CTRCT39
MCID: CTR184
MIFTS: 23

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 72 29 6 70
Ctrct39 57 12 72
Cataract 39, Multiple Types, Autosomal Dominant 57 29
Autosomal Dominant Cataract 39 Multiple Types 12
Cataract, Type 39, Multiple Types 39
Cataract 39 Multiple Types 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cataract 39, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110236
OMIM® 57 615188
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 263681008 609587005 79410001
UMLS 70 C3808800

Summaries for Cataract 39, Multiple Types

UniProtKB/Swiss-Prot : 72 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, also known as ctrct39, is related to cataract and early-onset non-syndromic cataract. 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® : 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) (Updated 20-May-2021)

Related Diseases for Cataract 39, Multiple Types

Symptoms & Phenotypes for Cataract 39, Multiple Types

Human phenotypes related to Cataract 39, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract, congenital
cataract, lamellar
cataract, anterior polar
cataract, complete

Clinical features from OMIM®:

615188 (Updated 20-May-2021)

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
2 Cataract 39, Multiple Types, Autosomal Dominant 29

Anatomical Context for Cataract 39, Multiple Types

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

40
Eye

Publications for Cataract 39, Multiple Types

Articles related to Cataract 39, Multiple Types:

# Title Authors PMID Year
1
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. 57 6
23288985 2012

Variations for Cataract 39, Multiple Types

ClinVar genetic disease variations for Cataract 39, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.72del (p.Asn25fs) Deletion Pathogenic 41987 rs387907342 GRCh37: 2:209010678-209010678
GRCh38: 2:208145954-208145954
2 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.478del (p.Ala160fs) Deletion Pathogenic 1031517 GRCh37: 2:209007412-209007412
GRCh38: 2:208142688-208142688
3 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.44G>A (p.Arg15His) SNV Uncertain significance 572782 rs370450145 GRCh37: 2:209010706-209010706
GRCh38: 2:208145982-208145982
4 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.244A>G (p.Ile82Val) SNV Uncertain significance 474171 rs374476265 GRCh37: 2:209010506-209010506
GRCh38: 2:208145782-208145782
5 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp) SNV Benign 474170 rs76323117 GRCh37: 2:209010575-209010575
GRCh38: 2:208145851-208145851
6 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.312A>G (p.Ser104=) SNV Benign 474172 rs200750137 GRCh37: 2:209007578-209007578
GRCh38: 2:208142854-208142854
7 CRYGB , LOC100507443 NM_005210.4(CRYGB):c.10-38del Deletion Benign 41988 rs3214759 GRCh37: 2:209010778-209010778
GRCh38: 2:208146054-208146054

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....