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 57 73
Cataract, Posterior Polar, 5 57 53 13 73
Ctpp5 57 12 53
Cataract, Anterior Polar 57 73
Ctrct32 57 12
Ctaa1 57 12
Cap 57 76
Cataract, Posterior Polar, 5; Ctpp5 57
Cataract, Anterior Polar, 1; Ctaa1 57
Cataract, Anterior Polar; Cap 57
Cataract, Anterior Polar, 1 57
Cataract 32 Multiple Types 12
Posterior Polar Cataract 5 12
Cataract, Anterior Polar 1 13
Anterior Polar Cataract 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 32, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115650
Disease Ontology 12 DOID:0110227
ICD10 33 Q12.0
MedGen 42 C3887926
SNOMED-CT via HPO 69 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Description from OMIM: 115650

Related Diseases for Cataract 32, Multiple Types

Symptoms & Phenotypes for Cataract 32, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, anterior polar, nonprogressive
vision usually normal


Clinical features from OMIM:

115650

Human phenotypes related to Cataract 32, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 anterior polar cataract 32 HP:0001134

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:

41
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 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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