CTRCT3
MCID: CTR132
MIFTS: 30

Cataract 3, Multiple Types (CTRCT3)

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

Aliases & Classifications for Cataract 3, Multiple Types

MalaCards integrated aliases for Cataract 3, Multiple Types:

Name: Cataract 3, Multiple Types 58 76 30 13 6
Ctrct3 58 12 76
Cca2 58 12 76
Cataract, Congenital, Cerulean Type, 2 58 74
Cataract 3 Multiple Types 12 15
Cataract 3, Multiple Types, with or Without Microcornea 58
Cataract 3 Multiple Types with or Without Microcornea 12
Sutural Cataract with Punctate and Cerulean Opacities 76
Cataract, Congenital, Cerulean Type, 2; Cca2 58
Congenital Cerulean Type Cataract 2 12
Congenital Cataract Blue Dot Type 2 76
Congenital Cataract Cerulean Type 2 76
Cspc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cataract 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110269
OMIM 58 601547
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1832175
UMLS 74 C1832175

Summaries for Cataract 3, Multiple Types

UniProtKB/Swiss-Prot : 76 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 cerulean cataract and developmental cataract

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

OMIM : 58 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

Human phenotypes related to Cataract 3, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 cerulean cataract 33 obligate (100%) HP:0007976
2 developmental cataract 33 HP:0000519
3 sutural cataract 33 HP:0010695

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Cataract 3, Multiple Types according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.53 CRYBB2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.53 ANTXR2 CRYBB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.53 ANTXR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.53 CRYBB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.53 CRYBB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.53 CRYBB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.53 CRYBB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.53 CRYBB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.53 CRYBB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 ANTXR2 CRYBB2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 CRYBB2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.53 ANTXR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.53 CRYBB2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.53 CRYBB2

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 30 CRYBB2

Anatomical Context for Cataract 3, Multiple Types

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

42
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 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBB2 NM_000496.2(CRYBB2): c.355G> A (p.Gly119Arg) single nucleotide variant Pathogenic rs864309698 GRCh38 Chromosome 22, 25229484: 25229484
2 CRYBB2 NM_000496.2(CRYBB2): c.355G> A (p.Gly119Arg) single nucleotide variant Pathogenic rs864309698 GRCh37 Chromosome 22, 25625451: 25625451
3 CRYBB2 NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs74315489 GRCh37 Chromosome 22, 25627584: 25627584
4 CRYBB2 NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs74315489 GRCh38 Chromosome 22, 25231617: 25231617
5 CRYBB2 CRYBB2, 483C-T single nucleotide variant Pathogenic
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.563G> A (p.Arg188His) single nucleotide variant Pathogenic/Likely pathogenic rs886041410 GRCh38 Chromosome 22, 25231717: 25231717
9 CRYBB2 NM_000496.2(CRYBB2): c.563G> A (p.Arg188His) single nucleotide variant Pathogenic/Likely pathogenic rs886041410 GRCh37 Chromosome 22, 25627684: 25627684
10 CRYBB2 NM_000496.2(CRYBB2): c.551T> G (p.Val184Gly) single nucleotide variant Likely pathogenic rs1555889308 GRCh37 Chromosome 22, 25627672: 25627672
11 CRYBB2 NM_000496.2(CRYBB2): c.551T> G (p.Val184Gly) single nucleotide variant Likely pathogenic rs1555889308 GRCh38 Chromosome 22, 25231705: 25231705
12 CRYBB2 NM_000496.2(CRYBB2): c.161T> G (p.Val54Gly) single nucleotide variant Likely pathogenic rs1555888762 GRCh37 Chromosome 22, 25620991: 25620991
13 CRYBB2 NM_000496.2(CRYBB2): c.161T> G (p.Val54Gly) single nucleotide variant Likely pathogenic rs1555888762 GRCh38 Chromosome 22, 25225024: 25225024
14 CRYBB2 NM_000496.2(CRYBB2): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs146763276 GRCh37 Chromosome 22, 25623888: 25623888
15 CRYBB2 NM_000496.2(CRYBB2): c.242G> A (p.Arg81His) single nucleotide variant Uncertain significance rs146763276 GRCh38 Chromosome 22, 25227921: 25227921
16 CRYBB2 NM_000496.2(CRYBB2): c.481G> C (p.Gly161Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 25627602: 25627602
17 CRYBB2 NM_000496.2(CRYBB2): c.481G> C (p.Gly161Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 25231635: 25231635

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

Cellular components related to Cataract 3, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.02 ANTXR2 GAS1 OR4Q3 OR5AC2 P2RX1

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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