MCID: MCR108
MIFTS: 16

Microphthalmia, Isolated 7 malady

Genetic diseases (common), Eye diseases categories

Aliases & Classifications for Microphthalmia, Isolated 7

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Aliases & Descriptions for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 49 11
Microphthalmia, Isolated, 7 67
 
Mcop7 67


Classifications:



External Ids:

OMIM49 613704
MedGen34 C3150969
MeSH36 D008850

Summaries for Microphthalmia, Isolated 7

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UniProtKB/Swiss-Prot:67 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 microphthalmos An important gene associated with Microphthalmia, Isolated 7 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include eye and retina.

Description from OMIM:49 613704

Related Diseases for Microphthalmia, Isolated 7

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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:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, isolated 110.1

Symptoms for Microphthalmia, Isolated 7

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Clinical features from OMIM:

613704

HPO human phenotypes related to Microphthalmia, Isolated 7:

id Description Frequency HPO Source Accession
1 microphthalmos HP:0000568

Drugs & Therapeutics for Microphthalmia, Isolated 7

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia, Isolated 7

Genetic Tests for Microphthalmia, Isolated 7

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Anatomical Context for Microphthalmia, Isolated 7

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MalaCards organs/tissues related to Microphthalmia, Isolated 7:

33
Eye, Retina

Animal Models for Microphthalmia, Isolated 7 or affiliated genes

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Publications for Microphthalmia, Isolated 7

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Variations for Microphthalmia, Isolated 7

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

67
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg195GlnVAR_065147
2GDF3p.Leu305ProVAR_065150

Clinvar genetic disease variations for Microphthalmia, Isolated 7:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.914T> C (p.Leu305Pro)single nucleotide variantPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
2GDF3NM_020634.1(GDF3): c.584G> A (p.Arg195Gln)single nucleotide variantPathogenicrs146973734GRCh37Chr 12, 7842985: 7842985

Expression for genes affiliated with Microphthalmia, Isolated 7

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

Pathways for genes affiliated with Microphthalmia, Isolated 7

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GO Terms for genes affiliated with Microphthalmia, Isolated 7

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Sources for Microphthalmia, Isolated 7

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet