CTRCT10
MCID: CTR124
MIFTS: 27

Cataract 10, Multiple Types (CTRCT10)

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

Aliases & Classifications for Cataract 10, Multiple Types

MalaCards integrated aliases for Cataract 10, Multiple Types:

Name: Cataract 10, Multiple Types 57 75 13
Cataract, Congenital Zonular, with Sutural Opacities 57 29 6 73
Ctrct10 57 12 75
Cczs 57 12 75
Cataract 10 Multiple Types 12 15
Cataract, Congenital Zonular, with Sutural Opacities; Cczs 57
Cataract, Congenital, Zonular with Sutural Opacities 75
Congenital Zonular Cataract with Sutural Opacities 12
Cataract, Type 10, Multiple Types 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (17q11-q12)


HPO:

32
cataract 10, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600881
Disease Ontology 12 DOID:0110258
ICD10 33 Q12.0
MedGen 42 C1833229
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008 609587005 79410001
UMLS 73 C1833229

Summaries for Cataract 10, Multiple Types

UniProtKB/Swiss-Prot : 75 Cataract 10, 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. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

MalaCards based summary : Cataract 10, Multiple Types, also known as cataract, congenital zonular, with sutural opacities, is related to cataract and early-onset nuclear cataract. An important gene associated with Cataract 10, Multiple Types is CRYBA1 (Crystallin Beta A1). Affiliated tissues include eye and cortex, and related phenotypes are congenital cataract and posterior y-sutural cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CRYBA1 gene on chromosome 17q11.

OMIM : 57 Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.' (600881)

Related Diseases for Cataract 10, Multiple Types

Symptoms & Phenotypes for Cataract 10, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Eyes:
zonular cataract
y-shaped sutural cataract
bilateral congenital cataracts


Clinical features from OMIM:

600881

Human phenotypes related to Cataract 10, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519
2 posterior y-sutural cataract 32 HP:0008031

Drugs & Therapeutics for Cataract 10, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 10, Multiple Types

Genetic Tests for Cataract 10, Multiple Types

Genetic tests related to Cataract 10, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Congenital Zonular, with Sutural Opacities 29 CRYBA1

Anatomical Context for Cataract 10, Multiple Types

MalaCards organs/tissues related to Cataract 10, Multiple Types:

41
Eye, Cortex

Publications for Cataract 10, Multiple Types

Variations for Cataract 10, Multiple Types

ClinVar genetic disease variations for Cataract 10, Multiple Types:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBA1 CRYBA1, IVS3DS, G-A, +1 deletion Pathogenic
2 CRYBA1 CRYBA1, 3-BP DEL, 278GGA deletion Pathogenic
3 CRYBA1 NM_005208.4(CRYBA1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs117757092 GRCh37 Chromosome 17, 27580775: 27580775
4 CRYBA1 NM_005208.4(CRYBA1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs117757092 GRCh38 Chromosome 17, 29253757: 29253757
5 CRYBA1 NM_005208.4(CRYBA1): c.500+1G> A single nucleotide variant Likely pathogenic rs775038545 GRCh37 Chromosome 17, 27580801: 27580801
6 CRYBA1 NM_005208.4(CRYBA1): c.500+1G> A single nucleotide variant Likely pathogenic rs775038545 GRCh38 Chromosome 17, 29253783: 29253783
7 CRYBA1 NM_005208.4(CRYBA1): c.74C> T (p.Pro25Leu) single nucleotide variant Benign rs142631461 GRCh37 Chromosome 17, 27576202: 27576202
8 CRYBA1 NM_005208.4(CRYBA1): c.74C> T (p.Pro25Leu) single nucleotide variant Benign rs142631461 GRCh38 Chromosome 17, 29249184: 29249184
9 CRYBA1 NM_005208.4(CRYBA1): c.530_538delGTGGGTATC (p.Arg177_Tyr179del) deletion Likely pathogenic GRCh37 Chromosome 17, 27581249: 27581257
10 CRYBA1 NM_005208.4(CRYBA1): c.530_538delGTGGGTATC (p.Arg177_Tyr179del) deletion Likely pathogenic GRCh38 Chromosome 17, 29254231: 29254239
11 CRYBA1 NM_005208.4(CRYBA1): c.607_608del (p.Gln203Aspfs) deletion Pathogenic GRCh38 Chromosome 17, 29254308: 29254309
12 CRYBA1 NM_005208.4(CRYBA1): c.607_608del (p.Gln203Aspfs) deletion Pathogenic GRCh37 Chromosome 17, 27581326: 27581327
13 CRYBA1 NM_005208.4(CRYBA1): c.215+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 27577319: 27577319
14 CRYBA1 NM_005208.4(CRYBA1): c.215+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 29250301: 29250301

Expression for Cataract 10, Multiple Types

Search GEO for disease gene expression data for Cataract 10, Multiple Types.

Pathways for Cataract 10, Multiple Types

GO Terms for Cataract 10, Multiple Types

Biological processes related to Cataract 10, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 8.62 CRYAB CRYBA1

Molecular functions related to Cataract 10, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.62 CRYAB CRYBA1

Sources for Cataract 10, 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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