MCOPCB4
MCID: MCR335
MIFTS: 14

Microphthalmia, Isolated, with Coloboma 4 (MCOPCB4)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 4

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 4:

Name: Microphthalmia, Isolated, with Coloboma 4 57 70
Microphthalmia with Colobomatous Cyst 57
Mcopcb4 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
microphthalmia, isolated, with coloboma 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 251505
MedGen 41 C1855053
UMLS 70 C1855053

Summaries for Microphthalmia, Isolated, with Coloboma 4

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 4, also known as microphthalmia with colobomatous cyst, is related to colobomatous microphthalmia and isolated microphthalmia. Affiliated tissues include eye, and related phenotypes are microphthalmia and microcornea

More information from OMIM: 251505

Related Diseases for Microphthalmia, Isolated, with Coloboma 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 colobomatous microphthalmia 11.4
2 isolated microphthalmia 10.2
3 microphthalmia 10.2

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 4

Human phenotypes related to Microphthalmia, Isolated, with Coloboma 4:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 very rare (1%) HP:0000568
2 microcornea 31 very rare (1%) HP:0000482
3 coloboma 31 very rare (1%) HP:0000589
4 orbital cyst 31 very rare (1%) HP:0001144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
microphthalmia
colobomatous cyst

Clinical features from OMIM®:

251505 (Updated 20-May-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 4

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 4

Genetic Tests for Microphthalmia, Isolated, with Coloboma 4

Anatomical Context for Microphthalmia, Isolated, with Coloboma 4

MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 4:

40
Eye

Publications for Microphthalmia, Isolated, with Coloboma 4

Articles related to Microphthalmia, Isolated, with Coloboma 4:

# Title Authors PMID Year
1
Hereditary microphthalmia with colobomatous cyst. 57 61
1621783 1992
2
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 57
10711890 2000

Variations for Microphthalmia, Isolated, with Coloboma 4

Expression for Microphthalmia, Isolated, with Coloboma 4

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 4.

Pathways for Microphthalmia, Isolated, with Coloboma 4

GO Terms for Microphthalmia, Isolated, with Coloboma 4

Sources for Microphthalmia, Isolated, with Coloboma 4

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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