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

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Aliases & Descriptions for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 52 12 68
Microphthalmia, Isolated, 7 70 27
 
Mcop7 11 70
Isolated Microphthalmia 7 11

Classifications:



External Ids:

OMIM52 613704
Disease Ontology11 DOID:0060838
ICD1030 Q11.0
MedGen37 C3150969
MeSH39 D008850

Summaries for Microphthalmia, Isolated 7

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UniProtKB/Swiss-Prot:70 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:11 A microphthalmia characterized by unilateral microphthalmia that has material basis in caused by mutation in the GDF3 gene on chromosome 12p13.

Description from OMIM:52 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 110.9

Symptoms & Phenotypes for Microphthalmia, Isolated 7

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Clinical features from OMIM:

613704

Human phenotypes related to Microphthalmia, Isolated 7:

 64
id Description HPO Frequency HPO Source Accession
1 microphthalmia64 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 727

Anatomical Context for Microphthalmia, Isolated 7

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MalaCards organs/tissues related to Microphthalmia, Isolated 7:

36
Eye, Retina

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:

70
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_ 020634.2(GDF3): c.914T> C (p.Leu305Pro)SNVPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
2GDF3NM_ 020634.2(GDF3): c.584G> A (p.Arg195Gln)SNVPathogenicrs146973734GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet