MCOP4
MCID: MCR109
MIFTS: 34

Microphthalmia, Isolated 4 (MCOP4)

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

Aliases & Classifications for Microphthalmia, Isolated 4

MalaCards integrated aliases for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 56 29 13 6 71
Mcop4 56 12 73
Isolated Microphthalmia 4 12 15
Microphthalmia, Isolated, Type 4 39
Isolated Clinical Anophthalmia 73
Microphthalmia, Isolated, 4 73

Characteristics:

HPO:

31
microphthalmia, isolated 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060836
OMIM 56 613094
OMIM Phenotypic Series 56 PS251600
MeSH 43 D008850
ICD10 32 Q11.0
MedGen 41 C2751307
UMLS 71 C2751307

Summaries for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot : 73 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 mcop4, is related to microphthalmia, isolated 2 and microphthalmia, isolated 3. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are PEDF Induced Signaling and Phospholipase-C Pathway. Affiliated tissues include eye, retina and testis, and related phenotypes are microphthalmia and coloboma

Disease Ontology : 12 A microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22.

More information from OMIM: 613094 PS251600

Related Diseases for Microphthalmia, Isolated 4

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 4:



Diseases related to Microphthalmia, Isolated 4

Symptoms & Phenotypes for Microphthalmia, Isolated 4

Human phenotypes related to Microphthalmia, Isolated 4:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 hallmark (90%) HP:0000568
2 coloboma 31 very rare (1%) HP:0000589
3 postaxial polydactyly 31 very rare (1%) HP:0100259
4 absent testis 31 HP:0010469

Clinical features from OMIM:

613094

Drugs & Therapeutics for Microphthalmia, Isolated 4

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 4

Genetic Tests for Microphthalmia, Isolated 4

Genetic tests related to Microphthalmia, Isolated 4:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 4 29 GDF6

Anatomical Context for Microphthalmia, Isolated 4

MalaCards organs/tissues related to Microphthalmia, Isolated 4:

40
Eye, Retina, Testis

Publications for Microphthalmia, Isolated 4

Articles related to Microphthalmia, Isolated 4:

# Title Authors PMID Year
1
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 56 6
19129173 2009
2
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
3
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008
4
Microphthalmia/Anophthalmia/Coloboma Spectrum 6
20301552 2004
5
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 61
27785411 2016
6
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 61
3378363 1988

Variations for Microphthalmia, Isolated 4

ClinVar genetic disease variations for Microphthalmia, Isolated 4:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF6 NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)SNV Pathogenic 8375 rs121909355 8:97157401-97157401 8:96145173-96145173
2 GDF6 NM_001001557.4(GDF6):c.980C>A (p.Pro327His)SNV Pathogenic 8376 rs121909356 8:97157179-97157179 8:96144951-96144951
3 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)SNV Conflicting interpretations of pathogenicity 8371 rs121909352 8:97157413-97157413 8:96145185-96145185
4 GDF6 NM_001001557.4(GDF6):c.936G>C (p.Ser312=)SNV Benign/Likely benign 256851 rs148861809 8:97157223-97157223 8:96144995-96144995

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

73
# Symbol AA change Variation ID SNP ID
1 GDF6 p.Ala249Glu VAR_046903 rs121909352
2 GDF6 p.Gln119Arg VAR_063025 rs140579014
3 GDF6 p.Asp216Gly VAR_063026
4 GDF6 p.Gln253Leu VAR_063027 rs121909355
5 GDF6 p.Pro327His VAR_063028 rs121909356

Expression for Microphthalmia, Isolated 4

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

Pathways for Microphthalmia, Isolated 4

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 GDF7 GDF6 GDF5 BMP8A
2
Show member pathways
12.52 GDF6 GDF5 BMP8A
3
Show member pathways
12.49 GDF6 GDF5 BMP8A
4
Show member pathways
12.12 GDF6 GDF5 BMP8A
5
Show member pathways
11.84 GDF6 GDF5 BMP8A
6
Show member pathways
11.64 GDF6 GDF5 BMP8A
7 11.44 GDF7 GDF6 GDF5 BMP8A
8 11.02 GDF6 GDF5 BMP8A
9 10.9 GDF7 GDF6 GDF5 BMP8A
10 10.48 GDF6 GDF5 BMP8A

GO Terms for Microphthalmia, Isolated 4

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 GDF7 GDF6 GDF5 BMP8A
2 extracellular region GO:0005576 9.02 PAEP GDF7 GDF6 GDF5 BMP8A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.62 GDF7 GDF6 GDF5 BMP8A
2 positive regulation of neuron differentiation GO:0045666 9.58 GDF7 GDF6 GDF5
3 regulation of MAPK cascade GO:0043408 9.56 GDF7 GDF6 GDF5 BMP8A
4 BMP signaling pathway GO:0030509 9.54 GDF7 GDF6 GDF5
5 cartilage development GO:0051216 9.49 GDF5 BMP8A
6 positive regulation of chondrocyte differentiation GO:0032332 9.48 GDF6 GDF5
7 activin receptor signaling pathway GO:0032924 9.46 GDF7 GDF6
8 SMAD protein signal transduction GO:0060395 9.46 GDF7 GDF6 GDF5 BMP8A
9 pathway-restricted SMAD protein phosphorylation GO:0060389 9.43 GDF7 GDF6
10 cell development GO:0048468 9.26 GDF7 GDF6 GDF5 BMP8A
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 8.92 GDF7 GDF6 GDF5 BMP8A

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 GDF7 GDF6 GDF5 BMP8A
2 growth factor activity GO:0008083 9.26 GDF7 GDF6 GDF5 BMP8A
3 transforming growth factor beta receptor binding GO:0005160 8.92 GDF7 GDF6 GDF5 BMP8A

Sources for Microphthalmia, Isolated 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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