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 56 29 13 6 71
Mcop7 56 12 73
Microphthalmia, Isolated, Type 7 39
Microphthalmia, Isolated, 7 73
Isolated Microphthalmia 7 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
microphthalmia, isolated 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060838
OMIM 56 613704
OMIM Phenotypic Series 56 PS251600
MeSH 43 D008850
ICD10 32 Q11.0
MedGen 41 C3150969
SNOMED-CT via HPO 68 204108000 263681008 61142002
UMLS 71 C3150969

Summaries for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 613704 PS251600

Related Diseases for Microphthalmia, Isolated 7

Symptoms & Phenotypes for Microphthalmia, Isolated 7

Human phenotypes related to Microphthalmia, Isolated 7:

31
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 HP:0000568

Symptoms via clinical synopsis from OMIM:

56
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 29 GDF3

Anatomical Context for Microphthalmia, Isolated 7

MalaCards organs/tissues related to Microphthalmia, Isolated 7:

40
Eye, Retina, Bone

Publications for Microphthalmia, Isolated 7

Articles related to Microphthalmia, Isolated 7:

# Title Authors PMID Year
1
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 56 6
19864492 2010

Variations for Microphthalmia, Isolated 7

ClinVar genetic disease variations for Microphthalmia, Isolated 7:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF3 NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)SNV Pathogenic 30592 rs387906945 12:7842655-7842655 12:7690059-7690059
2 GDF3 NM_020634.3(GDF3):c.584G>A (p.Arg195Gln)SNV Pathogenic 30593 rs146973734 12:7842985-7842985 12:7690389-7690389

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

73
# Symbol AA change Variation ID SNP ID
1 GDF3 p.Arg195Gln VAR_065147 rs146973734
2 GDF3 p.Leu305Pro VAR_065150 rs387906945

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
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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