MCID: MCR109
MIFTS: 22

Microphthalmia, Isolated 4 malady

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

Aliases & Classifications for Microphthalmia, Isolated 4

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Aliases & Descriptions for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 51 24 12 67
Mcop4 11 24 69
Microphthalmia, Isolated, 4 69 26
 
Isolated Microphthalmia 4 11 24
Isolated Clinical Anophthalmia 69

Characteristics:

HPO:

63
microphthalmia, isolated 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 613094
Disease Ontology11 DOID:0060836
ICD1029 Q11.0
MedGen36 C2751307
MeSH38 D008850

Summaries for Microphthalmia, Isolated 4

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UniProtKB/Swiss-Prot:69 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 mcop4, 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). Affiliated tissues include eye, retina and testes.

Disease Ontology:11 A microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22.

Description from OMIM:51 613094

Related Diseases for Microphthalmia, Isolated 4

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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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, isolated 211.1
2microphthalmia, isolated 311.1
3microphthalmia, isolated 110.9

Symptoms for Microphthalmia, Isolated 4

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Clinical features from OMIM:

613094

Human phenotypes related to Microphthalmia, Isolated 4:

 63
id Description HPO Frequency HPO Source Accession
1 microphthalmia63 hallmark (90%) HP:0000568
2 coloboma63 very rare (1%) HP:0000589
3 postaxial polydactyly63 very rare (1%) HP:0100259
4 aplasia of the testes63 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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Genetic tests related to Microphthalmia, Isolated 4:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 426
2 Isolated Microphthalmia 424 GDF6

Anatomical Context for Microphthalmia, Isolated 4

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MalaCards organs/tissues related to Microphthalmia, Isolated 4:

35
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:

69
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Gln119ArgVAR_063025rs140579014
3GDF6p.Asp216GlyVAR_063026
4GDF6p.Gln253LeuVAR_063027rs121909355
5GDF6p.Pro327HisVAR_063028rs121909356

Clinvar genetic disease variations for Microphthalmia, Isolated 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.3(GDF6): c.746C> A (p.Ala249Glu)SNVPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.3(GDF6): c.758A> T (p.Gln253Leu)SNVPathogenicrs121909355GRCh37Chr 8, 97157401: 97157401
3GDF6NM_001001557.3(GDF6): c.980C> A (p.Pro327His)SNVPathogenicrs121909356GRCh37Chr 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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GO Terms for genes affiliated with Microphthalmia, Isolated 4

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Sources for Microphthalmia, Isolated 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet