MCOP4
MCID: MCR109
MIFTS: 25

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 57 29 13 6 72
Mcop4 57 12 74
Microphthalmia, Isolated, Type 4 40
Isolated Clinical Anophthalmia 74
Microphthalmia, Isolated, 4 74
Isolated Microphthalmia 4 12

Characteristics:

HPO:

32
microphthalmia, isolated 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060836
MeSH 44 D008850
ICD10 33 Q11.0
MedGen 42 C2751307
UMLS 72 C2751307

Summaries for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot : 74 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). 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

Diseases in the Microphthalmia, Isolated 1 family:

Microphthalmia, Isolated 2 Microphthalmia, Isolated 3
Microphthalmia, Isolated 5 Microphthalmia, Isolated 4
Microphthalmia, Isolated 6 Microphthalmia, Isolated 7
Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, isolated 2 11.9
2 microphthalmia, isolated 3 11.9
3 microphthalmia, syndromic 9 11.3
4 fryns microphthalmia syndrome 9.9
5 microphthalmia 9.9

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:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 hallmark (90%) HP:0000568
2 coloboma 32 very rare (1%) HP:0000589
3 postaxial polydactyly 32 very rare (1%) HP:0100259
4 absent testis 32 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:

41
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. 8 71
19129173 2009
2
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 71
23307924 2013
3
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 71
18425797 2008
4
Microphthalmia/Anophthalmia/Coloboma Spectrum 71
20301552 2004
5
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research. 38
27785411 2016
6
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 38
3378363 1988

Variations for Microphthalmia, Isolated 4

ClinVar genetic disease variations for Microphthalmia, Isolated 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GDF6 NM_001001557.4(GDF6): c.758A> T (p.Gln253Leu) single nucleotide variant Pathogenic rs121909355 8:97157401-97157401 8:96145173-96145173
2 GDF6 NM_001001557.4(GDF6): c.980C> A (p.Pro327His) single nucleotide variant Pathogenic rs121909356 8:97157179-97157179 8:96144951-96144951
3 GDF6 NM_001001557.4(GDF6): c.746C> A (p.Ala249Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909352 8:97157413-97157413 8:96145185-96145185
4 GDF6 NM_001001557.4(GDF6): c.96_98GTC[1] (p.Ser34del) short repeat Likely benign rs141468446 8:97172820-97172822 8:96160592-96160594
5 GDF6 NM_001001557.4(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 8:97157223-97157223 8:96144995-96144995
6 GDF6 NM_001001557.4(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 8:97172666-97172666 8:96160438-96160438

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

74
# 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

GO Terms for Microphthalmia, Isolated 4

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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