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 51 24
Microphthalmia, Isolated, with Coloboma, 6 69 26
Microphthalmia with Coloboma 6 51 12
 
Mcopcb6 24 69
Microphthalmia, Isolated, with Coloboma 6 67
Isolated Colobomatous Microphthalmia 6 69

Characteristics:

HPO:

63
microphthalmia with coloboma 6, digenic:
Inheritance: autosomal dominant inheritance, digenic inheritance

Classifications:



External Ids:

OMIM51 613703
MedGen36 C3150968

Summaries for Microphthalmia with Coloboma 6, Digenic

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

Description from OMIM:51 613703

Related Diseases for Microphthalmia with Coloboma 6, Digenic

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Diseases related to Microphthalmia with Coloboma 6, Digenic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1virus-associated trichodysplasia spinulosa9.7GDF3, GDF6
2leber congenital amaurosis 179.7GDF3, GDF6
3microphthalmia, isolated 49.7GDF3, GDF6
4pyruvate dehydrogenase phosphatase deficiency9.7GDF3, GDF6
5ispd-related muscle diseases9.6GDF3, GDF6
6coloboma of eyelid9.6GDF3, GDF6
7purulent acute otitis media9.5GDF3, GDF6
8cornelia de lange syndrome 59.5GDF3, GDF6
9partial optic atrophy9.3GDF3, GDF6

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

Human phenotypes related to Microphthalmia with Coloboma 6, Digenic:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 coloboma63 hallmark (90%) HP:0000589
2 bilateral microphthalmos63 hallmark (90%) HP:0007633
3 abnormality of the temporal bone63 very rare (1%) HP:0009911
4 visual impairment63 HP:0000505
5 nystagmus63 HP:0000639
6 hypoplasia of the fovea63 HP:0007750
7 optic disc hypoplasia63 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 626
2 Microphthalmia with Coloboma 6, Digenic24 GDF6

Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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

35
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:

69
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_001001557.3(GDF6): c.595G> A (p.Ala199Thr)SNVPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
2GDF3NM_020634.2(GDF3): c.796C> T (p.Arg266Cys)SNVPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773
3GDF3NM_020634.2(GDF3): c.820C> T (p.Arg274Trp)SNVPathogenicrs387906946GRCh37Chr 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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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:00400079.5GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4GDF3, GDF6
4cell developmentGO:00484689.1GDF3, 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
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