MCID: MCR108
MIFTS: 17

Microphthalmia, Isolated 7

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

Aliases & Classifications for Microphthalmia, Isolated 7

MalaCards integrated aliases for Microphthalmia, Isolated 7:

Name: Microphthalmia, Isolated 7 57 29 13 6 73
Mcop7 57 12 75
Microphthalmia, Isolated, Type 7 40
Microphthalmia, Isolated, 7 75
Isolated Microphthalmia 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 613704
Disease Ontology 12 DOID:0060838
ICD10 33 Q11.0
MedGen 42 C3150969
MeSH 44 D008850
SNOMED-CT via HPO 69 204108000 61142002
UMLS 73 C3150969

Summaries for Microphthalmia, Isolated 7

UniProtKB/Swiss-Prot : 75 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 and retina, 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
microphthalmia, unilateral


Clinical features from OMIM:

613704

Human phenotypes related to Microphthalmia, Isolated 7:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 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 29 GDF3

Anatomical Context for Microphthalmia, Isolated 7

MalaCards organs/tissues related to Microphthalmia, Isolated 7:

41
Eye, Retina

Publications for Microphthalmia, Isolated 7

Variations for Microphthalmia, Isolated 7

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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