CCA5
MCID: CTR158
MIFTS: 31

Cataract 37 (CCA5)

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 57 12 15 73
Ctrct37 57 12
Cca5 57 12
Cataract, Congenital, Cerulean Type, 5; Cca5 57
Cataract, Congenital, Cerulean Type, 5 57
Cataract, Congenital Cerulean Type, 5 13
Congenital Cataract Cerulean Type 5 12
Cataract 37, Autosomal Dominant 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 37:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614422
Disease Ontology 12 DOID:0110252
ICD10 33 Q12.0
MedGen 42 C3280758
SNOMED-CT via HPO 69 263681008 609587005 79410001
UMLS 73 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 cerulean cataract and 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 congenital cataract.

Description from OMIM: 614422

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 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 cerulean cataract 31.4 CTRCT37 MAF
2 cataract 11.3
3 cataract 4, multiple types 10.0 OR4Q3 OR5AC2
4 cataract 3, multiple types 9.9 OR4Q3 OR5AC2
5 cataract 7 9.5 OR1J2 OR4Q3 OR5AC2 OR6C3
6 cataract 21, multiple types 9.1 MAF OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

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



Diseases related to Cataract 37

Symptoms & Phenotypes for Cataract 37

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cataract 37:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

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:

41
Eye, Cortex

Publications for Cataract 37

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
11.97 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 11.14 OR5AC2 OR6C2 OR6C3

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 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 G protein-coupled receptor signaling pathway GO:0007186 9.65 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
3 response to stimulus GO:0050896 9.55 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
4 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.35 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
5 sensory perception of smell GO:0007608 9.02 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

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 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3
2 olfactory receptor activity GO:0004984 9.02 OR1J2 OR4Q3 OR5AC2 OR6C2 OR6C3

Sources for Cataract 37

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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