MCOP4
MCID: MCR109
MIFTS: 22

Microphthalmia, Isolated 4 (MCOP4) malady

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

Aliases & Classifications for Microphthalmia, Isolated 4

Aliases & Descriptions for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 54 24 13 69
Mcop4 12 24 66
Microphthalmia, Isolated, 4 66 29
Isolated Microphthalmia 4 12 24
Isolated Clinical Anophthalmia 66

Characteristics:

HPO:

32
microphthalmia, isolated 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613094
Disease Ontology 12 DOID:0060836
ICD10 33 Q11.0
MedGen 40 C2751307
MeSH 42 D008850

Summaries for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot : 66 Microphthalmia, isolated, 4: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.

MalaCards based summary : Microphthalmia, Isolated 4, also known as mcop4, is related to microphthalmia, isolated 2 and microphthalmia, isolated 3, and has symptoms including microphthalmia, coloboma and postaxial polydactyly. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include eye, retina and testis.

Disease Ontology : 12 A microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22.

Description from OMIM: 613094

Related Diseases for Microphthalmia, Isolated 4

Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 6 Microphthalmia, Isolated 4
Microphthalmia, Isolated 5 Microphthalmia, Isolated 7
Microphthalmia, Isolated 2 Microphthalmia, Isolated 1
Microphthalmia, Isolated 8 Microphthalmia, Isolated 3

Diseases related to Microphthalmia, Isolated 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.1
2 microphthalmia, isolated 3 11.1
3 microphthalmia, isolated 1 10.9

Symptoms & Phenotypes for Microphthalmia, Isolated 4

Clinical features from OMIM:

613094

Human phenotypes related to Microphthalmia, Isolated 4:

32
id Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568
2 coloboma 32 HP:0000589
3 postaxial polydactyly 32 HP:0100259
4 absent testis 32 HP:0010469

Drugs & Therapeutics for Microphthalmia, Isolated 4

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

Genetic Tests for Microphthalmia, Isolated 4

Genetic tests related to Microphthalmia, Isolated 4:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 4 29
2 Isolated Microphthalmia 4 24 GDF6

Anatomical Context for Microphthalmia, Isolated 4

MalaCards organs/tissues related to Microphthalmia, Isolated 4:

39
Eye, Retina, Testis

Publications for Microphthalmia, Isolated 4

Variations for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 4:

66
id Symbol AA change Variation ID SNP ID
1 GDF6 p.Ala249Glu VAR_046903 rs121909352
2 GDF6 p.Gln119Arg VAR_063025 rs140579014
3 GDF6 p.Asp216Gly VAR_063026
4 GDF6 p.Gln253Leu VAR_063027 rs121909355
5 GDF6 p.Pro327His VAR_063028 rs121909356

ClinVar genetic disease variations for Microphthalmia, Isolated 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.758A> T (p.Gln253Leu) single nucleotide variant Pathogenic rs121909355 GRCh37 Chromosome 8, 97157401: 97157401
2 GDF6 NM_001001557.3(GDF6): c.980C> A (p.Pro327His) single nucleotide variant Pathogenic rs121909356 GRCh37 Chromosome 8, 97157179: 97157179

Expression for Microphthalmia, Isolated 4

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

Pathways for Microphthalmia, Isolated 4

GO Terms for Microphthalmia, Isolated 4

Sources for Microphthalmia, Isolated 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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