MCID: CTR096
MIFTS: 20

Cataract 6, Multiple Types malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Cataract 6, Multiple Types

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Cataract 6, Multiple Types, Aliases & Descriptions:

Name: Cataract 6, Multiple Types 45 10
Cataract, Posterior Polar, 1 41 60
Cataract, Age-Related Cortical, 2 20
Posterior Polar Cataract, 1 41
 
Ctpp1 41
Ctpa 41
Ctpp 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


External Ids:

OMIM45 116600

Summaries for Cataract 6, Multiple Types

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OMIM:45 Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior... (116600) more...

MalaCards based summary: Cataract 6, Multiple Types, also known as cataract, posterior polar, 1, is related to severe combined immunodeficiency and posterior polar cataract, and has symptoms including posterior polar cataract, autosomal dominant inheritance and congenital cataract. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH receptor A2).

Related Diseases for Cataract 6, Multiple Types

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



Diseases related to cataract 6, multiple types

Symptoms for Cataract 6, Multiple Types

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Symptoms by clinical synopsis from OMIM:

116600

Clinical features from OMIM:

116600

HPO human phenotypes related to Cataract 6, Multiple Types:

(show all 6)
id Description Frequency HPO Source Accession
1 posterior polar cataract 12% HP:0001115
2 autosomal dominant inheritance HP:0000006
3 congenital cataract HP:0000519
4 myopia HP:0000545
5 choroideremia HP:0001139
6 total cataract HP:0010700

Drugs & Therapeutics for Cataract 6, Multiple Types

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Drug clinical trials:

Search ClinicalTrials for Cataract 6, Multiple Types

Search NIH Clinical Center for Cataract 6, Multiple Types

Genetic Tests for Cataract 6, Multiple Types

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Genetic tests related to Cataract 6, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Age-Related Cortical, 220 EPHA2

Anatomical Context for Cataract 6, Multiple Types

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Animal Models for Cataract 6, Multiple Types or affiliated genes

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Publications for Cataract 6, Multiple Types

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Variations for Cataract 6, Multiple Types

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

62
id Symbol AA change Variation ID SNP ID
1EPHA2p.Thr940IleVAR_058907
2EPHA2p.Gly948TrpVAR_058908
3EPHA2p.Arg721GlnVAR_062532rs116506614

Clinvar genetic disease variations for Cataract 6, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1EPHA2NM_004431.3(EPHA2): c.2842G> T (p.Gly948Trp)single nucleotide variantPathogenicrs137853199GRCh37Chr 1, 16451799: 16451799
2EPHA2NM_004431.3(EPHA2): c.2819C> T (p.Thr940Ile)single nucleotide variantPathogenicrs137853200GRCh37Chr 1, 16455935: 16455935
3EPHA2EPHA2, 2-BP DEL, 2915TGdeletionPathogenic
4EPHA2EPHA2, IVS16, G-A, -9single nucleotide variantPathogenic

Expression for genes affiliated with Cataract 6, Multiple Types

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

Pathways for genes affiliated with Cataract 6, Multiple Types

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Compounds for genes affiliated with Cataract 6, Multiple Types

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GO Terms for genes affiliated with Cataract 6, Multiple Types

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Products for genes affiliated with Cataract 6, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract 6, Multiple Types

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet