CTRCT20
MCID: CTR106
MIFTS: 20

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 57 74 72
Ctrct20 57 12 74
Cataract 20 Multiple Types 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 20, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110240
MeSH 44 D002386
ICD10 33 Q12.0
UMLS 72 C3805410

Summaries for Cataract 20, Multiple Types

UniProtKB/Swiss-Prot : 74 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 : 57 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:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 membranous cataract 32 HP:0010922

Symptoms via clinical synopsis from OMIM:

57
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:

41
Eye

Publications for Cataract 20, Multiple Types

Articles related to Cataract 20, Multiple Types:

# Title Authors PMID Year
1
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. 8 71
19262743 2009
2
Crystallin gene mutations in Indian families with inherited pediatric cataract. 8 71
18587492 2008
3
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 8 71
16141006 2005

Variations for Cataract 20, Multiple Types

ClinVar genetic disease variations for Cataract 20, Multiple Types:

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

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

74
# Symbol AA change Variation ID SNP ID
1 CRYGS p.Gly18Val VAR_069797 rs104893736

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
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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