MCID: MCR109
MIFTS: 22

Microphthalmia, Isolated 4

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

Aliases & Classifications for Microphthalmia, Isolated 4

MalaCards integrated aliases for Microphthalmia, Isolated 4:

Name: Microphthalmia, Isolated 4 53 28 13 69
Mcop4 53 12 71
Isolated Clinical Anophthalmia 71
Microphthalmia, Isolated, 4 71
Isolated Microphthalmia 4 12

Characteristics:

HPO:

31
microphthalmia, isolated 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613094
Disease Ontology 12 DOID:0060836
ICD10 32 Q11.0
MedGen 39 C2751307
MeSH 41 D008850
UMLS 69 C2751307

Summaries for Microphthalmia, Isolated 4

UniProtKB/Swiss-Prot : 71 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 3 and microphthalmia, isolated 2, and has symptoms including microphthalmia, coloboma and absent testis. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include eye, retina and testis.

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 2 family:

Microphthalmia, Isolated 1 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 3 11.2
2 microphthalmia, isolated 2 11.2
3 microphthalmia, syndromic 9 11.0

Symptoms & Phenotypes for Microphthalmia, Isolated 4

Clinical features from OMIM:

613094

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 absent testis 31 HP:0010469
4 postaxial polydactyly 31 very rare (1%) HP:0100259

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 28 GDF6

Anatomical Context for Microphthalmia, Isolated 4

MalaCards organs/tissues related to Microphthalmia, Isolated 4:

38
Eye, Retina, Testis

Publications for Microphthalmia, Isolated 4

Variations for Microphthalmia, Isolated 4

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.758A> T (p.Gln253Leu) single nucleotide variant Pathogenic rs121909355 GRCh37 Chromosome 8, 97157401: 97157401
2 GDF6 NM_001001557.3(GDF6): c.980C> A (p.Pro327His) single nucleotide variant Pathogenic rs121909356 GRCh37 Chromosome 8, 97157179: 97157179

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....