CTRCT23
MCID: CTR182
MIFTS: 24

Cataract 23, Multiple Types (CTRCT23)

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

Aliases & Classifications for Cataract 23, Multiple Types

MalaCards integrated aliases for Cataract 23, Multiple Types:

Name: Cataract 23, Multiple Types 57 72 29 6
Cataract 23 57 12 70
Ctrct23 57 12 72
Lamellar Cataract 23 12 72
Cataract 23, Multiple Types, with or Without Microcornea 57
Microphthalmia, Isolated, with Cataract 4 70
Isolated Microphthalmia with Cataract 4 72
Cataract, Type 23 39
Mcopct4 72

Characteristics:

HPO:

31
cataract 23, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110271
OMIM® 57 610425
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 204128001 21590003 263681008
UMLS 70 C1864878 C3808012

Summaries for Cataract 23, Multiple Types

UniProtKB/Swiss-Prot : 72 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) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Cataract 23, Multiple Types

Human phenotypes related to Cataract 23, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 lamellar cataract 31 HP:0007971

Clinical features from OMIM®:

610425 (Updated 05-Apr-2021)

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:

40
Eye, Cortex

Publications for Cataract 23, Multiple Types

Articles related to Cataract 23, Multiple Types:

(show all 14)
# Title Authors PMID Year
1
A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 6 57
20577656 2010
2
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. 6 57
16960806 2006
3
Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. 6 57
15452067 2004
4
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract. 61
29914532 2018
5
Experiences with Thalidomide for Erythema Nodosum Leprosum– a retrospective study. 61
30212168 2016
6
Ocular Trauma Score in Siderosis Bulbi With Retained Intraocular Foreign Body. 61
26426616 2015
7
Long-term outcome and patterns of failure in primary ocular adnexal mucosa-associated lymphoid tissue lymphoma treated with radiotherapy. 61
21664061 2012
8
Ocular manifestations of Takayasu arteritis: a cross-sectional study. 61
21317836 2011
9
Causes of blindness among hospital outpatients in Ecuador. 61
16626429 2006
10
Group II phospholipase A2 content of tears in patients with senile cataract and primary open-angle glaucoma. 61
11936442 2002
11
[The results of clear lens extraction for anisometropia treatment in patients with high myopia and unilateral cataract]. 61
11873410 2001
12
Some Parameters of Immune Status in Children before and after Cataract Extraction with Intraocular Lens Implantation. 61
12687198 2000
13
Prevalence and causes of visual impairment in Italy. 61
8082963 1994
14
[Free fatty acid levels in the blood serum and aqueous humor of patients with cataract]. 61
2090863 1990

Variations for Cataract 23, Multiple Types

ClinVar genetic disease variations for Cataract 23, Multiple Types:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYBA4 NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser) SNV Pathogenic 16946 rs74315486 GRCh37: 22:27021567-27021567
GRCh38: 22:26625603-26625603
2 CRYBA4 NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro) SNV Pathogenic 16947 rs74315487 GRCh37: 22:27021492-27021492
GRCh38: 22:26625528-26625528
3 CRYBA4 NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp) SNV Pathogenic 427575 rs1114167427 GRCh37: 22:27021476-27021476
GRCh38: 22:26625512-26625512
4 CRYBA4 NM_001886.3(CRYBA4):c.443+1G>A SNV Pathogenic 997519 GRCh37: 22:27024395-27024395
GRCh38: 22:26628431-26628431
5 CRYBA4 NM_001886.3(CRYBA4):c.211C>T (p.Arg71Ter) SNV Pathogenic 1033453 GRCh37: 22:27021497-27021497
GRCh38: 22:26625533-26625533
6 CRYBA4 NM_001886.3(CRYBA4):c.198_200del (p.Gln66_Tyr67delinsHis) Deletion Likely pathogenic 965311 GRCh37: 22:27021483-27021485
GRCh38: 22:26625519-26625521
7 CRYBA4 NM_001886.3(CRYBA4):c.40-1G>C SNV Conflicting interpretations of pathogenicity 217347 rs142090709 GRCh37: 22:27019197-27019197
GRCh38: 22:26623233-26623233
8 CRYBA4 NM_001886.3(CRYBA4):c.214G>A (p.Gly72Ser) SNV Uncertain significance 1024884 GRCh37: 22:27021500-27021500
GRCh38: 22:26625536-26625536
9 CRYBA4 NM_001886.3(CRYBA4):c.26C>T (p.Ala9Val) SNV Uncertain significance 1027167 GRCh37: 22:27018586-27018586
GRCh38: 22:26622622-26622622
10 CRYBA4 NM_001886.3(CRYBA4):c.262G>T (p.Ala88Ser) SNV Uncertain significance 856281 GRCh37: 22:27021548-27021548
GRCh38: 22:26625584-26625584
11 CRYBA4 NM_001886.3(CRYBA4):c.575G>C (p.Arg192Pro) SNV Uncertain significance 934986 GRCh37: 22:27026435-27026435
GRCh38: 22:26630471-26630471
12 CRYBA4 NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) SNV Uncertain significance 947630 GRCh37: 22:27026324-27026324
GRCh38: 22:26630360-26630360
13 CRYBA4 NM_001886.3(CRYBA4):c.136T>C (p.Ser46Pro) SNV Uncertain significance 962636 GRCh37: 22:27019294-27019294
GRCh38: 22:26623330-26623330
14 CRYBA4 NM_001886.3(CRYBA4):c.169T>G (p.Phe57Val) SNV Uncertain significance 964315 GRCh37: 22:27021455-27021455
GRCh38: 22:26625491-26625491
15 CRYBA4 NM_001886.3(CRYBA4):c.352A>G (p.Lys118Glu) SNV Uncertain significance 566141 rs1305546354 GRCh37: 22:27024303-27024303
GRCh38: 22:26628339-26628339
16 CRYBA4 NM_001886.3(CRYBA4):c.65T>C (p.Phe22Ser) SNV Uncertain significance 658406 rs1602338380 GRCh37: 22:27019223-27019223
GRCh38: 22:26623259-26623259
17 CRYBA4 NM_001886.3(CRYBA4):c.227G>C (p.Ser76Thr) SNV Uncertain significance 661895 rs776573050 GRCh37: 22:27021513-27021513
GRCh38: 22:26625549-26625549
18 CRYBA4 NM_001886.3(CRYBA4):c.158+1G>A SNV Likely benign 798145 rs752903519 GRCh37: 22:27019317-27019317
GRCh38: 22:26623353-26623353
19 CRYBA4 NM_001886.3(CRYBA4):c.61G>A (p.Gly21Ser) SNV Likely benign 732871 rs201421932 GRCh37: 22:27019219-27019219
GRCh38: 22:26623255-26623255
20 CRYBA4 NM_001886.3(CRYBA4):c.40-5C>T SNV Benign 767515 rs751503329 GRCh37: 22:27019193-27019193
GRCh38: 22:26623229-26623229
21 CRYBA4 NM_001886.3(CRYBA4):c.216C>T (p.Gly72=) SNV Benign 702288 rs148454808 GRCh37: 22:27021502-27021502
GRCh38: 22:26625538-26625538
22 CRYBA4 NM_001886.3(CRYBA4):c.465G>A (p.Pro155=) SNV Benign 702372 rs117467748 GRCh37: 22:27026325-27026325
GRCh38: 22:26630361-26630361
23 CRYBA4 NM_001886.3(CRYBA4):c.307C>T (p.Arg103Cys) SNV Benign 474085 rs149353652 GRCh37: 22:27024258-27024258
GRCh38: 22:26628294-26628294
24 CRYBA4 NM_001886.3(CRYBA4):c.324A>T (p.Thr108=) SNV Benign 474086 rs143137736 GRCh37: 22:27024275-27024275
GRCh38: 22:26628311-26628311
25 CRYBA4 NM_001886.3(CRYBA4):c.106G>A (p.Val36Met) SNV Benign 258485 rs35520672 GRCh37: 22:27019264-27019264
GRCh38: 22:26623300-26623300

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

72
# 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 rs111416742

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....