MCID: JVN012
MIFTS: 22

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Genetic diseases (common) category

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 175050

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 21 23 48 63


Related Diseases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

175050

Clinical features from OMIM:

175050

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

id Genetic test Affiliating Genes
1 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome21 23 SMAD4

Anatomical Context for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
34MalaCards
See all sources

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

34
Brain, Liver, Lung, Skin

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

About this section

Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
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