MCID: MCR109
MIFTS: 12

Microphthalmia, Isolated 4 malady

Genetic diseases (common) category

Summaries for Microphthalmia, Isolated 4

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MalaCards based summary: Microphthalmia, Isolated 4 and has symptoms including microphthalmos, coloboma and postaxial polydactyly. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (growth differentiation factor 6). Affiliated tissues include testes.

Description from OMIM:45 613094

Aliases & Classifications for Microphthalmia, Isolated 4

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Microphthalmia, Isolated 4, Aliases & Descriptions:

Name: Microphthalmia, Isolated 4 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 613094

Related Diseases for Microphthalmia, Isolated 4

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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 microphthalmos hallmark (90%) HP:0000568
2 coloboma very rare (1%) HP:0000589
3 postaxial polydactyly very rare (1%) HP:0100259
4 autosomal dominant inheritance HP:0000006
5 aplasia of the testes HP:0010469

Drugs & Therapeutics for Microphthalmia, Isolated 4

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia, Isolated 4

Search NIH Clinical Center for Microphthalmia, Isolated 4

Genetic Tests for Microphthalmia, Isolated 4

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Genetic tests related to Microphthalmia, Isolated 4:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 422

Anatomical Context for Microphthalmia, Isolated 4

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MalaCards organs/tissues related to Microphthalmia, Isolated 4:

31
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:

62
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903
2GDF6p.Gln119ArgVAR_063025rs140579014
3GDF6p.Asp216GlyVAR_063026
4GDF6p.Gln253LeuVAR_063027
5GDF6p.Pro327HisVAR_063028

Clinvar genetic disease variations for Microphthalmia, Isolated 4:

6
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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Compounds for genes affiliated with Microphthalmia, Isolated 4

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GO Terms for genes affiliated with Microphthalmia, Isolated 4

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Products for genes affiliated with Microphthalmia, Isolated 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Microphthalmia, Isolated 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet