MCID: MCR110
MIFTS: 21

Microphthalmia with Coloboma 6, Digenic malady

Genetic diseases (common) category

Summaries for Microphthalmia with Coloboma 6, Digenic

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MalaCards based summary: Microphthalmia with Coloboma 6, Digenic, also known as microphthalmia, isolated, with coloboma 6, is related to microphthalmia and coloboma, and has symptoms including coloboma, bilateral microphthalmos and abnormality of the temporal bone. An important gene associated with Microphthalmia with Coloboma 6, Digenic is GDF6 (growth differentiation factor 6), and among its related pathways is TGF-beta Signaling Pathway. Affiliated tissues include bone.

Description from OMIM:45 613703

Aliases & Classifications for Microphthalmia with Coloboma 6, Digenic

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Microphthalmia with Coloboma 6, Digenic, Aliases & Descriptions:

Name: Microphthalmia with Coloboma 6, Digenic 45
Microphthalmia, Isolated, with Coloboma 6 45 22
 
Microphthalmia with Coloboma 6 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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
1microphthalmia10.1GDF6
2coloboma10.0GDF6
3klippel-feil syndrome9.8GDF6, GDF3

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 9)
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 autosomal dominant inheritance HP:0000006
5 visual impairment HP:0000505
6 nystagmus HP:0000639
7 hypoplasia of the fovea HP:0007750
8 optic disc hypoplasia HP:0007766
9 digenic inheritance HP:0010984

Drugs & Therapeutics for Microphthalmia with Coloboma 6, Digenic

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia with Coloboma 6, Digenic

Search 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 622

Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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

31
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:

62
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412
2GDF3p.Arg274TrpVAR_065149

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773
2GDF3NM_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 pathways (with members indented)ScoreTop Affiliating Genes
19.1GDF6, GDF3

Compounds 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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Cellular components related to Microphthalmia with Coloboma 6, Digenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056159.1GDF6, GDF3

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

idNameGO IDScoreTop Affiliating Genes
1growthGO:00400079.1GDF6, GDF3

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.1GDF6, GDF3
2growth factor activityGO:00080838.8GDF6, GDF3

Products for genes affiliated with Microphthalmia with Coloboma 6, Digenic

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  • Antibodies
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Sources for Microphthalmia with Coloboma 6, Digenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet