MCID: JVN012
MIFTS: 22

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Genetic diseases (common) category
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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 leukemia. 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

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20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 20 22 47 62


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
2leukemia10.4
3lymphoblastic leukemia10.4

Symptoms for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

175050

Clinical features from OMIM:

175050

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

Search NIH Clinical Center 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

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Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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52PubMed
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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

Variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SMAD4p.Gly352ArgVAR_019571rs121912581
2SMAD4p.Gly386AspVAR_019573rs28936393

Clinvar genetic disease variations for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)single nucleotide variantPathogenicrs121912581GRCh37Chr 18, 48591891: 48591891
2SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
3SMAD4SMAD4, 1-BP INSinsertionPathogenic
4SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
5SMAD4NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)single nucleotide variantPathogenicrs121912580GRCh37Chr 18, 48593406: 48593406
6SMAD4SMAD4, 14-BP DEL, NT1612deletionPathogenic
7SMAD4SMAD4, 2-BP DEL/1-BP INS, 1596CC/TindelPathogenic

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

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2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet