CTRCT34
MCID: CTR097
MIFTS: 31

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 56 73 29 6
Cataract, Autosomal Recessive Congenital 3 56 73 13 71
Ctrct34 56 12 73
Catc3 56 12 73
Cataract 34, Multiple Types, with or Without Microcornea 56 73
Cataract 34 Multiple Types 12 15
Cataract 34 Multiple Types with or Without Microcornea 12
Cataract, Autosomal Recessive Congenital 3; Catc3 56
Autosomal Recessive Congenital Cataract 3 12
Cataract, Multiple Types, Type 34 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110230
OMIM 56 612968
OMIM Phenotypic Series 56 PS116200
MeSH 43 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 ascending cholangitis. An important gene associated with Cataract 34, Multiple Types is FOXE3 (Forkhead Box E3), and among its related pathways/superpathways are Glutathione metabolism and Busulfan Pathway, Pharmacodynamics. Affiliated tissues include eye.

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

OMIM : 56 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

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 46, Juvenile-Onset 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 44)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 11 10.3 LINC01389 FOXE3
2 ascending cholangitis 10.2 GGTLC3 GGT2
3 suppurative cholangitis 10.1 GGTLC3 GGT2
4 bile duct rhabdomyosarcoma 10.0 GGTLC3 GGT2 GGT1
5 bile duct sarcoma 10.0 GGTLC3 GGT2 GGT1
6 splenic tuberculosis 10.0 GGTLC3 GGT2 GGT1
7 gallbladder papillary carcinoma 10.0 GGTLC3 GGT2 GGT1
8 extrahepatic bile duct adenoma 10.0 GGTLC3 GGT2 GGT1
9 optic nerve astrocytoma 10.0 GGTLC3 GGT2 GGT1
10 myasthenic syndrome, congenital, 3b, fast-channel 10.0 GGTLC3 GGT2 GGT1
11 algoneurodystrophy 10.0 GGTLC3 GGT2 GGT1
12 giant axonal neuropathy 1, autosomal recessive 10.0 GGTLC3 GGT2 GGT1
13 acute cholangitis 10.0 GGTLC3 GGT2 GGT1
14 retinitis pigmentosa 48 10.0 GGTLC3 GGT2 GGT1
15 bile duct cysts 10.0 GGTLC3 GGT2 GGT1
16 familial adenomatous polyposis 2 10.0 GGTLC3 GGT2
17 viral laryngitis 10.0 GGTLC3 GGT2 GGT1
18 bile acid synthesis defect, congenital, 3 10.0 GGTLC3 GGT2 GGT1
19 common bile duct disease 10.0 GGTLC3 GGT2 GGT1
20 bile duct disease 10.0 GGTLC3 GGT2 GGT1
21 bile acid synthesis defect, congenital, 1 10.0 GGTLC3 GGT2 GGT1
22 esophageal varix 10.0 GGTLC3 GGT2 GGT1
23 choledocholithiasis 9.9 GGTLC3 GGT2 GGT1
24 hepatic vascular disease 9.9 GGTLC3 GGT2 GGT1
25 autoimmune disease of urogenital tract 9.9 GGTLC3 GGT2 GGT1
26 cholestasis, progressive familial intrahepatic, 1 9.9 GGTLC3 GGT2 GGT1
27 vein disease 9.9 GGTLC3 GGT2 GGT1
28 cholestasis, progressive familial intrahepatic, 3 9.9 GGTLC3 GGT2
29 bilirubin metabolic disorder 9.9 GGTLC3 GGT2 GGT1
30 cholangitis, primary sclerosing 9.9 GGTLC3 GGT2 GGT1
31 alcohol use disorder 9.9 GGTLC3 GGT2 GGT1
32 gallbladder disease 9.8 GGTLC3 GGT2 GGT1
33 biliary tract disease 9.8 GGTLC3 GGT2 GGT1
34 deafness, autosomal dominant 59 9.8 GGTLC3 GGT2 GGT1 GGCT
35 lipid storage disease 9.8 MIR144 GGTLC3 GGT2 GGT1
36 inherited metabolic disorder 9.7 MIR144 GGTLC3 GGT2 GGT1
37 lens disease 9.6 GGTLC3 GGT2 GGT1 GGCT FOXE3
38 deficiency anemia 9.5 GGTLC3 GGT2 GGT1 GGCT
39 coronary artery anomaly 9.5 GGTLC3 GGT2 GGT1
40 amelogenesis imperfecta, type if 9.4 GGTLC3 GGT2 GGT1 GGCT CAGE1
41 dientamoebiasis 9.1 GGTLC3 GGT2 GGT1 GGCT CAGE1 ADCY3
42 loeys-dietz syndrome 2 8.7 SUGCT SRSF7 GGTLC3 GGT2 GGT1 GGCT
43 loeys-dietz syndrome 8.7 SUGCT SRSF7 GGTLC3 GGT2 GGT1 GGCT
44 cataract 4, multiple types 8.3 SUGCT SRSF7 GGTLC3 GGT2 GGT1 GGCT

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

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. 56 6
27218149 2016
2
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. 56 6
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 Uncertain significance 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

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 response to tumor necrosis factor GO:0034612 9.4 GGT2 GGT1
2 zymogen activation GO:0031638 9.37 GGT2 GGT1
3 glutathione biosynthetic process GO:0006750 9.32 GGT1 GGCT
4 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
5 peptide modification GO:0031179 9.16 GGT2 GGT1
6 leukotriene D4 biosynthetic process GO:1901750 9.13 GGTLC3 GGT2 GGT1
7 glutathione catabolic process GO:0006751 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 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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