MCID: CTR132
MIFTS: 28

Cataract 3, Multiple Types

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

Aliases & Classifications for Cataract 3, Multiple Types

MalaCards integrated aliases for Cataract 3, Multiple Types:

Name: Cataract 3, Multiple Types 57 75 29 13 6
Ctrct3 57 12 75
Cca2 57 12 75
Cataract, Congenital, Cerulean Type, 2 57 73
Cataract 3 Multiple Types 12 15
Cataract 3, Multiple Types, with or Without Microcornea 57
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 75
Cataract, Congenital, Cerulean Type, 2; Cca2 57
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 75
Congenital Cataract Cerulean Type 2 75
Cspc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cataract 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601547
Disease Ontology 12 DOID:0110269
ICD10 33 Q12.0
MedGen 42 C1832175
MeSH 44 D002386
UMLS 73 C1832175

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Cataract 3, Multiple Types is CRYBB2 (Crystallin Beta B2). Affiliated tissues include eye, and related phenotypes are congenital cataract and cerulean cataract

OMIM : 57 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)

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

Related Diseases for Cataract 3, Multiple Types

Symptoms & Phenotypes for Cataract 3, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 cerulean cataract 32 obligate (100%) HP:0007976
3 sutural cataract 32 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 29 CRYBB2

Anatomical Context for Cataract 3, Multiple Types

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

41
Eye

Publications for Cataract 3, Multiple Types

Variations for Cataract 3, Multiple Types

ClinVar genetic disease variations for Cataract 3, Multiple Types:

6
(show all 13)
# 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 NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic/Likely pathogenic rs74315489 GRCh38 Chromosome 22, 25231617: 25231617
3 CRYBB2 CRYBB2, 483C-T single nucleotide variant Pathogenic
4 CRYBB2 NM_000496.2(CRYBB2): c.355G> A (p.Gly119Arg) single nucleotide variant Pathogenic rs864309698 GRCh38 Chromosome 22, 25229484: 25229484
5 CRYBB2 NM_000496.2(CRYBB2): c.355G> A (p.Gly119Arg) single nucleotide variant Pathogenic rs864309698 GRCh37 Chromosome 22, 25625451: 25625451
6 CRYBB2 NM_000496.2(CRYBB2): c.193G> T (p.Ala65Ser) single nucleotide variant Benign rs16986560 GRCh38 Chromosome 22, 25227872: 25227872
7 CRYBB2 NM_000496.2(CRYBB2): c.193G> T (p.Ala65Ser) single nucleotide variant Benign rs16986560 GRCh37 Chromosome 22, 25623839: 25623839
8 CRYBB2 NM_000496.2(CRYBB2): c.551T> G (p.Val184Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 25627672: 25627672
9 CRYBB2 NM_000496.2(CRYBB2): c.551T> G (p.Val184Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 25231705: 25231705
10 CRYBB2 NM_000496.2(CRYBB2): c.161T> G (p.Val54Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 25620991: 25620991
11 CRYBB2 NM_000496.2(CRYBB2): c.161T> G (p.Val54Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 25225024: 25225024
12 CRYBB2 NM_000496.2(CRYBB2): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs146763276 GRCh37 Chromosome 22, 25623888: 25623888
13 CRYBB2 NM_000496.2(CRYBB2): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs146763276 GRCh38 Chromosome 22, 25227921: 25227921

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
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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