CTAA2
MCID: CTR175
MIFTS: 29

Cataract 24 (CTAA2)

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 57 12 15
Anterior Polar Cataract 2 12 73
Ctrct24 57 12
Ctaa2 57 12
Early-Onset Anterior Subcapsular Cataract 59
Early-Onset Anterior Polar Cataract 59
Cataract, Anterior Polar, 2; Ctaa2 57
Cataract 24, Anterior Polar 57
Cataract, Anterior Polar, 2 57
Anterior Polar Cataract 24 12
Cataract, Anterior Polar 2 13

Characteristics:

Orphanet epidemiological data:

59
early-onset anterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601202
Disease Ontology 12 DOID:0110257
ICD10 33 Q12.0
Orphanet 59 ORPHA98988
MESH via Orphanet 45 C538282
UMLS via Orphanet 74 C1855179
ICD10 via Orphanet 34 Q12.0
MedGen 42 C1832609
SNOMED-CT via HPO 69 263681008 387742006
UMLS 73 C1832609

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)

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 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 31.2 CRYAA CRYBA2 CRYBB3 CRYGB CTAA2
2 edict syndrome 11.7
3 early-onset anterior polar cataract 11.2
4 perrault syndrome 1 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 9.8 CRYAA CRYBA2 CRYBB3
9 pinguecula 9.8 CRYAA TP53

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



Diseases related to Cataract 24

Symptoms & Phenotypes for Cataract 24

Symptoms via clinical synopsis from OMIM:

57
Eyes:
anterior polar cataract


Clinical features from OMIM:

601202

Human phenotypes related to Cataract 24:

32
# Description HPO Frequency HPO Source Accession
1 amblyopia 32 very rare (1%) HP:0000646
2 anterior polar cataract 32 very rare (1%) HP:0001134

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:

41
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 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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