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CTRCT7
MCID: CTR125
MIFTS: 26

Cataract 7 (CTRCT7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Cataract 7

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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 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
cataract 7:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110260
OMIM® 57 115660
OMIM Phenotypic Series 57 PS116200
ICD10 32 Q12.0
MedGen 41 C0344523
Sources

Summaries for Cataract 7

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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) (Updated 05-Mar-2021)

MalaCards based summary : Cataract 7, also known as ctrct7, is related to cataract and cerulean cataract. An important gene associated with Cataract 7 is CCA1 (Cataract, Congenital, Cerulean Type, 1). Affiliated tissues include eye and cortex, and related phenotypes are visual loss and developmental cataract

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

Sources

Related Diseases for Cataract 7

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

# Related Disease Score Top Affiliating Genes
1 cataract 31.0 EPHA2 CCA1
2 cerulean cataract 11.4
3 helix syndrome 9.9
4 dwarfism 9.9

Sources

Symptoms & Phenotypes for Cataract 7

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Human phenotypes related to Cataract 7:

31
# Description HPO Frequency HPO Source Accession
1 visual loss 31 HP:0000572
2 developmental cataract 31 HP:0000519
3 mildly reduced visual acuity 31 HP:0032037

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Eyes:
peripheral bluish and white concentric layered opacities with occasional central lesions arranged radially
mild visual loss

Clinical features from OMIM®:

115660 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Cataract 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.7 CHKB
2 Decreased viability GR00221-A-2 9.7 CHKB EPHA2
3 Decreased viability GR00221-A-3 9.7 CHKB EPHA2
4 Decreased viability GR00221-A-4 9.7 CHKB EPHA2
5 Decreased viability GR00301-A 9.7 CHKB
6 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.96 CHKB EPHA2
Sources

Drugs & Therapeutics for Cataract 7

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Search Clinical Trials , NIH Clinical Center for Cataract 7

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Genetic Tests for Cataract 7

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Anatomical Context for Cataract 7

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MalaCards organs/tissues related to Cataract 7:

40
Eye, Cortex
Sources

Publications for Cataract 7

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Articles related to Cataract 7:

(show all 14)
# Title Authors PMID Year
1
The genetics of cataract: our vision becomes clearer. 57
9497271 1998
2
A progressive early onset cataract gene maps to human chromosome 17q24. 57
7704021 1995
3
Association between Systemic Antioxidant Capacity and Retinal Vessel Diameters in Patients with Primary-Open Angle Glaucoma. 61
33419272 2020
4
VISUAL AND ANATOMIC OUTCOMES OF PEDIATRIC ENDOSCOPIC VITRECTOMY IN 326 CASES. 61
32091489 2020
5
A Pilot Study to Improve Access to Eye Care Services for Patients in Rural India by Implementing Community Ophthalmology through Innovative Telehealth Technology. 61
26210431 2015
6
Preventable visual impairment in children 
with nonprofound intellectual disability. 61
23640505 2013
7
Surgical management challenges and clinical results of bimanual micro-incision phacoemulsification cataract surgery in children with congenital cataract. 61
21505539 2011
8
[Retrospective evaluation of ocular axial length after unilateral cataract surgery with intraocular lens implantation in children and adolescents]. 61
18488387 2007
9
Outcome of macular hole surgery. 61
14588170 2003
10
Bilateral cataract after phakic posterior chamber top hat-style silicone intraocular lens. 61
9268941 1997
11
Childhood blindness in the West Bank and Gaza Strip: prevalence, aetiology and hereditary factors. 61
8253243 1993
12
[The practical aspects of the monocular wearing of a contact lens]. 61
1520684 1992
13
Vitrectomy for nondiabetic vitreous hemorrhage. Not associated with vascular disease. 61
3420316 1988
14
Ocular Lesions in Psoriatics. 61
28145297 1987
Sources

Variations for Cataract 7

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Sources

Expression for Cataract 7

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Search GEO for disease gene expression data for Cataract 7.
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Pathways for Cataract 7

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GO Terms for Cataract 7

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 8.62 EPHA2 CHKB

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 8.62 EPHA2 CHKB
Sources

Sources for Cataract 7

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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