CTRCT39
MCID: CTR184
MIFTS: 22

Cataract 39, Multiple Types (CTRCT39)

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

Aliases & Classifications for Cataract 39, Multiple Types

MalaCards integrated aliases for Cataract 39, Multiple Types:

Name: Cataract 39, Multiple Types 58 76 30 6 74
Ctrct39 58 12 76
Cataract 39, Multiple Types, Autosomal Dominant 58
Autosomal Dominant Cataract 39 Multiple Types 12
Cataract, Type 39, Multiple Types 41
Cataract 39 Multiple Types 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 39, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110236
OMIM 58 615188
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 263681008 609587005 79410001
UMLS 74 C3808800

Summaries for Cataract 39, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 39, 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. CTRCT39 includes lamellar, anterior polar, and complete cataracts.

MalaCards based summary : Cataract 39, Multiple Types, is also known as ctrct39. An important gene associated with Cataract 39, Multiple Types is CRYGB (Crystallin Gamma B). Affiliated tissues include eye, and related phenotype is developmental cataract.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CRYGB gene on chromosome 2q34.

OMIM : 58 Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete. (615188)

Symptoms & Phenotypes for Cataract 39, Multiple Types

Human phenotypes related to Cataract 39, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, congenital
cataract, lamellar
cataract, anterior polar
cataract, complete

Clinical features from OMIM:

615188

Drugs & Therapeutics for Cataract 39, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 39, Multiple Types

Genetic Tests for Cataract 39, Multiple Types

Genetic tests related to Cataract 39, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 39, Multiple Types 30 CRYGB

Anatomical Context for Cataract 39, Multiple Types

MalaCards organs/tissues related to Cataract 39, Multiple Types:

42
Eye

Publications for Cataract 39, Multiple Types

Variations for Cataract 39, Multiple Types

ClinVar genetic disease variations for Cataract 39, Multiple Types:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYGB NM_005210.3(CRYGB): c.72delC (p.Asn25Thrfs*20) deletion Pathogenic rs387907342 GRCh37 Chromosome 2, 209010678: 209010678
2 CRYGB NM_005210.3(CRYGB): c.72delC (p.Asn25Thrfs*20) deletion Pathogenic rs387907342 GRCh38 Chromosome 2, 208145954: 208145954
3 CRYGB NM_005210.3(CRYGB): c.10-38delG deletion Pathogenic rs3214759 GRCh37 Chromosome 2, 209010778: 209010778
4 CRYGB NM_005210.3(CRYGB): c.10-38delG deletion Pathogenic rs3214759 GRCh38 Chromosome 2, 208146054: 208146054
5 CRYGB NM_005210.3(CRYGB): c.312A> G (p.Ser104=) single nucleotide variant Benign rs200750137 GRCh37 Chromosome 2, 209007578: 209007578
6 CRYGB NM_005210.3(CRYGB): c.312A> G (p.Ser104=) single nucleotide variant Benign rs200750137 GRCh38 Chromosome 2, 208142854: 208142854
7 CRYGB NM_005210.3(CRYGB): c.175C> T (p.Arg59Trp) single nucleotide variant Benign rs76323117 GRCh37 Chromosome 2, 209010575: 209010575
8 CRYGB NM_005210.3(CRYGB): c.175C> T (p.Arg59Trp) single nucleotide variant Benign rs76323117 GRCh38 Chromosome 2, 208145851: 208145851
9 CRYGB NM_005210.3(CRYGB): c.244A> G (p.Ile82Val) single nucleotide variant Uncertain significance rs374476265 GRCh37 Chromosome 2, 209010506: 209010506
10 CRYGB NM_005210.3(CRYGB): c.244A> G (p.Ile82Val) single nucleotide variant Uncertain significance rs374476265 GRCh38 Chromosome 2, 208145782: 208145782
11 CRYGB NM_005210.3(CRYGB): c.44G> A (p.Arg15His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 208145982: 208145982
12 CRYGB NM_005210.3(CRYGB): c.44G> A (p.Arg15His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 209010706: 209010706

Expression for Cataract 39, Multiple Types

Search GEO for disease gene expression data for Cataract 39, Multiple Types.

Pathways for Cataract 39, Multiple Types

GO Terms for Cataract 39, Multiple Types

Sources for Cataract 39, 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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