CTRCT17
MCID: CTR131
MIFTS: 23

Cataract 17, Multiple Types (CTRCT17)

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

Aliases & Classifications for Cataract 17, Multiple Types

MalaCards integrated aliases for Cataract 17, Multiple Types:

Name: Cataract 17, Multiple Types 57 75 73
Cataract, Congenital Nuclear, Autosomal Recessive 3 57 29 13 6 73
Ctrct17 57 12 75
Catcn3 57 12 75
Cataract 17, Multiple Types, with or Without Microcornea 57 75
Autosomal Recessive Congenital Nuclear Cataract 3 12 75
Cataract, Congenital Nuclear, Autosomal Recessive 3; Catcn3 57
Cataract 17 Multiple Types 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
cataracts are present at birth or develop in the first year of life
cataracts are asymmetric between the 2 eyes in some patients


HPO:

32
cataract 17, multiple types:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611544
Disease Ontology 12 DOID:0110270
ICD10 33 Q12.0
MeSH 44 D002386

Summaries for Cataract 17, Multiple Types

UniProtKB/Swiss-Prot : 75 Cataract 17, 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. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.

MalaCards based summary : Cataract 17, Multiple Types, is also known as cataract, congenital nuclear, autosomal recessive 3. An important gene associated with Cataract 17, Multiple Types is CRYBB1 (Crystallin Beta B1). Affiliated tissues include eye, and related phenotypes are nystagmus and amblyopia

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.

OMIM : 57 Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.' (611544)

Symptoms & Phenotypes for Cataract 17, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
reduced visual acuity
nuclear cataract
microcornea (in some patients)
pulverulent cataract
more

Clinical features from OMIM:

611544

Human phenotypes related to Cataract 17, Multiple Types:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 amblyopia 32 occasional (7.5%) HP:0000646
3 microcornea 32 occasional (7.5%) HP:0000482
4 congenital cataract 32 HP:0000519
5 nuclear cataract 32 HP:0100018
6 pulverulent cataract 32 HP:0010693

Drugs & Therapeutics for Cataract 17, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 17, Multiple Types

Genetic Tests for Cataract 17, Multiple Types

Genetic tests related to Cataract 17, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Congenital Nuclear, Autosomal Recessive 3 29 CRYBB1

Anatomical Context for Cataract 17, Multiple Types

MalaCards organs/tissues related to Cataract 17, Multiple Types:

41
Eye

Publications for Cataract 17, Multiple Types

Variations for Cataract 17, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 17, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 CRYBB1 p.Val96Phe VAR_070030

ClinVar genetic disease variations for Cataract 17, Multiple Types:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBB1 NM_001887.3(CRYBB1): c.658G> T (p.Gly220Ter) single nucleotide variant Pathogenic rs74315488 GRCh37 Chromosome 22, 26995555: 26995555
2 CRYBB1 NM_001887.3(CRYBB1): c.658G> T (p.Gly220Ter) single nucleotide variant Pathogenic rs74315488 GRCh38 Chromosome 22, 26599591: 26599591
3 CRYBB1 NM_001887.3(CRYBB1): c.171delG (p.Asn58Thrfs) deletion Pathogenic rs1064793935 GRCh38 Chromosome 22, 26616149: 26616149
4 CRYBB1 NM_001887.3(CRYBB1): c.171delG (p.Asn58Thrfs) deletion Pathogenic rs1064793935 GRCh37 Chromosome 22, 27012113: 27012113
5 CRYBB1 NM_001887.3(CRYBB1): c.757T> C (p.Ter253Arg) single nucleotide variant Pathogenic rs1114167432 GRCh37 Chromosome 22, 26995456: 26995456
6 CRYBB1 NM_001887.3(CRYBB1): c.757T> C (p.Ter253Arg) single nucleotide variant Pathogenic rs1114167432 GRCh38 Chromosome 22, 26599492: 26599492
7 CRYBB1 NM_001887.3(CRYBB1): c.387C> A (p.Ser129Arg) single nucleotide variant Pathogenic rs1114167433 GRCh38 Chromosome 22, 26607934: 26607934
8 CRYBB1 NM_001887.3(CRYBB1): c.387C> A (p.Ser129Arg) single nucleotide variant Pathogenic rs1114167433 GRCh37 Chromosome 22, 27003898: 27003898
9 CRYBB1 NM_001887.3(CRYBB1): c.432+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 27003848: 27003848
10 CRYBB1 NM_001887.3(CRYBB1): c.432+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 26607884: 26607884
11 CRYBB1 NM_001887.3(CRYBB1): c.328C> T (p.Arg110Cys) single nucleotide variant Benign rs147206089 GRCh37 Chromosome 22, 27003957: 27003957
12 CRYBB1 NM_001887.3(CRYBB1): c.328C> T (p.Arg110Cys) single nucleotide variant Benign rs147206089 GRCh38 Chromosome 22, 26607993: 26607993
13 CRYBB1 NM_001887.4(CRYBB1): c.585del (p.Tyr196Ilefs) deletion Pathogenic GRCh38 Chromosome 22, 26599664: 26599664
14 CRYBB1 NM_001887.4(CRYBB1): c.585del (p.Tyr196Ilefs) deletion Pathogenic GRCh37 Chromosome 22, 26995628: 26995628
15 CRYBB1 NM_001887.4(CRYBB1): c.234G> T (p.Gly78=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 27008101: 27008101
16 CRYBB1 NM_001887.4(CRYBB1): c.234G> T (p.Gly78=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 26612137: 26612137

Expression for Cataract 17, Multiple Types

Search GEO for disease gene expression data for Cataract 17, Multiple Types.

Pathways for Cataract 17, Multiple Types

GO Terms for Cataract 17, Multiple Types

Sources for Cataract 17, 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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