MCOP7
MCID: MCR108
MIFTS: 18

Microphthalmia, Isolated 7 (MCOP7)

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

Aliases & Classifications for Microphthalmia, Isolated 7

MalaCards integrated aliases for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 58 30 13 6 74
Mcop7 58 12 76
Microphthalmia, Isolated, Type 7 41
Microphthalmia, Isolated, 7 76
Isolated Microphthalmia 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 probands (last curated july 2017)
reduced penetrance shown in 1 family


Classifications:



External Ids:

Disease Ontology 12 DOID:0060838
OMIM 58 613704
MeSH 45 D008850
ICD10 34 Q11.0
MedGen 43 C3150969
SNOMED-CT via HPO 70 204108000 61142002
UMLS 74 C3150969

Summaries for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot : 76 Microphthalmia, isolated, 7: 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 7, is also known as mcop7. An important gene associated with Microphthalmia, Isolated 7 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include eye, retina and bone, and related phenotype is microphthalmia.

Disease Ontology : 12 A microphthalmia characterized by unilateral microphthalmia that has material basis in caused by mutation in the GDF3 gene on chromosome 12p13.

Description from OMIM: 613704

Related Diseases for Microphthalmia, Isolated 7

Symptoms & Phenotypes for Microphthalmia, Isolated 7

Human phenotypes related to Microphthalmia, Isolated 7:

33
# Description HPO Frequency HPO Source Accession
1 microphthalmia 33 HP:0000568

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
microphthalmia, unilateral

Clinical features from OMIM:

613704

Drugs & Therapeutics for Microphthalmia, Isolated 7

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 7

Genetic Tests for Microphthalmia, Isolated 7

Genetic tests related to Microphthalmia, Isolated 7:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 7 30 GDF3

Anatomical Context for Microphthalmia, Isolated 7

MalaCards organs/tissues related to Microphthalmia, Isolated 7:

42
Eye, Retina, Bone

Publications for Microphthalmia, Isolated 7

Articles related to Microphthalmia, Isolated 7:

# Title Authors Year
1
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. ( 19864492 )
2010

Variations for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 7:

76
# Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg195Gln VAR_065147 rs146973734
2 GDF3 p.Leu305Pro VAR_065150 rs387906945

ClinVar genetic disease variations for Microphthalmia, Isolated 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF3 NM_020634.2(GDF3): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs387906945 GRCh37 Chromosome 12, 7842655: 7842655
2 GDF3 NM_020634.2(GDF3): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs387906945 GRCh38 Chromosome 12, 7690059: 7690059
3 GDF3 NM_020634.2(GDF3): c.584G> A (p.Arg195Gln) single nucleotide variant Pathogenic rs146973734 GRCh37 Chromosome 12, 7842985: 7842985
4 GDF3 NM_020634.2(GDF3): c.584G> A (p.Arg195Gln) single nucleotide variant Pathogenic rs146973734 GRCh38 Chromosome 12, 7690389: 7690389

Expression for Microphthalmia, Isolated 7

Search GEO for disease gene expression data for Microphthalmia, Isolated 7.

Pathways for Microphthalmia, Isolated 7

GO Terms for Microphthalmia, Isolated 7

Sources for Microphthalmia, Isolated 7

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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