MCID: CTR182
MIFTS: 20

Cataract 23, Multiple Types

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

Aliases & Classifications for Cataract 23, Multiple Types

MalaCards integrated aliases for Cataract 23, Multiple Types:

Name: Cataract 23, Multiple Types 57 75 29 6
Cataract 23 57 12 73
Ctrct23 57 12 75
Lamellar Cataract 23 12 75
Cataract 23, Multiple Types, with or Without Microcornea 57
Microphthalmia, Isolated, with Cataract 4 73
Isolated Microphthalmia with Cataract 4 75
Cataract, Type 23 40
Mcopct4 75

Characteristics:

HPO:

32
cataract 23, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610425
Disease Ontology 12 DOID:0110271
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 263681008 204128001 21590003

Summaries for Cataract 23, Multiple Types

UniProtKB/Swiss-Prot : 75 Cataract 23, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. 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 23, Multiple Types, is also known as cataract 23. An important gene associated with Cataract 23, Multiple Types is CRYBA4 (Crystallin Beta A4). Affiliated tissues include eye and cortex, and related phenotype is lamellar cataract.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.

OMIM : 57 Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear. (610425)

Symptoms & Phenotypes for Cataract 23, Multiple Types

Clinical features from OMIM:

610425

Human phenotypes related to Cataract 23, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 lamellar cataract 32 HP:0007971

Drugs & Therapeutics for Cataract 23, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 23, Multiple Types

Genetic Tests for Cataract 23, Multiple Types

Genetic tests related to Cataract 23, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 23, Multiple Types 29 CRYBA4

Anatomical Context for Cataract 23, Multiple Types

MalaCards organs/tissues related to Cataract 23, Multiple Types:

41
Eye, Cortex

Publications for Cataract 23, Multiple Types

Variations for Cataract 23, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 23, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 CRYBA4 p.Leu69Pro VAR_029528 rs74315487
2 CRYBA4 p.Phe94Ser VAR_029529 rs74315486
3 CRYBA4 p.Gly64Trp VAR_078868

ClinVar genetic disease variations for Cataract 23, Multiple Types:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYBA4 NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser) single nucleotide variant Pathogenic rs74315486 GRCh37 Chromosome 22, 27021567: 27021567
2 CRYBA4 NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser) single nucleotide variant Pathogenic rs74315486 GRCh38 Chromosome 22, 26625603: 26625603
3 CRYBA4 NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro) single nucleotide variant Pathogenic rs74315487 GRCh37 Chromosome 22, 27021492: 27021492
4 CRYBA4 NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro) single nucleotide variant Pathogenic rs74315487 GRCh38 Chromosome 22, 26625528: 26625528
5 CRYBA4 NM_001886.2(CRYBA4): c.106G> A (p.Val36Met) single nucleotide variant Benign rs35520672 GRCh38 Chromosome 22, 26623300: 26623300
6 CRYBA4 NM_001886.2(CRYBA4): c.106G> A (p.Val36Met) single nucleotide variant Benign rs35520672 GRCh37 Chromosome 22, 27019264: 27019264
7 CRYBA4 NM_001886.2(CRYBA4): c.190G> T (p.Gly64Trp) single nucleotide variant Pathogenic rs1114167427 GRCh38 Chromosome 22, 26625512: 26625512
8 CRYBA4 NM_001886.2(CRYBA4): c.190G> T (p.Gly64Trp) single nucleotide variant Pathogenic rs1114167427 GRCh37 Chromosome 22, 27021476: 27021476
9 CRYBA4 NM_001886.2(CRYBA4): c.307C> T (p.Arg103Cys) single nucleotide variant Benign rs149353652 GRCh38 Chromosome 22, 26628294: 26628294
10 CRYBA4 NM_001886.2(CRYBA4): c.307C> T (p.Arg103Cys) single nucleotide variant Benign rs149353652 GRCh37 Chromosome 22, 27024258: 27024258
11 CRYBA4 NM_001886.2(CRYBA4): c.324A> T (p.Thr108=) single nucleotide variant Benign rs143137736 GRCh37 Chromosome 22, 27024275: 27024275
12 CRYBA4 NM_001886.2(CRYBA4): c.324A> T (p.Thr108=) single nucleotide variant Benign rs143137736 GRCh38 Chromosome 22, 26628311: 26628311

Expression for Cataract 23, Multiple Types

Search GEO for disease gene expression data for Cataract 23, Multiple Types.

Pathways for Cataract 23, Multiple Types

GO Terms for Cataract 23, Multiple Types

Sources for Cataract 23, 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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