CCA1
MCID: CTR125
MIFTS: 33

Cataract 7 (CCA1)

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

Aliases & Classifications for Cataract 7

MalaCards integrated aliases for Cataract 7:

Name: Cataract 7 57 12 13 15
Ctrct7 57 12
Cca1 57 12
Cataract, Congenital, Cerulean Type, 1; Cca1 57
Cataract, Congenital, Cerulean Type, 1 57
Congenital Cerulean Type Cataract 1 12
Cataract 7, Cerulean Type 57
Cerulean Type Cataract 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cataract 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115660
Disease Ontology 12 DOID:0110260
ICD10 33 Q12.0
MedGen 42 C0344523

Summaries for Cataract 7

OMIM : 57 Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.' (115660)

MalaCards based summary : Cataract 7, also known as ctrct7, is related to cerulean cataract and cataract. An important gene associated with Cataract 7 is CCA1 (Cataract, Congenital, Cerulean Type, 1), and among its related pathways/superpathways are Olfactory transduction and GPCRs, Other. Affiliated tissues include cortex and eye, and related phenotypes are visual loss and congenital cataract

Disease Ontology : 12 A cataract that has material basis in variation in the region 17q24.

Related Diseases for Cataract 7

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

# Related Disease Score Top Affiliating Genes
1 cerulean cataract 11.3
2 cataract 11.3
3 perrault syndrome 1 11.1
4 leri-weill dyschondrosteosis 10.1
5 tropical calcific pancreatitis 10.1
6 cataract 3, multiple types 9.7 OR5AC2 OR4Q3 GAS1
7 cataract 4, multiple types 9.7 OR5AC2 OR4Q3 GAS1
8 cataract 37 9.5 OR6C3 OR5AC2 OR4Q3 OR1J2
9 cataract 21, multiple types 9.5 OR6C3 OR5AC2 OR4Q3 OR1J2

Graphical network of the top 20 diseases related to Cataract 7:



Diseases related to Cataract 7

Symptoms & Phenotypes for Cataract 7

Symptoms via clinical synopsis from OMIM:

57
Eyes:
peripheral bluish and white concentric layered opacities with occasional central lesions arranged radially
mild visual loss


Clinical features from OMIM:

115660

Human phenotypes related to Cataract 7:

32
# Description HPO Frequency HPO Source Accession
1 visual loss 32 HP:0000572
2 congenital cataract 32 HP:0000519

Drugs & Therapeutics for Cataract 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710

Search NIH Clinical Center for Cataract 7

Genetic Tests for Cataract 7

Anatomical Context for Cataract 7

MalaCards organs/tissues related to Cataract 7:

41
Cortex, Eye

Publications for Cataract 7

Variations for Cataract 7

Expression for Cataract 7

Search GEO for disease gene expression data for Cataract 7.

Pathways for Cataract 7

Pathways related to Cataract 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 OR1J2 OR4Q3 OR5AC2 OR6C3
2 10.96 OR5AC2 OR6C3

GO Terms for Cataract 7

Biological processes related to Cataract 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.67 OR1J2 OR4Q3 OR5AC2 OR6C3
2 signal transduction GO:0007165 9.65 CLOCK OR1J2 OR4Q3 OR5AC2 OR6C3
3 response to stimulus GO:0050896 9.46 OR1J2 OR4Q3 OR5AC2 OR6C3
4 tRNA processing GO:0008033 9.32 TRMT1 TRNT1
5 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.26 OR1J2 OR4Q3 OR5AC2 OR6C3
6 sensory perception of smell GO:0007608 8.92 OR1J2 OR4Q3 OR5AC2 OR6C3

Molecular functions related to Cataract 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.26 OR1J2 OR4Q3 OR5AC2 OR6C3
2 tRNA binding GO:0000049 9.16 TRMT1 TRNT1
3 olfactory receptor activity GO:0004984 8.92 OR1J2 OR4Q3 OR5AC2 OR6C3

Sources for Cataract 7

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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