CTRCT32
MCID: CTR119
MIFTS: 29

Cataract 32, Multiple Types (CTRCT32)

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 56 71
Cataract, Posterior Polar, 5 56 52 71
Ctpp5 56 12 52
Cataract 32 Multiple Types 12 15
Cataract, Anterior Polar 56 71
Ctrct32 56 12
Ctaa1 56 12
Cap 56 74
Cataract, Posterior Polar, 5; Ctpp5 56
Cataract, Anterior Polar, 1; Ctaa1 56
Cataract, Anterior Polar; Cap 56
Cataract, Anterior Polar, 1 56
Posterior Polar Cataract 5 12
Cataract, Anterior Polar-1 13
Anterior Polar Cataract 1 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 32, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110227
OMIM 56 115650
OMIM Phenotypic Series 56 PS116200
ICD10 32 Q12.0
MedGen 41 C3887926
SNOMED-CT via HPO 68 263681008
UMLS 71 C1855179 C1857718 C3887926

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 and cataract 24. An important gene associated with Cataract 32, Multiple Types is CTAA1 (Cataract, Anterior Polar 1), and among its related pathways/superpathways are Necroptosis and Autophagy Pathway. Affiliated tissues include eye, and related phenotype is anterior polar cataract.

More information from OMIM: 115650 PS116200

Related Diseases for Cataract 32, Multiple Types

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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cataract 29.0 TMEM114 CRYBA1 CRYAA CHMP4B
2 cataract 24 12.2
3 early-onset anterior polar cataract 11.8
4 early-onset lamellar cataract 9.9 CRYBA1 CRYAA
5 leukocoria 9.9 CRYBA1 CRYAA
6 amblyopia 9.9 CRYAA CHMP4B
7 early-onset nuclear cataract 9.8 CRYBA1 CRYAA
8 galactokinase deficiency 9.8 TMEM114 CRYAA
9 early-onset posterior polar cataract 9.8 CRYBA1 CHMP4B
10 nance-horan syndrome 9.7 CRYBA1 CRYAA
11 aniridia 1 9.7 CRYBA1 CRYAA
12 lens disease 9.5 CRYBA1 CRYAA
13 posterior polar cataract 9.4 CRYBA1 CRYAA CHMP4B
14 disuse amblyopia 9.2 CRYAA CHMP4B CHMP4A
15 cataract 31, multiple types 8.9 CRYBA1 CRYAA CHMP4B CHMP4A
16 cataract 16, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
17 cataract 11, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
18 cataract 6, multiple types 8.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A

Graphical network of the top 20 diseases related to Cataract 32, Multiple Types:



Diseases related to Cataract 32, Multiple Types

Symptoms & Phenotypes for Cataract 32, Multiple Types

Human phenotypes related to Cataract 32, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 anterior polar cataract 31 HP:0001134

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye

Publications for Cataract 32, Multiple Types

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. 56
17047090 2006
2
Arrhythmogenic right ventricular dysplasia and anterior polar cataract. 56
9409860 1997
3
Chromosome 14-terminal deletion and cataracts. 56
1497515 1992
4
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. 56
6694185 1984
5
Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea. 61
7088001 1982

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

Pathways related to Cataract 32, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 CHMP4B CHMP4A
2
Show member pathways
11.13 CHMP4B CHMP4A
3
Show member pathways
10.5 CHMP4B CHMP4A

GO Terms for Cataract 32, Multiple Types

Cellular components related to Cataract 32, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 midbody GO:0030496 9.32 CHMP4B CHMP4A
2 late endosome membrane GO:0031902 9.26 CHMP4B CHMP4A
3 cytoplasmic side of plasma membrane GO:0009898 9.16 CHMP4B CHMP4A
4 membrane coat GO:0030117 8.96 CHMP4B CHMP4A
5 ESCRT III complex GO:0000815 8.62 CHMP4B CHMP4A

Biological processes related to Cataract 32, Multiple Types according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.52 CHMP4B CHMP4A
2 endosomal transport GO:0016197 9.51 CHMP4B CHMP4A
3 protein homooligomerization GO:0051260 9.5 CRYAA CHMP4B CHMP4A
4 negative regulation of neuron death GO:1901215 9.49 CHMP4B CHMP4A
5 mitotic metaphase plate congression GO:0007080 9.48 CHMP4B CHMP4A
6 multivesicular body assembly GO:0036258 9.46 CHMP4B CHMP4A
7 viral life cycle GO:0019058 9.43 CHMP4B CHMP4A
8 nucleus organization GO:0006997 9.4 CHMP4B CHMP4A
9 viral budding via host ESCRT complex GO:0039702 9.37 CHMP4B CHMP4A
10 midbody abscission GO:0061952 9.26 CHMP4B CHMP4A
11 vacuolar transport GO:0007034 9.16 CHMP4B CHMP4A
12 negative regulation of autophagosome assembly GO:1902902 8.96 CHMP4B CHMP4A
13 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 8.62 CHMP4B CHMP4A

Molecular functions related to Cataract 32, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.62 CRYBA1 CRYAA

Sources for Cataract 32, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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