MCID: MCR108
MIFTS: 17

Microphthalmia, Isolated 7

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

Aliases & Classifications for Microphthalmia, Isolated 7

MalaCards integrated aliases for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 53 28 13 69
Mcop7 53 12 71
Microphthalmia, Isolated, 7 71
Isolated Microphthalmia 7 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 53 613704
Disease Ontology 12 DOID:0060838
ICD10 32 Q11.0
MedGen 39 C3150969
MeSH 41 D008850
SNOMED-CT via HPO 65 204108000 61142002
UMLS 69 C3150969

Summaries for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot : 71 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, and has symptoms including microphthalmia An important gene associated with Microphthalmia, Isolated 7 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include eye and retina.

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
microphthalmia, unilateral


Clinical features from OMIM:

613704

Human phenotypes related to Microphthalmia, Isolated 7:

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

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 28 GDF3

Anatomical Context for Microphthalmia, Isolated 7

MalaCards organs/tissues related to Microphthalmia, Isolated 7:

38
Eye, Retina

Publications for Microphthalmia, Isolated 7

Variations for Microphthalmia, Isolated 7

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

71
# 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.584G> A (p.Arg195Gln) single nucleotide variant Pathogenic rs146973734 GRCh37 Chromosome 12, 7842985: 7842985

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
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
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