MCOPCB6
MCID: MCR110
MIFTS: 27

Microphthalmia with Coloboma 6, Digenic (MCOPCB6) 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 52 24
Microphthalmia, Isolated, with Coloboma, 6 70 27
Microphthalmia with Coloboma 6 52 12
 
Mcopcb6 24 70
Microphthalmia, Isolated, with Coloboma 6 68
Isolated Colobomatous Microphthalmia 6 70

Characteristics:

HPO:

64
microphthalmia with coloboma 6, digenic:
Inheritance: autosomal dominant inheritance, digenic inheritance

Classifications:



External Ids:

OMIM52 613703
MedGen37 C3150968

Summaries for Microphthalmia with Coloboma 6, Digenic

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UniProtKB/Swiss-Prot:70 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 elastofibroma dorsi and pyruvate dehydrogenase phosphatase deficiency, and has symptoms including visual impairment, coloboma and nystagmus. 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:52 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
1elastofibroma dorsi9.9GDF3, GDF6
2pyruvate dehydrogenase phosphatase deficiency9.9GDF3, GDF6
3mooren's ulcer9.9GDF3, GDF6
4juvenile myelomonocytic leukemia, somatic ptpn11-related9.8GDF3, GDF6
5cystinosis9.8GDF3, GDF6
6multifocal pattern dystrophy simulating fundus flavimaculatus9.8GDF3, GDF6
7cornelia de lange syndrome 59.7GDF3, GDF6

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



Diseases related to microphthalmia with coloboma 6, digenic

Symptoms & Phenotypes for Microphthalmia with Coloboma 6, Digenic

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Clinical features from OMIM:

613703

Human phenotypes related to Microphthalmia with Coloboma 6, Digenic:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 coloboma64 HP:0000589
3 nystagmus64 HP:0000639
4 bilateral microphthalmos64 HP:0007633
5 hypoplasia of the fovea64 HP:0007750
6 optic disc hypoplasia64 HP:0007766
7 abnormality of the temporal bone64 HP:0009911

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 627
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:

36
Eye, Retina, Bone

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:

70
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.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
1cell developmentGO:00484689.9GDF3, GDF6
2multicellular organism developmentGO:00072759.8GDF3, GDF6
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.8GDF3, GDF6
4regulation of apoptotic processGO:00429819.7GDF3, GDF6
5regulation of MAPK cascadeGO:00434089.6GDF3, GDF6
6SMAD protein signal transductionGO:00603959.1GDF3, GDF6

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.7GDF3, GDF6
2growth factor activityGO:00080839.6GDF3, GDF6
3transforming growth factor beta receptor bindingGO:00051609.1GDF3, GDF6

Sources for Microphthalmia with Coloboma 6, Digenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet