CTRCT24
MCID: CTR175
MIFTS: 29

Cataract 24 (CTRCT24)

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

Aliases & Classifications for Cataract 24

MalaCards integrated aliases for Cataract 24:

Name: Cataract 24 56 12 15
Anterior Polar Cataract 2 12 71
Ctrct24 56 12
Ctaa2 56 12
Early-Onset Anterior Subcapsular Cataract 58
Early-Onset Anterior Polar Cataract 58
Cataract, Anterior Polar, 2; Ctaa2 56
Cataract 24, Anterior Polar 56
Cataract, Anterior Polar, 2 56
Anterior Polar Cataract 24 12
Cataract, Anterior Polar-2 13

Characteristics:

Orphanet epidemiological data:

58
early-onset anterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 24:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110257
OMIM 56 601202
OMIM Phenotypic Series 56 PS116200
ICD10 32 Q12.0
MESH via Orphanet 44 C538282
ICD10 via Orphanet 33 Q12.0
UMLS via Orphanet 72 C1855179
Orphanet 58 ORPHA98988
MedGen 41 C1832609
SNOMED-CT via HPO 68 263681008 387742006
UMLS 71 C1832609

Summaries for Cataract 24

OMIM : 56 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)

MalaCards based summary : Cataract 24, also known as anterior polar cataract 2, is related to cataract and edict syndrome. 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 : 12 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 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 cataract 30.6 TP53 CTAA2 CRYGB CRYBB3 CRYBA2 CRYAA
2 edict syndrome 11.9
3 early-onset anterior polar cataract 11.3
4 cataract 48 10.3 CRYBA2 CRYAA
5 early-onset lamellar cataract 10.3 CRYGB CRYAA
6 triosephosphate isomerase deficiency 10.3 CRYBB3 CRYAA
7 galactosemia ii 10.3 CRYBB3 CRYAA
8 mature cataract 10.3 CRYGB CRYAA
9 cataract 44 10.2 CRYGB CRYAA
10 lens subluxation 10.2 CRYBA2 CRYAA
11 diabetic cataract 10.2 CRYGB CRYAA
12 nance-horan syndrome 10.2 CRYBB3 CRYAA
13 interstitial keratitis 10.1 MRAP CRYAA
14 ochronosis 10.1 MRAP CRYAA
15 macular dystrophy, dominant cystoid 10.1 MRAP CRYAA
16 blood group, globoside system 10.1 MRAP CRYAA
17 macular retinal edema 10.1 MRAP CRYAA
18 early-onset nuclear cataract 10.1 CRYBB3 CRYBA2 CRYAA
19 endophthalmitis 10.0 MRAP CRYAA
20 erythrokeratodermia variabilis et progressiva 1 10.0 CRYBB3 CRYAA
21 iris disease 10.0 MRAP CRYAA
22 sorsby fundus dystrophy 10.0 MRAP CRYAA
23 amblyopia 9.9 CRYBB3 CRYAA
24 spinal and bulbar muscular atrophy, x-linked 1 9.8 FMR1 CRYAA
25 short syndrome 9.5 TP53 MRAP CRYAA
26 peripheral nervous system disease 9.4 TP53 MRAP CRYAA
27 cerebellar disease 9.4 PAFAH1B1 FMR1
28 pervasive developmental disorder 9.3 PAFAH1B1 MRAP FMR1

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:

31
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 very rare (1%) HP:0000646
2 anterior polar cataract 31 very rare (1%) HP:0001134

Symptoms via clinical synopsis from OMIM:

56
Eyes:
anterior polar cataract

Clinical features from OMIM:

601202

Drugs & Therapeutics for Cataract 24

Search Clinical Trials , NIH Clinical Center for Cataract 24

Genetic Tests for Cataract 24

Anatomical Context for Cataract 24

MalaCards organs/tissues related to Cataract 24:

40
Eye, Liver

Publications for Cataract 24

Articles related to Cataract 24:

(show all 14)
# Title Authors PMID Year
1
The genetics of cataract: our vision becomes clearer. 56
9497271 1998
2
A locus for autosomal dominant anterior polar cataract on chromosome 17p. 56
8852669 1996
3
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. 56
6694185 1984
4
Phacoemulsification and primary implantation with bag-in-the-lens intraocular lens in children with unilateral and bilateral cataract. 61
29350795 2018
5
Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center. 61
28449695 2017
6
[Comparison of visual acuity measured using Landolt-C and ETDRS charts in healthy subjects and patients with various eye diseases]. 61
21997822 2011
7
Current health status of patients who have survived for more than 15 years after liver transplantation. 61
17675671 2007
8
Does botulinum toxin have a role in the treatment of secondary strabismus?*. 61
16020360 2005
9
The development of the Indian vision function questionnaire: questionnaire content. 61
15774932 2005
10
Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. 61
12118455 2002
11
[Comparison of visual results and quality of vision between two multifocal intraocular lenses. Multifocal silicone and bifocal PMMA]. 61
10794984 2000
12
[Surgical suction in cataract extraction. Postoperative follow-up in 219 cases over 16 years of age]. 61
10067329 1999
13
Trabeculectomy: complications and success in IOP control. 61
9293142 1997
14
Glutathione S-transferase M1 genotype and age-related cataracts. Lack of association in an Italian population. 61
8631631 1996

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 9.26 CRYGB CRYBB3 CRYBA2 CRYAA
2 cellular response to UV GO:0034644 9.16 TP53 FMR1
3 lens development in camera-type eye GO:0002088 8.8 CRYGB CRYBB3 CRYBA2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.43 TP53 PAFAH1B1 MRAP FMR1 CRYBA2 CRYAA
2 dynein complex binding GO:0070840 9.16 PAFAH1B1 FMR1
3 structural constituent of eye lens GO:0005212 8.92 CRYGB CRYBB3 CRYBA2 CRYAA

Sources for Cataract 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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