CAP
MCID: CTR119
MIFTS: 23

Cataract 32, Multiple Types (CAP)

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

Aliases & Classifications for Cataract 32, Multiple Types

MalaCards integrated aliases for Cataract 32, Multiple Types:

Name: Cataract 32, Multiple Types 58 74
Cataract, Posterior Polar, 5 58 54 13 74
Ctpp5 58 12 54
Cataract, Anterior Polar 58 74
Ctrct32 58 12
Ctaa1 58 12
Cap 58 77
Cataract, Posterior Polar, 5; Ctpp5 58
Cataract, Anterior Polar, 1; Ctaa1 58
Cataract, Anterior Polar; Cap 58
Cataract, Anterior Polar, 1 58
Cataract 32 Multiple Types 12
Posterior Polar Cataract 5 12
Cataract, Anterior Polar 1 13
Anterior Polar Cataract 1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 32, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110227
OMIM 58 115650
ICD10 34 Q12.0
MedGen 43 C3887926
SNOMED-CT via HPO 70 263681008

Summaries for Cataract 32, Multiple Types

Disease Ontology : 12 A cataract that has material basis in mutation in the region 14q22-q23.

MalaCards based summary : Cataract 32, Multiple Types, also known as cataract, posterior polar, 5, is related to cataract 24 and early-onset anterior polar cataract. An important gene associated with Cataract 32, Multiple Types is CTAA1 (Cataract, Anterior Polar 1). Affiliated tissues include eye, and related phenotype is anterior polar cataract.

Wikipedia : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Description from OMIM: 115650

Related Diseases for Cataract 32, Multiple Types

Symptoms & Phenotypes for Cataract 32, Multiple Types

Human phenotypes related to Cataract 32, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 anterior polar cataract 33 HP:0001134

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, anterior polar, nonprogressive
vision usually normal

Clinical features from OMIM:

115650

Drugs & Therapeutics for Cataract 32, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 32, Multiple Types

Genetic Tests for Cataract 32, Multiple Types

Anatomical Context for Cataract 32, Multiple Types

MalaCards organs/tissues related to Cataract 32, Multiple Types:

42
Eye

Publications for Cataract 32, Multiple Types

Variations for Cataract 32, Multiple Types

Expression for Cataract 32, Multiple Types

Search GEO for disease gene expression data for Cataract 32, Multiple Types.

Pathways for Cataract 32, Multiple Types

GO Terms for Cataract 32, Multiple Types

Sources for Cataract 32, Multiple Types

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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