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CTRCT32
MCID: CTR119
MIFTS: 20

Cataract 32, Multiple Types (CTRCT32)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Cataract 32, Multiple Types

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MalaCards integrated aliases for Cataract 32, Multiple Types:

Name: Cataract 32, Multiple Types 57 72
Cataract, Posterior Polar, 5 57 53 72
Ctpp5 57 12 53
Cataract, Anterior Polar 57 72
Ctrct32 57 12
Ctaa1 57 12
Cap 57 75
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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Eye diseases Nephrological diseases Neuronal diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0110227
ICD10 33 Q12.0
MedGen 42 C3887926
UMLS 72 C1855179 C1857718 C3887926
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Summaries for Cataract 32, Multiple Types

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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.

More information from OMIM: 115650 PS116200
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Related Diseases for Cataract 32, Multiple Types

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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 32, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 24 12.2
2 early-onset anterior polar cataract 11.8
3 cataract 10.2

Sources

Symptoms & Phenotypes for Cataract 32, Multiple Types

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Human phenotypes related to Cataract 32, Multiple Types:

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

115650
Sources

Drugs & Therapeutics for Cataract 32, Multiple Types

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

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Genetic Tests for Cataract 32, Multiple Types

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Anatomical Context for Cataract 32, Multiple Types

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

41
Eye
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Publications for Cataract 32, Multiple Types

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Articles related to Cataract 32, Multiple Types:

# Title Authors PMID Year
1
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23. 8
17047090 2006
2
Arrhythmogenic right ventricular dysplasia and anterior polar cataract. 8
9409860 1997
3
Chromosome 14-terminal deletion and cataracts. 8
1497515 1992
4
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. 8
6694185 1984
5
Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea. 38
7088001 1982
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Variations for Cataract 32, Multiple Types

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Expression for Cataract 32, Multiple Types

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

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GO Terms for Cataract 32, Multiple Types

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Sources

Sources for Cataract 32, Multiple Types

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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