MCID: MCR109
MIFTS: 29

Microphthalmia, Isolated 4 malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microphthalmia, Isolated 4

About this section

Aliases & Descriptions for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 50 12
Microphthalmia, Isolated, 4 68 25
 
Isolated Clinical Anophthalmia 68
Mcop4 68

Characteristics:

HPO:

62
microphthalmia, isolated 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613094
MedGen35 C2751307
MeSH37 D008850

Summaries for Microphthalmia, Isolated 4

About this section
UniProtKB/Swiss-Prot:68 Microphthalmia, isolated, 4: 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.

MalaCards based summary: Microphthalmia, Isolated 4, also known as microphthalmia, isolated, 4, is related to microphthalmia, isolated 2 and microphthalmia, isolated 3, and has symptoms including microphthalmia, coloboma and postaxial polydactyly. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (Growth Differentiation Factor 6), and among its related pathways is TGF-beta Signaling Pathway (sino). Affiliated tissues include eye, retina and testes.

Description from OMIM:50 613094

Related Diseases for Microphthalmia, Isolated 4

About this section

Graphical network of diseases related to Microphthalmia, Isolated 4:



Diseases related to microphthalmia, isolated 4

Symptoms for Microphthalmia, Isolated 4

About this section


Clinical features from OMIM:

613094

HPO human phenotypes related to Microphthalmia, Isolated 4:

id Description Frequency HPO Source Accession
1 microphthalmia hallmark (90%) HP:0000568
2 coloboma very rare (1%) HP:0000589
3 postaxial polydactyly very rare (1%) HP:0100259
4 aplasia of the testes HP:0010469

Drugs & Therapeutics for Microphthalmia, Isolated 4

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia, Isolated 4

Genetic Tests for Microphthalmia, Isolated 4

About this section

Genetic tests related to Microphthalmia, Isolated 4:

id Genetic test Affiliating Genes
1 Microphthalmia, Isolated 425

Anatomical Context for Microphthalmia, Isolated 4

About this section

MalaCards organs/tissues related to Microphthalmia, Isolated 4:

34
Eye, Retina, Testes

Animal Models for Microphthalmia, Isolated 4 or affiliated genes

About this section

Publications for Microphthalmia, Isolated 4

About this section

Variations for Microphthalmia, Isolated 4

About this section

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 4:

68
id Symbol AA change Variation ID SNP ID
1GDF6p.Ala249GluVAR_046903rs121909352
2GDF6p.Gln119ArgVAR_063025rs140579014
3GDF6p.Asp216GlyVAR_063026
4GDF6p.Gln253LeuVAR_063027rs121909355
5GDF6p.Pro327HisVAR_063028rs121909356

Clinvar genetic disease variations for Microphthalmia, Isolated 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
2GDF6NM_001001557.2(GDF6): c.758A> T (p.Gln253Leu)single nucleotide variantPathogenicrs121909355GRCh37Chr 8, 97157401: 97157401
3GDF6NM_001001557.2(GDF6): c.980C> A (p.Pro327His)single nucleotide variantPathogenicrs121909356GRCh37Chr 8, 97157179: 97157179

Expression for genes affiliated with Microphthalmia, Isolated 4

About this section
Search GEO for disease gene expression data for Microphthalmia, Isolated 4.

Pathways for genes affiliated with Microphthalmia, Isolated 4

About this section

Pathways related to Microphthalmia, Isolated 4 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1GDF3, GDF6

GO Terms for genes affiliated with Microphthalmia, Isolated 4

About this section

Biological processes related to Microphthalmia, Isolated 4 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, Isolated 4 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, Isolated 4

About this section
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