MCID: JVN012
MIFTS: 26

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Genetic diseases (common) category

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Looking for an antibody for researching juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome?

SMAD4 antibody
OMIM:46 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 acute lymphoblastic 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.

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 21 23 46 61


Classifications:

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


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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia10.6
2acute lymphoblastic leukemia10.5
3leukemia10.5
4lymphoblastic 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 Syndrome21 23 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:

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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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:

63
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:

7
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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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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Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet