CCA1
MCID: CTR125
MIFTS: 31

Cataract 7 (CCA1)

Categories: Eye diseases, Rare diseases, Genetic diseases, Fetal diseases, Oral diseases, Neuronal diseases, Nephrological diseases, Metabolic 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 is GPCRs, Other. Affiliated tissues include cortex and eye, and related phenotypes are congenital cataract and visual loss

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

Related Diseases for Cataract 7

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 congenital cataract 32 HP:0000519
2 visual loss 32 HP:0000572

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 10.63 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 sensory perception of smell GO:0007608 9.33 OR4Q3 OR5AC2 OR6C3
2 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.13 OR4Q3 OR5AC2 OR6C3
3 tRNA processing GO:0008033 8.62 TRMT1 TRNT1

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

# Name GO ID Score Top Affiliating Genes
1 olfactory receptor activity GO:0004984 9.33 OR4Q3 OR5AC2 OR6C3
2 nucleotide binding GO:0000166 9.13 MAP3K9 PIF1 TRNT1
3 tRNA binding GO:0000049 8.62 TRMT1 TRNT1

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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