CTRCT37
MCID: CTR158
MIFTS: 27

Cataract 37 (CTRCT37)

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

Aliases & Classifications for Cataract 37

MalaCards integrated aliases for Cataract 37:

Name: Cataract 37 56 12 15 71
Ctrct37 56 12
Cca5 56 12
Cataract, Congenital, Cerulean Type, 5; Cca5 56
Cataract, Congenital, Cerulean Type, 5 56
Cataract, Congenital Cerulean Type, 5 13
Congenital Cataract Cerulean Type 5 12
Cataract 37, Autosomal Dominant 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 37:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110252
OMIM 56 614422
OMIM Phenotypic Series 56 PS116200
ICD10 32 Q12.0
MedGen 41 C3280758
SNOMED-CT via HPO 68 263681008 609587005 79410001
UMLS 71 C3280758

Summaries for Cataract 37

Disease Ontology : 12 A cataract that has material basis in variation in the region 12q24.2-q24.3.

MalaCards based summary : Cataract 37, also known as ctrct37, is related to cataract and cerulean cataract. An important gene associated with Cataract 37 is CTRCT37 (Cataract, Congenital Cerulean Type, 5), and among its related pathways/superpathways are Olfactory transduction and GPCRs, Other. Affiliated tissues include eye and cortex, and related phenotype is developmental cataract.

More information from OMIM: 614422 PS116200

Related Diseases for Cataract 37

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 37 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 11.5
2 cerulean cataract 11.2
3 survival motor neuron spinal muscular atrophy 9.7 OR6C3 OR6C2
4 spinal muscular atrophy, type iii 8.9 OR6C3 OR6C2 OR4Q3 OR1J2
5 cataract 3, multiple types 8.3 TRNT1 OR6C3 OR6C2 OR5AC2 OR4Q3 FBN2
6 cataract 21, multiple types 7.9 TRNT1 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2

Graphical network of the top 20 diseases related to Cataract 37:



Diseases related to Cataract 37

Symptoms & Phenotypes for Cataract 37

Human phenotypes related to Cataract 37:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract, congenital cerulean
blue-white dots throughout lens, more numerous in cortex
cuneiform opacities in lens periphery

Clinical features from OMIM:

614422

Drugs & Therapeutics for Cataract 37

Search Clinical Trials , NIH Clinical Center for Cataract 37

Genetic Tests for Cataract 37

Anatomical Context for Cataract 37

MalaCards organs/tissues related to Cataract 37:

40
Eye, Cortex

Publications for Cataract 37

Articles related to Cataract 37:

# Title Authors PMID Year
1
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. 56
21731060 2011
2
Prevalence and causes of visual impairment amongst older adults in a rural area of North India: a cross-sectional study. 61
29550774 2018
3
New software for lens retro-illumination digital image analysis. 61
10484182 1999

Variations for Cataract 37

Expression for Cataract 37

Search GEO for disease gene expression data for Cataract 37.

Pathways for Cataract 37

Pathways related to Cataract 37 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
2 10.81 OR6C3 OR6C2 OR5AC2

GO Terms for Cataract 37

Biological processes related to Cataract 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.72 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
2 G protein-coupled receptor signaling pathway GO:0007186 9.65 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
3 response to stimulus GO:0050896 9.55 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
4 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.35 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
5 sensory perception of smell GO:0007608 9.02 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2

Molecular functions related to Cataract 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.35 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2
2 olfactory receptor activity GO:0004984 9.02 OR6C3 OR6C2 OR5AC2 OR4Q3 OR1J2

Sources for Cataract 37

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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