MCOP4
MCID: MCR109
MIFTS: 23

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 58 30 13 6 74
Mcop4 58 12 76
Microphthalmia, Isolated, Type 4 41
Isolated Clinical Anophthalmia 76
Microphthalmia, Isolated, 4 76
Isolated Microphthalmia 4 12

Characteristics:

HPO:

33
microphthalmia, isolated 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060836
OMIM 58 613094
MeSH 45 D008850
ICD10 34 Q11.0
MedGen 43 C2751307
UMLS 74 C2751307

Summaries for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 613094

Related Diseases for Microphthalmia, Isolated 4

Diseases in the Microphthalmia, Isolated 5 family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 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 11.7
2 microphthalmia, isolated 3 11.7
3 microphthalmia, syndromic 9 11.1
4 fryns microphthalmia syndrome 9.9

Symptoms & Phenotypes for Microphthalmia, Isolated 4

Human phenotypes related to Microphthalmia, Isolated 4:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 hallmark (90%) HP:0000568
2 coloboma 33 very rare (1%) HP:0000589
3 postaxial polydactyly 33 very rare (1%) HP:0100259
4 absent testis 33 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 30 GDF6

Anatomical Context for Microphthalmia, Isolated 4

MalaCards organs/tissues related to Microphthalmia, Isolated 4:

42
Eye, Retina, Testis

Publications for Microphthalmia, Isolated 4

Articles related to Microphthalmia, Isolated 4:

# Title Authors Year
1
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. ( 3378363 )
1988

Variations for Microphthalmia, Isolated 4

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

76
# 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

ClinVar genetic disease variations for Microphthalmia, Isolated 4:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.746C> A (p.Ala249Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909352 GRCh37 Chromosome 8, 97157413: 97157413
2 GDF6 NM_001001557.3(GDF6): c.746C> A (p.Ala249Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909352 GRCh38 Chromosome 8, 96145185: 96145185
3 GDF6 NM_001001557.3(GDF6): c.758A> T (p.Gln253Leu) single nucleotide variant Pathogenic rs121909355 GRCh37 Chromosome 8, 97157401: 97157401
4 GDF6 NM_001001557.3(GDF6): c.758A> T (p.Gln253Leu) single nucleotide variant Pathogenic rs121909355 GRCh38 Chromosome 8, 96145173: 96145173
5 GDF6 NM_001001557.3(GDF6): c.980C> A (p.Pro327His) single nucleotide variant Pathogenic rs121909356 GRCh37 Chromosome 8, 97157179: 97157179
6 GDF6 NM_001001557.3(GDF6): c.980C> A (p.Pro327His) single nucleotide variant Pathogenic rs121909356 GRCh38 Chromosome 8, 96144951: 96144951
7 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh37 Chromosome 8, 97157223: 97157223
8 GDF6 NM_001001557.3(GDF6): c.936G> C (p.Ser312=) single nucleotide variant Benign/Likely benign rs148861809 GRCh38 Chromosome 8, 96144995: 96144995
9 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh38 Chromosome 8, 96160438: 96160438
10 GDF6 NM_001001557.3(GDF6): c.255G> T (p.Pro85=) single nucleotide variant Benign/Likely benign rs112296824 GRCh37 Chromosome 8, 97172666: 97172666
11 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh37 Chromosome 8, 97172820: 97172822
12 GDF6 NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del) deletion Likely benign rs141468446 GRCh38 Chromosome 8, 96160592: 96160594

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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