MCOPCB6
MCID: MCR110
MIFTS: 27

Microphthalmia with Coloboma 6, Digenic (MCOPCB6) malady

Categories: Genetic diseases

Aliases & Classifications for Microphthalmia with Coloboma 6, Digenic

Aliases & Descriptions for Microphthalmia with Coloboma 6, Digenic:

Name: Microphthalmia with Coloboma 6, Digenic 54 24
Microphthalmia, Isolated, with Coloboma, 6 66 29
Microphthalmia with Coloboma 6 54 13
Mcopcb6 24 66
Microphthalmia, Isolated, with Coloboma 6 69
Isolated Colobomatous Microphthalmia 6 66

Characteristics:

HPO:

32
microphthalmia with coloboma 6, digenic:
Inheritance autosomal dominant inheritance digenic inheritance


Classifications:



External Ids:

OMIM 54 613703
MedGen 40 C3150968

Summaries for Microphthalmia with Coloboma 6, Digenic

UniProtKB/Swiss-Prot : 66 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 nystagmus, visual impairment and hypoplasia of the fovea. 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: 613703

Related Diseases for Microphthalmia with Coloboma 6, Digenic

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

id Related Disease Score Top Affiliating Genes
1 elastofibroma dorsi 9.9 GDF3 GDF6
2 pyruvate dehydrogenase phosphatase deficiency 9.9 GDF3 GDF6
3 mooren's ulcer 9.9 GDF3 GDF6
4 juvenile myelomonocytic leukemia, somatic ptpn11-related 9.8 GDF3 GDF6
5 cystinosis 9.8 GDF3 GDF6
6 multifocal pattern dystrophy simulating fundus flavimaculatus 9.8 GDF3 GDF6
7 cornelia de lange syndrome 5 9.7 GDF3 GDF6

Graphical network of the top 20 diseases related to Microphthalmia with Coloboma 6, Digenic:



Diseases related to Microphthalmia with Coloboma 6, Digenic

Symptoms & Phenotypes for Microphthalmia with Coloboma 6, Digenic

Clinical features from OMIM:

613703

Human phenotypes related to Microphthalmia with Coloboma 6, Digenic:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 hypoplasia of the fovea 32 HP:0007750
4 coloboma 32 HP:0000589
5 optic disc hypoplasia 32 HP:0007766
6 bilateral microphthalmos 32 HP:0007633
7 abnormality of the temporal bone 32 HP:0009911

Drugs & Therapeutics for Microphthalmia with Coloboma 6, Digenic

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

Genetic Tests for Microphthalmia with Coloboma 6, Digenic

Genetic tests related to Microphthalmia with Coloboma 6, Digenic:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated, with Coloboma 6 29
2 Microphthalmia with Coloboma 6, Digenic 24 GDF6

Anatomical Context for Microphthalmia with Coloboma 6, Digenic

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

39
Eye, Retina, Bone

Publications for Microphthalmia with Coloboma 6, Digenic

Variations for Microphthalmia with Coloboma 6, Digenic

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

66
id Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg266Cys VAR_065148 rs140926412
2 GDF3 p.Arg274Trp VAR_065149 rs387906946

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic rs387906794 GRCh37 Chromosome 8, 97157564: 97157564
2 GDF3 NM_020634.2(GDF3): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906946 GRCh37 Chromosome 12, 7842749: 7842749

Expression for Microphthalmia with Coloboma 6, Digenic

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

Pathways for Microphthalmia with Coloboma 6, Digenic

GO Terms for Microphthalmia with Coloboma 6, Digenic

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.37 GDF3 GDF6
2 regulation of apoptotic process GO:0042981 9.32 GDF3 GDF6
3 SMAD protein signal transduction GO:0060395 9.26 GDF3 GDF6
4 cell development GO:0048468 9.16 GDF3 GDF6
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.96 GDF3 GDF6
6 regulation of MAPK cascade GO:0043408 8.62 GDF3 GDF6

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.16 GDF3 GDF6
2 growth factor activity GO:0008083 8.96 GDF3 GDF6
3 transforming growth factor beta receptor binding GO:0005160 8.62 GDF3 GDF6

Sources for Microphthalmia with Coloboma 6, Digenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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