MCID: CTR096
MIFTS: 29

Cataract 6, Multiple Types malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Cancer diseases, Oral diseases categories

Summaries for Cataract 6, Multiple Types

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48OMIM, 34MalaCards
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MalaCards: Cataract 6, Multiple Types, also known as posterior subcapsular cataract, is related to posterior polar cataract and cataract. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH receptor A2), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include eye, and related mouse phenotypes are skeleton and vision/eye.

Description from OMIM:48 116600, 605387, 610623, 601885, 612968 613763, 115650 more

Aliases & Classifications for Cataract 6, Multiple Types

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Sources:
50Orphanet, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
posterior subcapsular cataract:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

cataract 6, multiple types 48
posterior subcapsular cataract 50
posterior polar cataract 50


External Ids:

ICD10 via Orphanet27 Q12.0
SNOMED-CT via Orphanet60 315353005

Related Diseases for Cataract 6, Multiple Types

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Cataract 4, Multiple Types family:

Cataract Cataract, Total Congenital
Cataract 8, Multiple Types cataract 6, multiple types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 2, Multiple Types Cataract 12, Multiple Types
Cataract 20, Multiple Types Cataract 41
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract, Congenital
Cataract 25 Cataract 5, Multiple Types
Cataract 10, Multiple Types Cataract 7
Cataract 19 Cataract 33
Cataract 31, Multiple Types Cataract 9, Multiple Types
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 23

Diseases related to Cataract 6, Multiple Types via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1posterior polar cataract31.7PITX3
2cataract31.4GJA3, CRYAB, PITX3
3posterior polar cataract 210.4
4cataract, posterior polar, 410.3
5cystic fibrosis10.3
6monilethrix10.3
7allergic bronchopulmonary aspergillosis10.3
8aspergillosis10.3
9refractive error10.3
10senile cataract10.3
11bronchopulmonary dysplasia10.3
12degos disease10.3
13cataract 1, multiple types10.3
14cataract 12, multiple types10.3
15cataract 22, autosomal recessive10.3
16retinitis pigmentosa autosomal recessive10.3
17retinitis pigmentosa10.2
18choroideremia10.2
19myopia10.2
20retinitis10.2
21dwarfism10.2
22cataract, posterior polar, 110.2
23parkinson's disease10.0CRYAB, PITX3
24glioblastoma multiforme10.0CRYAB, EPHA2
25cataract, congenital9.9PITX3, CRYAB, GJA3

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



Diseases related to cataract 6, multiple types

Symptoms for Cataract 6, Multiple Types

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

116600

Clinical features from OMIM:

116600,605387,610623,601885,612968,613763,115650

Drugs & Therapeutics for Cataract 6, Multiple Types

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cataract 6, Multiple Types

Drug clinical trials:

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Search NIH Clinical Center for Cataract 6, Multiple Types

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Genetic Tests for Cataract 6, Multiple Types

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Anatomical Context for Cataract 6, Multiple Types

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Sources:
34MalaCards
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MalaCards organs/tissues related to Cataract 6, Multiple Types:

34
Eye

Animal Models for Cataract 6, Multiple Types or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Cataract 6, Multiple Types:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9CRYAB, EPHA2, PITX3
2MP:00053918.1GJA3, CRYAB, EPHA2, PITX3

Publications for Cataract 6, Multiple Types

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Variations for Cataract 6, Multiple Types

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cataract 6, Multiple Types:

65
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:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cataract 6, Multiple Types

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Pathways for genes affiliated with Cataract 6, Multiple Types

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Sources:
51PathCards, 56Reactome
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Pathways related to Cataract 6, Multiple Types according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GJA3, CHMP4B

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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Sources:
17Gene Ontology
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Biological processes related to Cataract 6, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lens development in camera-type eyeGO:0020889.3CRYAB, PITX3

Products for genes affiliated with Cataract 6, Multiple Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cataract 6, Multiple Types

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet