MCID: MCR110
MIFTS: 29

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 50
Microphthalmia, Isolated, with Coloboma, 6 68 25
Microphthalmia with Coloboma 6 50 12
 
Isolated Colobomatous Microphthalmia 6 68
Mcopcb6 68

Characteristics:

HPO:

62
microphthalmia with coloboma 6, digenic:
Inheritance: autosomal dominant inheritance, digenic inheritance


Classifications:



External Ids:

OMIM50 613703
MedGen35 C3150968

Summaries for Microphthalmia with Coloboma 6, Digenic

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UniProtKB/Swiss-Prot:68 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 virus-associated trichodysplasia spinulosa 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:50 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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Genetic tests related to Microphthalmia with Coloboma 6, Digenic:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 625

Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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

34
Eye, Retina, Bone

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:

68
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412
2GDF3p.Arg274TrpVAR_065149rs387906946

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
1SMAD protein signal transductionGO:00603959.5GDF3, GDF6
2growthGO:00400079.4GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3GDF3, GDF6
4cell developmentGO:00484689.3GDF3, GDF6
5regulation of MAPK cascadeGO:00434089.1GDF3, GDF6
6regulation of apoptotic processGO:00429818.8GDF3, GDF6

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:00051609.6GDF3, GDF6
2growth factor activityGO:00080839.1GDF3, GDF6
3cytokine activityGO:00051258.8GDF3, GDF6

Sources for Microphthalmia with Coloboma 6, Digenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet