MCID: JVN012
MIFTS: 21

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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46OMIM, 32MalaCards
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MalaCards: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is related to hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD family member 4). Affiliated tissues include brain, liver and lung.

Description from OMIM:46 175050

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 20 22 46 60


Related Diseases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia10.4
2juvenile polyposis syndrome10.4
3acute leukemia10.4
4leukemia10.4
5lymphoblastic leukemia10.4

Graphical network of diseases related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:



Diseases related to juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Clinical Features for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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46OMIM
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Clinical features from OMIM:

175050

Clinical synopsis from OMIM:

175050

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Drug clinical trials:

Search ClinicalTrials for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Search NIH Clinical Center for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Search CenterWatch for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Genetic Tests for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

id Genetic test Affiliating Genes
1 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome20 22 SMAD4

Anatomical Context for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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32MalaCards
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MalaCards organs/tissues related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

32
Brain, Liver, Lung, Skin

Animal Models for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome or affiliated genes

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Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Genetic Variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SMAD4p.Gly352ArgVAR_019571rs121912581
2SMAD4p.Gly386AspVAR_019573rs28936393

Expression for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Search GEO for disease gene expression data for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome.

Pathways for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Compounds for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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GO Terms for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Products for genes affiliated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet