CTRCT20
MCID: CTR106
MIFTS: 18

Cataract 20, Multiple Types (CTRCT20)

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

Aliases & Classifications for Cataract 20, Multiple Types

MalaCards integrated aliases for Cataract 20, Multiple Types:

Name: Cataract 20, Multiple Types 58 76 74
Ctrct20 58 12 76
Cataract 20 Multiple Types 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 20, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110240
OMIM 58 116100
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C0524524
UMLS 74 C3805410

Summaries for Cataract 20, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 20, 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. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical.

MalaCards based summary : Cataract 20, Multiple Types, is also known as ctrct20. An important gene associated with Cataract 20, Multiple Types is CRYGS (Crystallin Gamma S). Affiliated tissues include eye, and related phenotypes are cataract and membranous cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CRYGS gene on chromosome 3q27.

OMIM : 58 Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar. (116100)

Symptoms & Phenotypes for Cataract 20, Multiple Types

Human phenotypes related to Cataract 20, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 membranous cataract 33 HP:0010922

Symptoms via clinical synopsis from OMIM:

58
Eyes:
membranous cataract

Clinical features from OMIM:

116100

Drugs & Therapeutics for Cataract 20, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 20, Multiple Types

Genetic Tests for Cataract 20, Multiple Types

Anatomical Context for Cataract 20, Multiple Types

MalaCards organs/tissues related to Cataract 20, Multiple Types:

42
Eye

Publications for Cataract 20, Multiple Types

Variations for Cataract 20, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 20, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 CRYGS p.Gly18Val VAR_069797 rs104893736

ClinVar genetic disease variations for Cataract 20, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYGS NM_017541.3(CRYGS): c.53G> T (p.Gly18Val) single nucleotide variant Pathogenic rs104893736 GRCh37 Chromosome 3, 186257355: 186257355
2 CRYGS NM_017541.3(CRYGS): c.53G> T (p.Gly18Val) single nucleotide variant Pathogenic rs104893736 GRCh38 Chromosome 3, 186539566: 186539566
3 CRYGS NM_017541.3(CRYGS): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs1553846926 GRCh38 Chromosome 3, 186539366: 186539366
4 CRYGS NM_017541.3(CRYGS): c.253G> A (p.Ala85Thr) single nucleotide variant Uncertain significance rs1553846926 GRCh37 Chromosome 3, 186257155: 186257155
5 CRYGS NM_017541.3(CRYGS): c.24T> A (p.Ile8=) single nucleotide variant Benign rs113031838 GRCh37 Chromosome 3, 186257384: 186257384
6 CRYGS NM_017541.3(CRYGS): c.24T> A (p.Ile8=) single nucleotide variant Benign rs113031838 GRCh38 Chromosome 3, 186539595: 186539595
7 CRYGS NM_017541.4(CRYGS): c.116C> G (p.Ser39Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 186257292: 186257292
8 CRYGS NM_017541.4(CRYGS): c.116C> G (p.Ser39Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 186539503: 186539503
9 CRYGS CRYGS, VAL42MET single nucleotide variant Pathogenic

Expression for Cataract 20, Multiple Types

Search GEO for disease gene expression data for Cataract 20, Multiple Types.

Pathways for Cataract 20, Multiple Types

GO Terms for Cataract 20, Multiple Types

Sources for Cataract 20, 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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