MCID: MCR338
MIFTS: 15

Microphthalmia, Isolated, with Coloboma 1

Categories: 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 73
Microphthalmia with Coloboma 1 57 13
Microphthalmia, Colobomatous, Isolated 1 57
Mcopcb1 57

Classifications:



External Ids:

OMIM 57 300345
MedGen 42 C1845877
UMLS 73 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)

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

Related Diseases for Microphthalmia, Isolated, with Coloboma 1

Diseases in the Microphthalmia, Isolated, with Coloboma 3 family:

Microphthalmia, Isolated, with Coloboma 4 Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2 Microphthalmia, Isolated, with Coloboma 5
Microphthalmia, Isolated, with Coloboma 6 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:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 11.0
2 coloboma of macula 10.9
3 colobomatous microphthalmia 10.9

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 1

Clinical features from OMIM:

300345

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:

41
Retina, Eye

Publications for Microphthalmia, Isolated, with Coloboma 1

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 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
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