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 57 75 29 6 73
Ctrct39 57 12 75
Cataract 39, Multiple Types, Autosomal Dominant 57
Autosomal Dominant Cataract 39 Multiple Types 12
Cataract, Type 39, Multiple Types 40
Cataract 39 Multiple Types 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 39, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615188
Disease Ontology 12 DOID:0110236
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008 609587005 79410001
UMLS 73 C3808800

Summaries for Cataract 39, Multiple Types

UniProtKB/Swiss-Prot : 75 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 congenital cataract.

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

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital
cataract, lamellar
cataract, anterior polar
cataract, complete


Clinical features from OMIM:

615188

Human phenotypes related to Cataract 39, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

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 29 CRYGB

Anatomical Context for Cataract 39, Multiple Types

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

41
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 rs370450145 GRCh37 Chromosome 2, 209010706: 209010706
12 CRYGB NM_005210.3(CRYGB): c.44G> A (p.Arg15His) single nucleotide variant Uncertain significance rs370450145 GRCh38 Chromosome 2, 208145982: 208145982

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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