CTRCT24
MCID: CTR175
MIFTS: 27

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 58 12 15
Anterior Polar Cataract 2 12 74
Ctrct24 58 12
Ctaa2 58 12
Early-Onset Anterior Subcapsular Cataract 60
Early-Onset Anterior Polar Cataract 60
Cataract, Anterior Polar, 2; Ctaa2 58
Cataract 24, Anterior Polar 58
Cataract, Anterior Polar, 2 58
Anterior Polar Cataract 24 12
Cataract, Anterior Polar-2 13

Characteristics:

Orphanet epidemiological data:

60
early-onset anterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110257
OMIM 58 601202
ICD10 34 Q12.0
MESH via Orphanet 46 C538282
ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C1855179
Orphanet 60 ORPHA98988
MedGen 43 C1832609
SNOMED-CT via HPO 70 263681008 387742006
UMLS 74 C1832609

Summaries for Cataract 24

OMIM : 58 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 CRYBA2 (Crystallin Beta A2). Affiliated tissues include eye, 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 46, Juvenile-Onset 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:

# Related Disease Score Top Affiliating Genes
1 cataract 31.6 CRYAA CRYBB3 CRYGB
2 edict syndrome 11.8
3 early-onset anterior polar cataract 11.2
4 cone-rod dystrophy and hearing loss 2 11.1
5 mature cataract 10.0 CRYAA CRYGB
6 cataract 44 9.9 CRYAA CRYGB
7 cataract 16, multiple types 9.9 CRYAA CRYGB
8 early-onset nuclear cataract 9.7 CRYAA CRYBA2 CRYBB3
9 pinguecula 9.7 CRYAA TP53

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:

33
# Description HPO Frequency HPO Source Accession
1 amblyopia 33 very rare (1%) HP:0000646
2 anterior polar cataract 33 very rare (1%) HP:0001134

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye

Publications for Cataract 24

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 lens development in camera-type eye GO:0002088 8.96 CRYBA2 CRYGB
2 visual perception GO:0007601 8.8 CRYAA CRYBB3 CRYGB

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 8.92 CRYAA CRYBA2 CRYBB3 CRYGB

Sources for Cataract 24

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
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