MCOP7
MCID: MCR108
MIFTS: 19

Microphthalmia, Isolated 7 (MCOP7) malady

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

Aliases & Classifications for Microphthalmia, Isolated 7

Aliases & Descriptions for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 54 13 69
Microphthalmia, Isolated, 7 66 29
Mcop7 12 66
Isolated Microphthalmia 7 12

Classifications:



External Ids:

OMIM 54 613704
Disease Ontology 12 DOID:0060838
ICD10 33 Q11.0
MedGen 40 C3150969
MeSH 42 D008850

Summaries for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot : 66 Microphthalmia, isolated, 7: 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 7, also known as microphthalmia, isolated, 7, is related to microphthalmia, isolated 1, and has symptoms including microphthalmia An important gene associated with Microphthalmia, Isolated 7 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include eye and retina.

Disease Ontology : 12 A microphthalmia characterized by unilateral microphthalmia that has material basis in caused by mutation in the GDF3 gene on chromosome 12p13.

Description from OMIM: 613704

Related Diseases for Microphthalmia, Isolated 7

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

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

Symptoms & Phenotypes for Microphthalmia, Isolated 7

Clinical features from OMIM:

613704

Human phenotypes related to Microphthalmia, Isolated 7:

32
id Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568

Drugs & Therapeutics for Microphthalmia, Isolated 7

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 7

Genetic Tests for Microphthalmia, Isolated 7

Genetic tests related to Microphthalmia, Isolated 7:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 7 29

Anatomical Context for Microphthalmia, Isolated 7

MalaCards organs/tissues related to Microphthalmia, Isolated 7:

39
Eye, Retina

Publications for Microphthalmia, Isolated 7

Variations for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 7:

66
id Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg195Gln VAR_065147 rs146973734
2 GDF3 p.Leu305Pro VAR_065150 rs387906945

ClinVar genetic disease variations for Microphthalmia, Isolated 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GDF3 NM_020634.2(GDF3): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs387906945 GRCh37 Chromosome 12, 7842655: 7842655
2 GDF3 NM_020634.2(GDF3): c.584G> A (p.Arg195Gln) single nucleotide variant Pathogenic rs146973734 GRCh37 Chromosome 12, 7842985: 7842985

Expression for Microphthalmia, Isolated 7

Search GEO for disease gene expression data for Microphthalmia, Isolated 7.

Pathways for Microphthalmia, Isolated 7

GO Terms for Microphthalmia, Isolated 7

Sources for Microphthalmia, Isolated 7

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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