CTRCT22
MCID: CTR180
MIFTS: 26

Cataract 22, Multiple Types (CTRCT22)

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

Aliases & Classifications for Cataract 22, Multiple Types

MalaCards integrated aliases for Cataract 22, Multiple Types:

Name: Cataract 22, Multiple Types 57 74
Cataract, Congenital Nuclear, Autosomal Recessive 2 57 29 6 72
Ctrct22 57 12 74
Catcn2 57 12 74
Autosomal Recessive Congenital Nuclear Cataract 2 12 74
Cataract 22 57 29
Cataract, Congenital Nuclear, Autosomal Recessive 2; Catcn2 57
Cataract 22 Multiple Types 12
Cataract, Type 22 ) 40
Nuclear Cataract 22 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
two pakistani families with a homozygous crybb3 mutation have been reported (last curated august 2014)
one 4-generation caucasian italian family with a heterozygous crybb3 mutation has been reported (last curated august 2014)


HPO:

32
cataract 22, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110268
MeSH 44 D002386
ICD10 33 Q12.0
MedGen 42 C1857853
UMLS 72 C1857853

Summaries for Cataract 22, Multiple Types

UniProtKB/Swiss-Prot : 74 Cataract 22, 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. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and 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.

MalaCards based summary : Cataract 22, Multiple Types, is also known as cataract, congenital nuclear, autosomal recessive 2. An important gene associated with Cataract 22, Multiple Types is CRYBB3 (Crystallin Beta B3). The drug Castor has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are glaucoma and nuclear cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.

OMIM : 57 Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.' (609741)

Symptoms & Phenotypes for Cataract 22, Multiple Types

Human phenotypes related to Cataract 22, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 occasional (7.5%) HP:0000501
2 nuclear cataract 32 HP:0100018
3 developmental cataract 32 HP:0000519

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital
glaucoma (in some patients)
cataract, nuclear (in some patients)
cataract, posterior polar (in some patients)
cataract, anterior polar (in some patients)
more

Clinical features from OMIM:

609741

Drugs & Therapeutics for Cataract 22, Multiple Types

Drugs for Cataract 22, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Castor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Family Studies of Ocular Traits Completed NCT00342342

Search NIH Clinical Center for Cataract 22, Multiple Types

Genetic Tests for Cataract 22, Multiple Types

Genetic tests related to Cataract 22, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Congenital Nuclear, Autosomal Recessive 2 29 CRYBB3
2 Cataract 22 29

Anatomical Context for Cataract 22, Multiple Types

MalaCards organs/tissues related to Cataract 22, Multiple Types:

41
Eye

Publications for Cataract 22, Multiple Types

Articles related to Cataract 22, Multiple Types:

# Title Authors PMID Year
1
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 8 71
23508780 2013
2
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 8 71
15914629 2005
3
Comparison of Selection and Long-term Clinical Outcomes Between Chemotherapy and Radiotherapy as Primary Therapeutic Modality for Ocular Adnexal MALT Lymphoma. 38
31193655 2018
4
Spectrum of ocular diseases in patients attending eye camps in Andaman and Nicobar. 38
26900222 2016
5
Prevalence and causes of low vision and blindness in an urban population: The Chennai Glaucoma Study. 38
23619490 2014
6
Cataract research using electronic health records. 38
22078460 2011
7
Ten-year incidence of age-related cataract and cataract surgery in an older Australian population. The Blue Mountains Eye Study. 38
17900695 2008
8
Refractive error changes in cortical, nuclear, and posterior subcapsular cataracts. 38
12881335 2003
9
[Delayed vision development in 3 children with congenital cataract]. 38
10483557 1999

Variations for Cataract 22, Multiple Types

ClinVar genetic disease variations for Cataract 22, Multiple Types:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CRYBB3 NM_004076.5(CRYBB3): c.493G> C (p.Gly165Arg) single nucleotide variant Pathogenic rs74315490 22:25603036-25603036 22:25207069-25207069
2 CRYBB3 NM_004076.5(CRYBB3): c.581T> A (p.Val194Glu) single nucleotide variant Pathogenic rs587777601 22:25603124-25603124 22:25207157-25207157
3 CRYBB3 NM_004076.5(CRYBB3): c.38C> G (p.Ala13Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147831812 22:25597401-25597401 22:25201434-25201434
4 CRYBB3 NM_004076.5(CRYBB3): c.547G> T (p.Glu183Ter) single nucleotide variant Uncertain significance rs147328317 22:25603090-25603090 22:25207123-25207123
5 CRYBB3 NM_004076.5(CRYBB3): c.194+1G> T single nucleotide variant Uncertain significance 22:25598760-25598760 22:25202793-25202793
6 CRYBB3 NM_004076.5(CRYBB3): c.327+1G> T single nucleotide variant Uncertain significance 22:25599863-25599863 22:25203896-25203896
7 CRYBB3 NM_004076.5(CRYBB3): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance 22:25601239-25601239 22:25205272-25205272
8 CRYBB3 NM_004076.5(CRYBB3): c.471-5G> A single nucleotide variant Uncertain significance 22:25603009-25603009 22:25207042-25207042
9 CRYBB3 NM_004076.5(CRYBB3): c.466G> A (p.Gly156Arg) single nucleotide variant Uncertain significance rs1203386884 22:25601325-25601325 22:25205358-25205358
10 CRYBB3 NM_004076.5(CRYBB3): c.492C> A (p.Pro164=) single nucleotide variant Likely benign rs139487214 22:25603035-25603035 22:25207068-25207068
11 CRYBB3 NM_004076.5(CRYBB3): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs17670506 22:25599849-25599849 22:25203882-25203882
12 CRYBB3 NM_004076.5(CRYBB3): c.475G> A (p.Val159Ile) single nucleotide variant Benign rs4455261 22:25603018-25603018 22:25207051-25207051

UniProtKB/Swiss-Prot genetic disease variations for Cataract 22, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 CRYBB3 p.Gly165Arg VAR_025280 rs74315490
2 CRYBB3 p.Val194Glu VAR_070031 rs587777601

Expression for Cataract 22, Multiple Types

Search GEO for disease gene expression data for Cataract 22, Multiple Types.

Pathways for Cataract 22, Multiple Types

GO Terms for Cataract 22, Multiple Types

Sources for Cataract 22, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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