MCID: JVN012
MIFTS: 24

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome, Aliases & Descriptions:

Name: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 45 10 20 22 60


Classifications:

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


External Ids:

OMIM45 175050

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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OMIM:45 The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary... (175050) more...

MalaCards based summary: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is related to hereditary hemorrhagic telangiectasia and leukemia, and has symptoms including juvenile gastrointestinal polyposis, pulmonary arteriovenous malformation and clubbing. An important gene associated with Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is SMAD4 (SMAD family member 4). Affiliated tissues include brain, liver and lung.

Related Diseases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia10.6
2leukemia10.5
3lymphoblastic leukemia10.5

Symptoms for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Symptoms by clinical synopsis from OMIM:

175050

Clinical features from OMIM:

175050

HPO human phenotypes related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

(show all 16)
id Description Frequency HPO Source Accession
1 juvenile gastrointestinal polyposis obligate (100%) HP:0004784
2 pulmonary arteriovenous malformation 18% HP:0006548
3 clubbing 17% HP:0001217
4 telangiectasia 14% HP:0001009
5 epistaxis 10% HP:0000421
6 hepatic arteriovenous malformation 6% HP:0006574
7 mitral valve prolapse rare (5%) HP:0001634
8 mitral regurgitation rare (5%) HP:0001653
9 aortic dilatation rare (5%) HP:0001724
10 gastrointestinal carcinoma rare (5%) HP:0002672
11 stroke 3% HP:0001297
12 cerebral arteriovenous malformation 3% HP:0002408
13 autosomal dominant inheritance HP:0000006
14 anemia HP:0001903
15 hematochezia HP:0002573
16 hamartomatous polyps HP:0004390

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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

31
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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Articles related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome:

idTitleAuthorsYear
1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. (25081192)
2014
2
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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UniProtKB/Swiss-Prot 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

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

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet