MCID: MCR109
MIFTS: 28

Microphthalmia, Isolated 4 malady

Categories: Genetic diseases (common), Eye diseases

Aliases & Classifications for Microphthalmia, Isolated 4

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Aliases & Descriptions for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 49 11 65
Microphthalmia, Isolated, 4 67 24
 
Isolated Clinical Anophthalmia 67
Mcop4 67

Characteristics:

HPO:

61
microphthalmia, isolated 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 613094
MedGen34 C2751307
MeSH36 D008850
UMLS65 C2751307

Summaries for Microphthalmia, Isolated 4

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UniProtKB/Swiss-Prot:67 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 microphthalmia, isolated, 4, 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), and among its related pathways is . Affiliated tissues include eye, retina and testes.

Description from OMIM:49 613094

Related Diseases for Microphthalmia, Isolated 4

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Graphical network of diseases related to Microphthalmia, Isolated 4:



Diseases related to microphthalmia, isolated 4

Symptoms for Microphthalmia, Isolated 4

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Clinical features from OMIM:

613094

HPO human phenotypes related to Microphthalmia, Isolated 4:

id Description Frequency HPO Source Accession
1 microphthalmia hallmark (90%) HP:0000568
2 coloboma very rare (1%) HP:0000589
3 postaxial polydactyly very rare (1%) HP:0100259
4 aplasia of the testes HP:0010469

Drugs & Therapeutics for Microphthalmia, Isolated 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia, Isolated 4

Genetic Tests for Microphthalmia, Isolated 4

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Anatomical Context for Microphthalmia, Isolated 4

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MalaCards organs/tissues related to Microphthalmia, Isolated 4:

33
Eye, Retina, Testes

Animal Models for Microphthalmia, Isolated 4 or affiliated genes

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Publications for Microphthalmia, Isolated 4

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Variations for Microphthalmia, Isolated 4

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

67
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Gln119ArgVAR_063025rs140579014
3GDF6p.Asp216GlyVAR_063026
4GDF6p.Gln253LeuVAR_063027
5GDF6p.Pro327HisVAR_063028rs121909356

Clinvar genetic disease variations for Microphthalmia, Isolated 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.2(GDF6): c.758A> T (p.Gln253Leu)single nucleotide variantPathogenicrs121909355GRCh37Chr 8, 97157401: 97157401
3GDF6NM_001001557.2(GDF6): c.980C> A (p.Pro327His)single nucleotide variantPathogenicrs121909356GRCh37Chr 8, 97157179: 97157179

Expression for genes affiliated with Microphthalmia, Isolated 4

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

Pathways for genes affiliated with Microphthalmia, Isolated 4

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Pathways related to Microphthalmia, Isolated 4 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1

GO Terms for genes affiliated with Microphthalmia, Isolated 4

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Biological processes related to Microphthalmia, Isolated 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of MAPK cascadeGO:00434089.2GDF3, GDF6
2BMP signaling pathwayGO:00305099.1GDF3, GDF6
3growthGO:00400079.1GDF3, GDF6
4SMAD protein signal transductionGO:00603959.0GDF3, GDF6
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108628.8GDF3, GDF6

Sources for Microphthalmia, Isolated 4

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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