CTRCT24
MCID: CTR175
MIFTS: 30

Cataract 24 (CTRCT24)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cataract 24

MalaCards integrated aliases for Cataract 24:

Name: Cataract 24 57 11 14
Early-Onset Anterior Subcapsular Cataract 19 58
Early-Onset Anterior Polar Cataract 19 58
Cataract 24, Anterior Polar 57 19
Cataract, Anterior Polar, 2 57 19
Anterior Polar Cataract 2 11 71
Ctrct24 57 11
Ctaa2 57 11
Anterior Polar Cataract 24 11
Cataract, Anterior Polar-2 12
Cataract, Anterior Polar 71
Cataract Anterior Polar 19

Characteristics:


Inheritance:

Cataract 24: Autosomal dominant 57
Early-Onset Anterior Polar Cataract: Autosomal dominant 58

Age Of Onset:

Early-Onset Anterior Polar Cataract: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0110257
OMIM® 57 601202
OMIM Phenotypic Series 57 PS116200
ICD10 31 Q12.0
MESH via Orphanet 44 C538282
ICD10 via Orphanet 32 Q12.0
UMLS via Orphanet 72 C1855179
Orphanet 58 ORPHA98988
MedGen 40 C1832609
SNOMED-CT via HPO 69 387742006
UMLS 71 C1832609 C1855179

Summaries for Cataract 24

OMIM®: 57 Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984). The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.' (601202) (Updated 08-Dec-2022)

MalaCards based summary: Cataract 24, also known as early-onset anterior subcapsular cataract, is related to cataract and cataract 32, multiple types. An important gene associated with Cataract 24 is CRYAA (Crystallin Alpha A). Affiliated tissues include eye and liver, and related phenotypes are amblyopia and anterior polar cataract

Disease Ontology: 11 A cataract that has material basis in variation in the region 17p13.

Related Diseases for Cataract 24

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 49 Cataract 30
Cataract 33 Cataract Congenital Autosomal Dominant

Diseases related to Cataract 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cataract 30.6 TP53 CTAA2 CRYGB CRYBB3 CRYBA2 CRYAA
2 cataract 32, multiple types 11.6
3 edict syndrome 11.5
4 amblyopia 10.2 CRYBB3 CRYAA
5 early-onset lamellar cataract 10.1 CRYGB CRYAA
6 immature cataract 10.1 CRYGB CRYAA
7 night blindness, congenital stationary, type 2a 10.1 CRYGB CRYAA
8 congenital aphakia 10.1 CRYGB CRYAA
9 cataract 18 10.1 CRYGB CRYAA
10 galactosemia ii 10.1 CRYBB3 CRYAA
11 presbyopia 10.1 CRYGB CRYAA
12 eye accommodation disease 10.1 CRYGB CRYAA
13 nance-horan syndrome 10.1 CRYBB3 CRYAA
14 diabetic cataract 10.1 CRYGB CRYAA
15 cataract 44 10.1 CRYGB CRYAA
16 phimosis 10.0 TP53 CRYAA
17 persistent hyperplastic primary vitreous 10.0 TP53 CRYAA
18 lens disease 10.0 CRYBB3 CRYAA
19 short syndrome 10.0 TP53 CRYAA
20 early-onset nuclear cataract 10.0 CRYBB3 CRYBA2 CRYAA
21 aniridia 1 10.0 CRYBB3 CRYBA2 CRYAA
22 cataract 48 10.0 CRYGB CRYBA2 CRYAA
23 deprivation amblyopia 10.0 CRYGB CRYBB3 CRYAA
24 abruzzo-erickson syndrome 10.0 CRYGB CRYBB3 CRYAA
25 senile cataract 9.9 CRYGB CRYBB3 CRYAA
26 wilson disease 9.8 TP53 CRYAA
27 spinal and bulbar muscular atrophy, x-linked 1 9.8 FMR1 CRYAA
28 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 9.7 TP53 FMR1
29 autosomal recessive cerebellar ataxia 9.7 TP53 FMR1
30 chromosomal duplication syndrome 9.7 TP53 FMR1 CRYAA
31 hereditary ataxia 9.7 TP53 FMR1 CRYAA
32 cerebellar disease 9.6 TP53 FMR1 CRYAA
33 syndromic x-linked intellectual disability 9.6 TP53 FMR1
34 peripheral nervous system disease 9.3 TP53 FMR1 CRYAA

Graphical network of the top 20 diseases related to Cataract 24:



Diseases related to Cataract 24

Symptoms & Phenotypes for Cataract 24

Human phenotypes related to Cataract 24:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 amblyopia 30 Very rare (1%) HP:0000646
2 anterior polar cataract 30 Very rare (1%) HP:0001134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
anterior polar cataract

Clinical features from OMIM®:

601202 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cataract 24

Search Clinical Trials, NIH Clinical Center for Cataract 24

Genetic Tests for Cataract 24

Anatomical Context for Cataract 24

Organs/tissues related to Cataract 24:

MalaCards : Eye, Liver

Publications for Cataract 24

Articles related to Cataract 24:

(show all 20)
# Title Authors PMID Year
1
The genetics of cataract: our vision becomes clearer. 57
9497271 1998
2
A locus for autosomal dominant anterior polar cataract on chromosome 17p. 57
8852669 1996
3
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. 57
6694185 1984
4
Economic Impact Analysis of Custom PakĀ® on Cataract and Vitreoretinal Surgery in the United States. 62
36389103 2022
5
Phacoemulsification and primary implantation with bag-in-the-lens intraocular lens in children with unilateral and bilateral cataract. 62
29350795 2018
6
Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center. 62
28449695 2017
7
C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain. 62
24138095 2015
8
Mutational analysis of MIR184 in sporadic keratoconus and myopia. 62
23833072 2013
9
Mutation altering the miR-184 seed region causes familial keratoconus with cataract. 62
21996275 2011
10
[Comparison of visual acuity measured using Landolt-C and ETDRS charts in healthy subjects and patients with various eye diseases]. 62
21997822 2011
11
Current health status of patients who have survived for more than 15 years after liver transplantation. 62
17675671 2007
12
Does botulinum toxin have a role in the treatment of secondary strabismus?*. 62
16020360 2005
13
The development of the Indian vision function questionnaire: questionnaire content. 62
15774932 2005
14
Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. 62
12118455 2002
15
[Comparison of visual results and quality of vision between two multifocal intraocular lenses. Multifocal silicone and bifocal PMMA]. 62
10794984 2000
16
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus. 62
10828595 2000
17
[Surgical suction in cataract extraction. Postoperative follow-up in 219 cases over 16 years of age]. 62
10067329 1999
18
Trabeculectomy: complications and success in IOP control. 62
9293142 1997
19
Glutathione S-transferase M1 genotype and age-related cataracts. Lack of association in an Italian population. 62
8631631 1996
20
Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea. 62
7088001 1982

Variations for Cataract 24

Expression for Cataract 24

Search GEO for disease gene expression data for Cataract 24.

Pathways for Cataract 24

GO Terms for Cataract 24

Biological processes related to Cataract 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.56 CRYGB CRYBB3 CRYBA2 CRYAA
2 lens development in camera-type eye GO:0002088 9.23 CRYGB CRYBB3 CRYBA2 CRYAA

Molecular functions related to Cataract 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.23 CRYGB CRYBB3 CRYBA2 CRYAA

Sources for Cataract 24

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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