MCID: MCR108
MIFTS: 17

Microphthalmia, Isolated 7 malady

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

Aliases & Classifications for Microphthalmia, Isolated 7

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Aliases & Descriptions for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 50 12
Microphthalmia, Isolated, 7 68 25
 
Mcop7 68

Classifications:



External Ids:

OMIM50 613704
MedGen35 C3150969
MeSH37 D008850

Summaries for Microphthalmia, Isolated 7

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UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 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 110.0

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 microphthalmia 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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Genetic tests related to Microphthalmia, Isolated 7:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 725

Anatomical Context for Microphthalmia, Isolated 7

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MalaCards organs/tissues related to Microphthalmia, Isolated 7:

34
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:

68
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg195GlnVAR_065147rs146973734
2GDF3p.Leu305ProVAR_065150rs387906945

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet