CTRCT17
MCID: CTR131
MIFTS: 24

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 58 76 74
Cataract, Congenital Nuclear, Autosomal Recessive 3 58 30 13 6 74
Ctrct17 58 12 76
Catcn3 58 12 76
Cataract 17, Multiple Types, with or Without Microcornea 58 76
Autosomal Recessive Congenital Nuclear Cataract 3 12 76
Cataract, Congenital Nuclear, Autosomal Recessive 3; Catcn3 58
Cataract 17 Multiple Types 12

Characteristics:

OMIM:

58
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:

33
cataract 17, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110270
OMIM 58 611544
MeSH 45 D002386
ICD10 34 Q12.0

Summaries for Cataract 17, Multiple Types

UniProtKB/Swiss-Prot : 76 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 amblyopia and microcornea

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 : 58 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

Human phenotypes related to Cataract 17, Multiple Types:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 amblyopia 33 occasional (7.5%) HP:0000646
2 microcornea 33 occasional (7.5%) HP:0000482
3 nystagmus 33 HP:0000639
4 nuclear cataract 33 HP:0100018
5 pulverulent cataract 33 HP:0010693
6 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
reduced visual acuity
nuclear cataract
microcornea (in some patients)
pulverulent cataract
more

Clinical features from OMIM:

611544

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 30 CRYBB1

Anatomical Context for Cataract 17, Multiple Types

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

42
Eye

Publications for Cataract 17, Multiple Types

Articles related to Cataract 17, Multiple Types:

# Title Authors Year
1
A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. ( 21972112 )
2011
2
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. ( 17460281 )
2007
3
CRYBB1 mutation associated with congenital cataract and microcornea. ( 16110300 )
2005
4
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. ( 12360425 )
2002

Variations for Cataract 17, Multiple Types

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

76
# 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_001887.4(CRYBB1): c.658G> T (p.Gly220Ter) single nucleotide variant Pathogenic rs74315488 GRCh37 Chromosome 22, 26995555: 26995555
2 CRYBB1 NM_001887.4(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_001887.4(CRYBB1): c.757T> C (p.Ter253Arg) single nucleotide variant Pathogenic rs1114167432 GRCh37 Chromosome 22, 26995456: 26995456
6 CRYBB1 NM_001887.4(CRYBB1): c.757T> C (p.Ter253Arg) single nucleotide variant Pathogenic rs1114167432 GRCh38 Chromosome 22, 26599492: 26599492
7 CRYBB1 NM_001887.4(CRYBB1): c.387C> A (p.Ser129Arg) single nucleotide variant Pathogenic rs1114167433 GRCh38 Chromosome 22, 26607934: 26607934
8 CRYBB1 NM_001887.4(CRYBB1): c.387C> A (p.Ser129Arg) single nucleotide variant Pathogenic rs1114167433 GRCh37 Chromosome 22, 27003898: 27003898
9 CRYBB1 NM_001887.4(CRYBB1): c.432+5G> C single nucleotide variant Uncertain significance rs1555940959 GRCh37 Chromosome 22, 27003848: 27003848
10 CRYBB1 NM_001887.4(CRYBB1): c.432+5G> C single nucleotide variant Uncertain significance rs1555940959 GRCh38 Chromosome 22, 26607884: 26607884
11 CRYBB1 NM_001887.4(CRYBB1): c.328C> T (p.Arg110Cys) single nucleotide variant Benign rs147206089 GRCh38 Chromosome 22, 26607993: 26607993
12 CRYBB1 NM_001887.4(CRYBB1): c.328C> T (p.Arg110Cys) single nucleotide variant Benign rs147206089 GRCh37 Chromosome 22, 27003957: 27003957
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
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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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