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 1:

40
Eye, Retina

Publications for Microphthalmia, Isolated, with Coloboma 1

Articles related to Microphthalmia, Isolated, with Coloboma 1:

(showing 3, show less)
# Title Authors PMID Year
1
ABCB6 mutations cause ocular coloboma. 57
22226084 2012
2
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. 57
11391653 2001
3
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018

Variations for Microphthalmia, Isolated, with Coloboma 1

Expression for Microphthalmia, Isolated, with Coloboma 1

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 1.

Pathways for Microphthalmia, Isolated, with Coloboma 1

GO Terms for Microphthalmia, Isolated, with Coloboma 1

Sources for Microphthalmia, Isolated, with Coloboma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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