MCID: MCR110
MIFTS: 27

Microphthalmia with Coloboma 6, Digenic malady

Category: Genetic diseases (common)

Aliases & Classifications for Microphthalmia with Coloboma 6, Digenic

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Aliases & Descriptions for Microphthalmia with Coloboma 6, Digenic:

Name: Microphthalmia with Coloboma 6, Digenic 49
Microphthalmia, Isolated, with Coloboma, 6 67 24
Microphthalmia with Coloboma 6 49 11
 
Microphthalmia, Isolated, with Coloboma 6 65
Isolated Colobomatous Microphthalmia 6 67
Mcopcb6 67

Characteristics:

HPO:

61
microphthalmia with coloboma 6, digenic:
Inheritance: autosomal dominant inheritance, digenic inheritance


Classifications:



External Ids:

OMIM49 613703
MedGen34 C3150968
UMLS65 C3150968

Summaries for Microphthalmia with Coloboma 6, Digenic

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UniProtKB/Swiss-Prot:67 Microphthalmia, isolated, with coloboma, 6: 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. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary: Microphthalmia with Coloboma 6, Digenic, also known as microphthalmia, isolated, with coloboma, 6, is related to polyvalvular heart disease syndrome and leber congenital amaurosis 17, and has symptoms including coloboma, bilateral microphthalmos and abnormality of the temporal bone. An important gene associated with Microphthalmia with Coloboma 6, Digenic is GDF3 (Growth Differentiation Factor 3), and among its related pathways is TGF-beta Signaling Pathway (sino). Affiliated tissues include eye, retina and bone.

Description from OMIM:49 613703

Related Diseases for Microphthalmia with Coloboma 6, Digenic

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Graphical network of diseases related to Microphthalmia with Coloboma 6, Digenic:



Diseases related to microphthalmia with coloboma 6, digenic

Symptoms for Microphthalmia with Coloboma 6, Digenic

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Clinical features from OMIM:

613703

HPO human phenotypes related to Microphthalmia with Coloboma 6, Digenic:

(show all 7)
id Description Frequency HPO Source Accession
1 coloboma hallmark (90%) HP:0000589
2 bilateral microphthalmos hallmark (90%) HP:0007633
3 abnormality of the temporal bone very rare (1%) HP:0009911
4 visual impairment HP:0000505
5 nystagmus HP:0000639
6 hypoplasia of the fovea HP:0007750
7 optic disc hypoplasia HP:0007766

Drugs & Therapeutics for Microphthalmia with Coloboma 6, Digenic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia with Coloboma 6, Digenic

Genetic Tests for Microphthalmia with Coloboma 6, Digenic

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Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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MalaCards organs/tissues related to Microphthalmia with Coloboma 6, Digenic:

33
Eye, Retina, Bone, Heart

Animal Models for Microphthalmia with Coloboma 6, Digenic or affiliated genes

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Publications for Microphthalmia with Coloboma 6, Digenic

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Variations for Microphthalmia with Coloboma 6, Digenic

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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia with Coloboma 6, Digenic:

67
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412
2GDF3p.Arg274TrpVAR_065149

Clinvar genetic disease variations for Microphthalmia with Coloboma 6, Digenic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
2GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773
3GDF3NM_020634.1(GDF3): c.820C> T (p.Arg274Trp)single nucleotide variantPathogenicrs387906946GRCh37Chr 12, 7842749: 7842749

Expression for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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Search GEO for disease gene expression data for Microphthalmia with Coloboma 6, Digenic.

Pathways for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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Pathways related to Microphthalmia with Coloboma 6, Digenic according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1GDF3, GDF6

GO Terms for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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Biological processes related to Microphthalmia with Coloboma 6, Digenic 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 with Coloboma 6, Digenic

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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