MCID: CTR180
MIFTS: 22

Cataract 22, Multiple Types

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

Aliases & Classifications for Cataract 22, Multiple Types

MalaCards integrated aliases for Cataract 22, Multiple Types:

Name: Cataract 22, Multiple Types 57 75
Cataract, Congenital Nuclear, Autosomal Recessive 2 57 29 6 73
Ctrct22 57 12 75
Catcn2 57 12 75
Autosomal Recessive Congenital Nuclear Cataract 2 12 75
Cataract, Congenital Nuclear, Autosomal Recessive 2; Catcn2 57
Cataract 22 Multiple Types 12
Cataract, Type 22 ) 40
Nuclear Cataract 22 75
Cataract 22 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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:

OMIM 57 609741
Disease Ontology 12 DOID:0110268
ICD10 33 Q12.0
MedGen 42 C1857853
MeSH 44 D002386
UMLS 73 C1857853

Summaries for Cataract 22, Multiple Types

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include eye, and related phenotypes are glaucoma and congenital 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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

609741

Human phenotypes related to Cataract 22, Multiple Types:

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

Drugs & Therapeutics for Cataract 22, Multiple Types

Search Clinical Trials , 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

Anatomical Context for Cataract 22, Multiple Types

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

41
Eye

Publications for Cataract 22, Multiple Types

Variations for Cataract 22, Multiple Types

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

75
# Symbol AA change Variation ID SNP ID
1 CRYBB3 p.Gly165Arg VAR_025280 rs74315490
2 CRYBB3 p.Val194Glu VAR_070031 rs587777601

ClinVar genetic disease variations for Cataract 22, Multiple Types:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBB3 NM_004076.4(CRYBB3): c.493G> C (p.Gly165Arg) single nucleotide variant Pathogenic rs74315490 GRCh37 Chromosome 22, 25603036: 25603036
2 CRYBB3 NM_004076.4(CRYBB3): c.493G> C (p.Gly165Arg) single nucleotide variant Pathogenic rs74315490 GRCh38 Chromosome 22, 25207069: 25207069
3 CRYBB3 NM_004076.4(CRYBB3): c.581T> A (p.Val194Glu) single nucleotide variant Pathogenic rs587777601 GRCh37 Chromosome 22, 25603124: 25603124
4 CRYBB3 NM_004076.4(CRYBB3): c.581T> A (p.Val194Glu) single nucleotide variant Pathogenic rs587777601 GRCh38 Chromosome 22, 25207157: 25207157
5 CRYBB3 NM_004076.4(CRYBB3): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs17670506 GRCh38 Chromosome 22, 25203882: 25203882
6 CRYBB3 NM_004076.4(CRYBB3): c.314G> A (p.Arg105Gln) single nucleotide variant Benign/Likely benign rs17670506 GRCh37 Chromosome 22, 25599849: 25599849
7 CRYBB3 NM_004076.4(CRYBB3): c.38C> G (p.Ala13Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147831812 GRCh38 Chromosome 22, 25201434: 25201434
8 CRYBB3 NM_004076.4(CRYBB3): c.38C> G (p.Ala13Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147831812 GRCh37 Chromosome 22, 25597401: 25597401
9 CRYBB3 NM_004076.4(CRYBB3): c.475G> A (p.Val159Ile) single nucleotide variant Benign rs4455261 GRCh37 Chromosome 22, 25603018: 25603018
10 CRYBB3 NM_004076.4(CRYBB3): c.475G> A (p.Val159Ile) single nucleotide variant Benign rs4455261 GRCh38 Chromosome 22, 25207051: 25207051
11 CRYBB3 NM_004076.4(CRYBB3): c.547G> T (p.Glu183Ter) single nucleotide variant Uncertain significance rs147328317 GRCh37 Chromosome 22, 25603090: 25603090
12 CRYBB3 NM_004076.4(CRYBB3): c.547G> T (p.Glu183Ter) single nucleotide variant Uncertain significance rs147328317 GRCh38 Chromosome 22, 25207123: 25207123
13 CRYBB3 NM_004076.4(CRYBB3): c.492C> A (p.Pro164=) single nucleotide variant Likely benign rs139487214 GRCh37 Chromosome 22, 25603035: 25603035
14 CRYBB3 NM_004076.4(CRYBB3): c.492C> A (p.Pro164=) single nucleotide variant Likely benign rs139487214 GRCh38 Chromosome 22, 25207068: 25207068
15 CRYBB3 NM_004076.4(CRYBB3): c.466G> A (p.Gly156Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 25205358: 25205358
16 CRYBB3 NM_004076.4(CRYBB3): c.466G> A (p.Gly156Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 25601325: 25601325

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 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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