CTRCT34
MCID: CTR097
MIFTS: 20

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 57 74 29 6
Cataract, Autosomal Recessive Congenital 3 57 74 13 72
Ctrct34 57 12 74
Catc3 57 12 74
Cataract 34, Multiple Types, with or Without Microcornea 57 74
Cataract 34 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 3; Catc3 57
Autosomal Recessive Congenital Cataract 3 12
Cataract, Multiple Types, Type 34 40
Cataract 34 Multiple Types 12

Classifications:



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Disease Ontology 12 DOID:0110230
MeSH 44 D002386
ICD10 33 Q12.0
MedGen 42 C2751822
UMLS 72 C2751822

Summaries for Cataract 34, Multiple Types

UniProtKB/Swiss-Prot : 74 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 : 57 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 29 FOXE3

Anatomical Context for Cataract 34, Multiple Types

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

41
Eye

Publications for Cataract 34, Multiple Types

Articles related to Cataract 34, Multiple Types:

# Title Authors PMID Year
1
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 8 71
27218149 2016
2
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. 8 71
17893665 2007

Variations for Cataract 34, Multiple Types

ClinVar genetic disease variations for Cataract 34, Multiple Types:

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

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

74
# Symbol AA change Variation ID SNP ID
1 FOXE3 p.Glu103Lys VAR_078112 rs105751873
2 FOXE3 p.Asn117Lys VAR_078113 rs105751873

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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