CTRCT6
MCID: CTR096
MIFTS: 33

Cataract 6, Multiple Types (CTRCT6) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Cataract 6, Multiple Types

Aliases & Descriptions for Cataract 6, Multiple Types:

Name: Cataract 6, Multiple Types 54 66 13
Cataract 6 Multiple Types 12 29 14
Arcc2 12 24 66
Ctpp1 12 50 66
Cataract, Age-Related Cortical, 2 24 69
Cataract, Posterior Polar, 1 50 69
Ctrct6 12 66
Ctpa 50 66
Ctpp 50 66
Age Related Cortical Cataract 2 12
Age-Related Cortical Cataract 2 66
Posterior Polar Cataract, 1 50
Posterior Polar Cataract 1 12
Cataract Posterior Polar 1 66

Characteristics:

HPO:

32
cataract 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 116600
Disease Ontology 12 DOID:0110229
ICD10 33 Q12.0
MedGen 40 C1861825
MeSH 42 D002386

Summaries for Cataract 6, Multiple Types

UniProtKB/Swiss-Prot : 66 Cataract 6, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.

MalaCards based summary : Cataract 6, Multiple Types, also known as cataract 6 multiple types, is related to severe combined immunodeficiency and tricuspid atresia, and has symptoms including myopia, choroideremia and congenital cataract. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH Receptor A2). The drugs Nitric Oxide and Isosorbide Dinitrate have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotype is neoplasm.

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the EPHA2 gene on chromosome 1p36.

OMIM : 54 Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior... (116600) more...

Related Diseases for Cataract 6, Multiple Types

Graphical network of the top 20 diseases related to Cataract 6, Multiple Types:



Diseases related to Cataract 6, Multiple Types

Symptoms & Phenotypes for Cataract 6, Multiple Types

Symptoms by clinical synopsis from OMIM:

116600

Clinical features from OMIM:

116600

Human phenotypes related to Cataract 6, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 choroideremia 32 HP:0001139
3 congenital cataract 32 HP:0000519
4 posterior polar cataract 32 HP:0001115
5 total cataract 32 HP:0010700

MGI Mouse Phenotypes related to Cataract 6, Multiple Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 EPHA2 LDHA

Drugs & Therapeutics for Cataract 6, Multiple Types

Drugs for Cataract 6, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
Isosorbide Dinitrate Approved Phase 4 87-33-2 6883
3 isosorbide-5-mononitrate Phase 4
4 diuretics Phase 4
5 Natriuretic Agents Phase 4
6 Nitric Oxide Donors Phase 4
7 Vasodilator Agents Phase 4
8 Isosorbide Phase 4
9
Fenofibrate Approved Phase 3 49562-28-9 3339
10
Simvastatin Approved Phase 3 79902-63-9 54454
11
Melphalan Approved Phase 3 148-82-3 4053 460612
12 Clofibric Acid Phase 3 882-09-7
13 insulin Phase 3
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
15 Hypoglycemic Agents Phase 3
16 Hypolipidemic Agents Phase 3
17 Anticholesteremic Agents Phase 3
18 Insulin, Globin Zinc Phase 3
19 Lipid Regulating Agents Phase 3
20 Antimetabolites Phase 3
21
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
22
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
23 Tetrahydrozoline
24 Dermatologic Agents
25 Ophthalmic Solutions
26 Pharmaceutical Solutions
27 Anti-Infective Agents
28 Immunosuppressive Agents
29 Antifungal Agents
30 Antirheumatic Agents
31 Calcineurin Inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase
1 Influence of Nitrates on Bone Remodeling and Endothelial Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02011620 Phase 4
2 A Study of Palifermin for the Reduction of Oral Mucositis in Subjects With Multiple Myeloma Completed NCT00434161 Phase 3
3 Evaluating How the Treatments in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) Study Affect Diabetic Retinopathy (The ACCORD Eye Study) Completed NCT00542178 Phase 3
4 Long-term Topical Cyclosporine for Atopic Keratoconjunctivitis Completed NCT00987467
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 6, Multiple Types

Genetic Tests for Cataract 6, Multiple Types

Genetic tests related to Cataract 6, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract 6, Multiple Types 29
2 Cataract, Age-Related Cortical, 2 24 EPHA2

Anatomical Context for Cataract 6, Multiple Types

MalaCards organs/tissues related to Cataract 6, Multiple Types:

39
Eye, Cortex

Publications for Cataract 6, Multiple Types

Variations for Cataract 6, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 6, Multiple Types:

66
id Symbol AA change Variation ID SNP ID
1 EPHA2 p.Thr940Ile VAR_058907 rs137853200
2 EPHA2 p.Gly948Trp VAR_058908 rs137853199
3 EPHA2 p.Arg721Gln VAR_062532 rs116506614

ClinVar genetic disease variations for Cataract 6, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EPHA2 NM_004431.4(EPHA2): c.2842G> T (p.Gly948Trp) single nucleotide variant Pathogenic rs137853199 GRCh37 Chromosome 1, 16451799: 16451799
2 EPHA2 NM_004431.4(EPHA2): c.2819C> T (p.Thr940Ile) single nucleotide variant Pathogenic rs137853200 GRCh37 Chromosome 1, 16455935: 16455935
3 EPHA2 EPHA2, 2-BP DEL, 2915TG deletion Pathogenic
4 EPHA2 EPHA2, IVS16, G-A, -9 single nucleotide variant Pathogenic

Expression for Cataract 6, Multiple Types

Search GEO for disease gene expression data for Cataract 6, Multiple Types.

Pathways for Cataract 6, Multiple Types

GO Terms for Cataract 6, Multiple Types

Molecular functions related to Cataract 6, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 EPHA2 LDHA

Sources for Cataract 6, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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