MCID: CTR132
MIFTS: 29

Cataract 3, Multiple Types

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

Aliases & Classifications for Cataract 3, Multiple Types

MalaCards integrated aliases for Cataract 3, Multiple Types:

Name: Cataract 3, Multiple Types 53 71 28 13
Ctrct3 53 12 71
Cca2 53 12 71
Cataract, Congenital, Cerulean Type, 2 53 69
Cataract 3 Multiple Types 12 14
Cataract 3, Multiple Types, with or Without Microcornea 53
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 71
Cataract, Congenital, Cerulean Type, 2; Cca2 53
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 71
Congenital Cataract Cerulean Type 2 71
Cspc 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
intra- and inter familial phenotypic variability, interocular asymmetry, and variable progression


HPO:

31
cataract 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 601547
Disease Ontology 12 DOID:0110269
ICD10 32 Q12.0
MedGen 39 C1832175
MeSH 41 D002386
UMLS 69 C1832175

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 71 Cataract 3, 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. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects.

MalaCards based summary : Cataract 3, Multiple Types, also known as ctrct3, is related to cataract 37 and cataract 21, multiple types, and has symptoms including congenital cataract, cerulean cataract and sutural cataract. An important gene associated with Cataract 3, Multiple Types is CRYBB2 (Crystallin Beta B2). Affiliated tissues include eye.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.

OMIM : 53 Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2. (601547)

Related Diseases for Cataract 3, Multiple Types

Symptoms & Phenotypes for Cataract 3, Multiple Types

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cerulean cataract
coppock-like cataract
sutural cataract with punctate and cerulean opacities
pulverulent embryonal cataract
pulverulent cortical opacities
more

Clinical features from OMIM:

601547

Human phenotypes related to Cataract 3, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 congenital cataract 31 HP:0000519
2 cerulean cataract 31 obligate (100%) HP:0007976
3 sutural cataract 31 HP:0010695

Drugs & Therapeutics for Cataract 3, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 3, Multiple Types

Genetic Tests for Cataract 3, Multiple Types

Genetic tests related to Cataract 3, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 3, Multiple Types 28 CRYBB2

Anatomical Context for Cataract 3, Multiple Types

MalaCards organs/tissues related to Cataract 3, Multiple Types:

38
Eye

Publications for Cataract 3, Multiple Types

Articles related to Cataract 3, Multiple Types:

# Title Authors Year
1
Bile acid recognition by the Clostridium difficile germinant receptor, CspC, is important for establishing infection. ( 23675301 )
2013

Variations for Cataract 3, Multiple Types

ClinVar genetic disease variations for Cataract 3, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBB2 NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs74315489 GRCh37 Chromosome 22, 25627584: 25627584
2 CRYBB2 CRYBB2, 483C-T single nucleotide variant Pathogenic
3 CRYBB2 NM_000496.2(CRYBB2): c.355G> A (p.Gly119Arg) single nucleotide variant Pathogenic rs864309698 GRCh38 Chromosome 22, 25229484: 25229484
4 CRYBB2 NM_000496.2(CRYBB2): c.551T> G (p.Val184Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 25627672: 25627672
5 CRYBB2 NM_000496.2(CRYBB2): c.161T> G (p.Val54Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 25620991: 25620991

Expression for Cataract 3, Multiple Types

Search GEO for disease gene expression data for Cataract 3, Multiple Types.

Pathways for Cataract 3, Multiple Types

GO Terms for Cataract 3, Multiple Types

Biological processes related to Cataract 3, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.8 CRYBB2 OR4Q3 OR5AC2

Sources for Cataract 3, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....