CCA1
MCID: CTR125
MIFTS: 30

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 58 12 13 15
Ctrct7 58 12
Cca1 58 12
Cataract, Congenital, Cerulean Type, 1; Cca1 58
Cataract, Congenital, Cerulean Type, 1 58
Congenital Cerulean Type Cataract 1 12
Cataract 7, Cerulean Type 58
Cerulean Type Cataract 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cataract 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110260
OMIM 58 115660
ICD10 34 Q12.0
MedGen 43 C0344523

Summaries for Cataract 7

OMIM : 58 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). Affiliated tissues include cortex and eye, and related phenotypes are visual loss and developmental 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 11.4
2 cataract 11.3
3 perrault syndrome 1 11.1
4 tropical calcific pancreatitis 10.2
5 cataract 37 10.0 OR5AC2 OR4Q3
6 cataract 21, multiple types 9.9 OR5AC2 OR4Q3
7 cataract 3, multiple types 9.8 OR5AC2 OR4Q3 GAS1
8 cataract 4, multiple types 9.7 OR5AC2 OR4Q3 GAS1

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



Diseases related to Cataract 7

Symptoms & Phenotypes for Cataract 7

Human phenotypes related to Cataract 7:

33
# Description HPO Frequency HPO Source Accession
1 visual loss 33 HP:0000572
2 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Eyes:
peripheral bluish and white concentric layered opacities with occasional central lesions arranged radially
mild visual loss

Clinical features from OMIM:

115660

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:

42
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

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 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 tRNA binding GO:0000049 8.62 TRMT1 TRNT1

Sources for Cataract 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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