CTRCT22
MCID: CTR180
MIFTS: 27

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 56 73
Cataract, Congenital Nuclear, Autosomal Recessive 2 56 29 6 71
Ctrct22 56 12 73
Catcn2 56 12 73
Autosomal Recessive Congenital Nuclear Cataract 2 12 73
Cataract 22 56 29
Cataract, Congenital Nuclear, Autosomal Recessive 2; Catcn2 56
Cataract 22 Multiple Types 12
Cataract, Type 22 ) 39
Nuclear Cataract 22 73

Characteristics:

OMIM:

56
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:

31
cataract 22, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110268
OMIM 56 609741
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1857853
UMLS 71 C1857853

Summaries for Cataract 22, Multiple Types

UniProtKB/Swiss-Prot : 73 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 developmental 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 : 56 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:

31
# Description HPO Frequency HPO Source Accession
1 glaucoma 31 occasional (7.5%) HP:0000501
2 developmental cataract 31 HP:0000519
3 nuclear cataract 31 HP:0100018

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 6 56
23508780 2013
2
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. 6 56
15914629 2005
3
Comparison of Selection and Long-term Clinical Outcomes Between Chemotherapy and Radiotherapy as Primary Therapeutic Modality for Ocular Adnexal MALT Lymphoma. 61
31193655 2018
4
Spectrum of ocular diseases in patients attending eye camps in Andaman and Nicobar. 61
26900222 2016
5
Prevalence and causes of low vision and blindness in an urban population: The Chennai Glaucoma Study. 61
23619490 2014
6
Cataract research using electronic health records. 61
22078460 2011
7
Ten-year incidence of age-related cataract and cataract surgery in an older Australian population. The Blue Mountains Eye Study. 61
17900695 2008
8
Refractive error changes in cortical, nuclear, and posterior subcapsular cataracts. 61
12881335 2003
9
[Delayed vision development in 3 children with congenital cataract]. 61
10483557 1999

Variations for Cataract 22, Multiple Types

ClinVar genetic disease variations for Cataract 22, Multiple Types:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYBB3 NM_004076.5(CRYBB3):c.493G>C (p.Gly165Arg)SNV Pathogenic 16948 rs74315490 22:25603036-25603036 22:25207069-25207069
2 CRYBB3 NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu)SNV Pathogenic 143233 rs587777601 22:25603124-25603124 22:25207157-25207157
3 CRYBB3 NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)SNV Conflicting interpretations of pathogenicity 466361 rs147328317 22:25603090-25603090 22:25207123-25207123
4 CRYBB3 NM_004076.5(CRYBB3):c.327+1G>TSNV Conflicting interpretations of pathogenicity 631888 rs143187630 22:25599863-25599863 22:25203896-25203896
5 CRYBB3 NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)SNV Conflicting interpretations of pathogenicity 340957 rs147937174 22:25603127-25603127 22:25207160-25207160
6 CRYBB3 NM_004076.5(CRYBB3):c.*143C>TSNV Uncertain significance 340961 rs886057294 22:25603322-25603322 22:25207355-25207355
7 CRYBB3 NM_004076.5(CRYBB3):c.25G>A (p.Glu9Lys)SNV Uncertain significance 340948 rs367616021 22:25597388-25597388 22:25201421-25201421
8 CRYBB3 NM_004076.5(CRYBB3):c.379C>T (p.Arg127Cys)SNV Uncertain significance 340954 rs200985752 22:25601238-25601238 22:25205271-25205271
9 CRYBB3 NM_004076.5(CRYBB3):c.603G>T (p.Lys201Asn)SNV Uncertain significance 340958 rs142897070 22:25603146-25603146 22:25207179-25207179
10 CRYBB3 NM_004076.5(CRYBB3):c.380G>A (p.Arg127His)SNV Uncertain significance 658617 22:25601239-25601239 22:25205272-25205272
11 CRYBB3 NM_004076.5(CRYBB3):c.471-5G>ASNV Uncertain significance 653862 22:25603009-25603009 22:25207042-25207042
12 CRYBB3 NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)SNV Uncertain significance 534700 rs1203386884 22:25601325-25601325 22:25205358-25205358
13 CRYBB3 NM_004076.5(CRYBB3):c.194+1G>TSNV Uncertain significance 631887 rs200444299 22:25598760-25598760 22:25202793-25202793
14 CRYBB3 NM_004076.5(CRYBB3):c.454C>T (p.Arg152Cys)SNV Uncertain significance 899688 22:25601313-25601313 22:25205346-25205346
15 CRYBB3 NM_004076.5(CRYBB3):c.505C>T (p.Arg169Cys)SNV Uncertain significance 900829 22:25603048-25603048 22:25207081-25207081
16 CRYBB3 NM_004076.5(CRYBB3):c.524G>A (p.Arg175Gln)SNV Uncertain significance 900830 22:25603067-25603067 22:25207100-25207100
17 CRYBB3 NM_004076.5(CRYBB3):c.531G>T (p.Glu177Asp)SNV Uncertain significance 900831 22:25603074-25603074 22:25207107-25207107
18 CRYBB3 NM_004076.5(CRYBB3):c.536G>A (p.Arg179His)SNV Uncertain significance 900832 22:25603079-25603079 22:25207112-25207112
19 CRYBB3 NM_004076.5(CRYBB3):c.613C>T (p.Arg205Trp)SNV Uncertain significance 902501 22:25603156-25603156 22:25207189-25207189
20 CRYBB3 NM_004076.5(CRYBB3):c.620G>A (p.Arg207His)SNV Uncertain significance 902502 22:25603163-25603163 22:25207196-25207196
21 CRYBB3 NM_004076.5(CRYBB3):c.621C>T (p.Arg207=)SNV Uncertain significance 902503 22:25603164-25603164 22:25207197-25207197
22 CRYBB3 NM_004076.5(CRYBB3):c.*103C>TSNV Uncertain significance 340960 rs886057293 22:25603282-25603282 22:25207315-25207315
23 CRYBB3 NM_004076.5(CRYBB3):c.174C>T (p.Ser58=)SNV Uncertain significance 340951 rs886057292 22:25598739-25598739 22:25202772-25202772
24 CRYBB3 NM_004076.5(CRYBB3):c.506G>A (p.Arg169His)SNV Uncertain significance 340955 rs374984300 22:25603049-25603049 22:25207082-25207082
25 CRYBB3 NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)SNV Uncertain significance 340952 rs201863246 22:25599748-25599748 22:25203781-25203781
26 CRYBB3 NM_004076.5(CRYBB3):c.313C>T (p.Arg105Trp)SNV Uncertain significance 340953 rs376115617 22:25599848-25599848 22:25203881-25203881
27 CRYBB3 NM_004076.5(CRYBB3):c.144G>A (p.Leu48=)SNV Uncertain significance 340950 rs886057291 22:25598709-25598709 22:25202742-25202742
28 CRYBB3 NM_004076.5(CRYBB3):c.136C>T (p.Pro46Ser)SNV Uncertain significance 902427 22:25598701-25598701 22:25202734-25202734
29 CRYBB3 NM_004076.5(CRYBB3):c.189C>T (p.Ser63=)SNV Uncertain significance 902428 22:25598754-25598754 22:25202787-25202787
30 CRYBB3 NM_004076.5(CRYBB3):c.224G>A (p.Arg75His)SNV Uncertain significance 902429 22:25599759-25599759 22:25203792-25203792
31 CRYBB3 NM_004076.5(CRYBB3):c.224G>T (p.Arg75Leu)SNV Uncertain significance 903286 22:25599759-25599759 22:25203792-25203792
32 CRYBB3 NM_004076.5(CRYBB3):c.-61C>TSNV Uncertain significance 899617 22:25595836-25595836 22:25199869-25199869
33 CRYBB3 NM_004076.5(CRYBB3):c.-57C>GSNV Uncertain significance 899618 22:25595840-25595840 22:25199873-25199873
34 CRYBB3 NM_004076.5(CRYBB3):c.328-8G>ASNV Uncertain significance 903288 22:25601179-25601179 22:25205212-25205212
35 CRYBB3 NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu)SNV Likely benign 902426 22:25598690-25598690 22:25202723-25202723
36 CRYBB3 NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)SNV Likely benign 903287 22:25599770-25599770 22:25203803-25203803
37 CRYBB3 NM_004076.5(CRYBB3):c.*129G>ASNV Likely benign 903360 22:25603308-25603308 22:25207341-25207341
38 CRYBB3 NM_004076.5(CRYBB3):c.492C>A (p.Pro164=)SNV Likely benign 466360 rs139487214 22:25603035-25603035 22:25207068-25207068
39 CRYBB3 NM_004076.5(CRYBB3):c.567G>A (p.Pro189=)SNV Benign/Likely benign 340956 rs144842183 22:25603110-25603110 22:25207143-25207143
40 CRYBB3 NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)SNV Benign/Likely benign 259228 rs17670506 22:25599849-25599849 22:25203882-25203882
41 CRYBB3 NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)SNV Benign 466359 rs4455261 22:25603018-25603018 22:25207051-25207051
42 CRYBB3 NM_004076.5(CRYBB3):c.6G>A (p.Ala2=)SNV Benign 703368 22:25597369-25597369 22:25201402-25201402

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

73
# 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
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30 HMDB
31 HPO
32 ICD10
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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