CTRCT34
MCID: CTR097
MIFTS: 21

Cataract 34, Multiple Types (CTRCT34)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 34, Multiple Types

MalaCards integrated aliases for Cataract 34, Multiple Types:

Name: Cataract 34, Multiple Types 58 76 30 6
Cataract, Autosomal Recessive Congenital 3 58 76 13 74
Ctrct34 58 12 76
Catc3 58 12 76
Cataract 34, Multiple Types, with or Without Microcornea 58 76
Cataract 34 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 3; Catc3 58
Autosomal Recessive Congenital Cataract 3 12
Cataract 34 Multiple Types 12

Classifications:



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Disease Ontology 12 DOID:0110230
OMIM 58 612968
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C2751822
UMLS 74 C2751822

Summaries for Cataract 34, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 34, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 34, Multiple Types, also known as cataract, autosomal recessive congenital 3, is related to aortic aneurysm, familial thoracic 11. An important gene associated with Cataract 34, Multiple Types is FOXE3 (Forkhead Box E3). Affiliated tissues include eye.

Disease Ontology : 12 A cataract that has material basis in variation in the region 1p34.3-p32.2.

OMIM : 58 Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular. (612968)

Related Diseases for Cataract 34, Multiple Types

Symptoms & Phenotypes for Cataract 34, Multiple Types

Clinical features from OMIM:

612968

Drugs & Therapeutics for Cataract 34, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 34, Multiple Types

Genetic Tests for Cataract 34, Multiple Types

Genetic tests related to Cataract 34, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 34, Multiple Types 30 FOXE3

Anatomical Context for Cataract 34, Multiple Types

MalaCards organs/tissues related to Cataract 34, Multiple Types:

42
Eye

Publications for Cataract 34, Multiple Types

Articles related to Cataract 34, Multiple Types:

# Title Authors Year
1
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. ( 27218149 )
2016
2
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. ( 17893665 )
2007

Variations for Cataract 34, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 34, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Glu103Lys VAR_078112 rs105751873
2 FOXE3 p.Asn117Lys VAR_078113 rs105751873

ClinVar genetic disease variations for Cataract 34, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXE3 NM_012186.2(FOXE3): c.351C> G (p.Asn117Lys) single nucleotide variant Pathogenic rs1057518737 GRCh38 Chromosome 1, 47416666: 47416666
2 FOXE3 NM_012186.2(FOXE3): c.351C> G (p.Asn117Lys) single nucleotide variant Pathogenic rs1057518737 GRCh37 Chromosome 1, 47882338: 47882338
3 FOXE3 NM_012186.2(FOXE3): c.307G> A (p.Glu103Lys) single nucleotide variant Pathogenic rs1057518738 GRCh37 Chromosome 1, 47882294: 47882294
4 FOXE3 NM_012186.2(FOXE3): c.307G> A (p.Glu103Lys) single nucleotide variant Pathogenic rs1057518738 GRCh38 Chromosome 1, 47416622: 47416622

Expression for Cataract 34, Multiple Types

Search GEO for disease gene expression data for Cataract 34, Multiple Types.

Pathways for Cataract 34, Multiple Types

GO Terms for Cataract 34, Multiple Types

Sources for Cataract 34, Multiple Types

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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