MCID: JVN012
MIFTS: 20

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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47OMIM, 33MalaCards
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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:47 175050

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 20 22 47 61


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

Clinical Features for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

175050

Clinical synopsis from OMIM:

175050

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Sources:
5CenterWatch, 42NIH 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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33MalaCards
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MalaCards organs/tissues related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

33
Brain, Liver, Lung, Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Sources:
51PubMed
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Articles related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

idTitleAuthorsYear
1
Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome. (23888243)
2013
2
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
3
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. (21572342)
2012
4
Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes. (20012952)
2010

Genetic Variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

63
id Symbol AA change Variation SNP ID
1SMAD4p.Gly352ArgVAR_019571rs121912581
2SMAD4p.Gly386AspVAR_019573rs28936393

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

Sources:
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet