CTRCT34
MCID: CTR097
MIFTS: 29

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 73 29 6
Cataract, Autosomal Recessive Congenital 3 57 73 13 71
Ctrct34 57 12 73
Catc3 57 12 73
Cataract 34, Multiple Types, with or Without Microcornea 57 73
Cataract 34 Multiple Types 12 15
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 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110230
OMIM® 57 612968
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C2751822
UMLS 71 C2751822

Summaries for Cataract 34, Multiple Types

UniProtKB/Swiss-Prot : 73 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 and lens disease. An important gene associated with Cataract 34, Multiple Types is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways are Eicosanoid Synthesis and Aflatoxin activation and detoxification. 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) (Updated 05-Mar-2021)

Related Diseases for Cataract 34, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 34, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 11 10.3 LINC01389 FOXE3
2 lens disease 10.1 GAPDH FOXE3 ACTB
3 glutathionuria 10.1 GGTLC3 GGT2 GGT1
4 cardiomyopathy, familial hypertrophic, 2 10.1 GAPDH ACTB
5 psoriasis 13 10.0 HPRT1 GAPDH ACTB
6 cholestasis, benign recurrent intrahepatic, 1 10.0 GGTLC3 GGT2 GGT1
7 retinitis pigmentosa 23 10.0 HPRT1 GAPDH ACTB
8 x-linked recessive disease 10.0 HPRT1 GAPDH ACTB
9 actinomycosis 10.0 GAPDH ACTB
10 x-linked monogenic disease 10.0 HPRT1 GAPDH ACTB
11 loeys-dietz syndrome 2 9.9 GGTLC3 GGT2 GGT1 GAPDH ACTB
12 loeys-dietz syndrome 9.9 GGTLC3 GGT2 GGT1 GAPDH ACTB
13 anterior segment dysgenesis 9.9 LINC01389 HMX1 FOXE3
14 contractural arachnodactyly, congenital 9.9 GGTLC3 GGT2 GGT1 GAPDH ACTB
15 distal arthrogryposis 9.9 GGTLC3 GGT2 GGT1 GAPDH ACTB
16 cataract 4, multiple types 9.7 HPRT1 GGTLC3 GGT2 GGT1 GAPDH ACTB

Graphical network of the top 20 diseases related to Cataract 34, Multiple Types:



Diseases related to Cataract 34, Multiple Types

Symptoms & Phenotypes for Cataract 34, Multiple Types

Clinical features from OMIM®:

612968 (Updated 05-Mar-2021)

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:

40
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. 6 57
27218149 2016
2
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. 6 57
17893665 2007

Variations for Cataract 34, Multiple Types

ClinVar genetic disease variations for Cataract 34, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXE3 NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys) SNV Pathogenic 372170 rs1057518738 1:47882294-47882294 1:47416622-47416622
2 FOXE3 NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) SNV Pathogenic 372169 rs1057518737 1:47882338-47882338 1:47416666-47416666

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

73
# 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

Pathways related to Cataract 34, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.34 GGT2 GGT1
2 9.98 GGT2 GGT1

GO Terms for Cataract 34, Multiple Types

Biological processes related to Cataract 34, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zymogen activation GO:0031638 9.32 GGT2 GGT1
2 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
3 peptide modification GO:0031179 9.16 GGT2 GGT1
4 glutathione catabolic process GO:0006751 9.13 GGTLC3 GGT2 GGT1
5 leukotriene D4 biosynthetic process GO:1901750 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Cataract 34, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 9.55 TMEM205 TCTA SPCS1 GGTLC3 DISP2
2 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
3 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Cataract 34, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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