CTRCT10
MCID: CTR124
MIFTS: 23

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 58 76 13
Cataract, Congenital Zonular, with Sutural Opacities 58 30 6 74
Ctrct10 58 12 76
Cczs 58 12 76
Cataract 10 Multiple Types 12 15
Cataract, Congenital Zonular, with Sutural Opacities; Cczs 58
Cataract, Congenital, Zonular with Sutural Opacities 76
Congenital Zonular Cataract with Sutural Opacities 12
Cataract, Type 10, Multiple Types 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (17q11-q12)


HPO:

33
cataract 10, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110258
OMIM 58 600881
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1833229
SNOMED-CT via HPO 70 263681008 609587005 79410001
UMLS 74 C1833229

Summaries for Cataract 10, Multiple Types

UniProtKB/Swiss-Prot : 76 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, is also known as cataract, congenital zonular, with sutural opacities. An important gene associated with Cataract 10, Multiple Types is CRYBA1 (Crystallin Beta A1). Affiliated tissues include eye and cortex, and related phenotypes are posterior y-sutural cataract and developmental cataract

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

OMIM : 58 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)

Symptoms & Phenotypes for Cataract 10, Multiple Types

Human phenotypes related to Cataract 10, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 posterior y-sutural cataract 33 HP:0008031
2 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Eyes:
zonular cataract
y-shaped sutural cataract
bilateral congenital cataracts

Clinical features from OMIM:

600881

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 30 CRYBA1

Anatomical Context for Cataract 10, Multiple Types

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

42
Eye, Cortex

Publications for Cataract 10, Multiple Types

Articles related to Cataract 10, Multiple Types:

# Title Authors Year
1
A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. ( 14598164 )
2004
2
Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. ( 15016766 )
2004
3
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. ( 9788845 )
1998

Variations for Cataract 10, Multiple Types

ClinVar genetic disease variations for Cataract 10, Multiple Types:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBA1 CRYBA1, 3-BP DEL, 278GGA deletion Pathogenic
2 CRYBA1 NM_005208.4(CRYBA1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs117757092 GRCh37 Chromosome 17, 27580775: 27580775
3 CRYBA1 NM_005208.4(CRYBA1): c.475G> A (p.Gly159Ser) single nucleotide variant Benign rs117757092 GRCh38 Chromosome 17, 29253757: 29253757
4 CRYBA1 NM_005208.4(CRYBA1): c.500+1G> A single nucleotide variant Likely pathogenic rs775038545 GRCh37 Chromosome 17, 27580801: 27580801
5 CRYBA1 NM_005208.4(CRYBA1): c.500+1G> A single nucleotide variant Likely pathogenic rs775038545 GRCh38 Chromosome 17, 29253783: 29253783
6 CRYBA1 NM_005208.4(CRYBA1): c.74C> T (p.Pro25Leu) single nucleotide variant Benign rs142631461 GRCh37 Chromosome 17, 27576202: 27576202
7 CRYBA1 NM_005208.4(CRYBA1): c.74C> T (p.Pro25Leu) single nucleotide variant Benign rs142631461 GRCh38 Chromosome 17, 29249184: 29249184
8 CRYBA1 NM_005208.4(CRYBA1): c.530_538delGTGGGTATC (p.Arg177_Tyr179del) deletion Likely pathogenic rs1555547008 GRCh37 Chromosome 17, 27581249: 27581257
9 CRYBA1 NM_005208.4(CRYBA1): c.530_538delGTGGGTATC (p.Arg177_Tyr179del) deletion Likely pathogenic rs1555547008 GRCh38 Chromosome 17, 29254231: 29254239
10 CRYBA1 NM_005208.4(CRYBA1): c.215+1G> A single nucleotide variant Pathogenic rs1264025914 GRCh38 Chromosome 17, 29250301: 29250301
11 CRYBA1 NM_005208.4(CRYBA1): c.215+1G> A single nucleotide variant Pathogenic rs1264025914 GRCh37 Chromosome 17, 27577319: 27577319
12 CRYBA1 NM_005208.4(CRYBA1): c.607_608del (p.Gln203Aspfs) deletion Pathogenic GRCh38 Chromosome 17, 29254308: 29254309
13 CRYBA1 NM_005208.4(CRYBA1): c.607_608del (p.Gln203Aspfs) deletion Pathogenic GRCh37 Chromosome 17, 27581326: 27581327
14 CRYBA1 NM_005208.4(CRYBA1): c.215+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 27577319: 27577319
15 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

Sources for Cataract 10, 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
Content
Loading form....