MCID: JVN012
MIFTS: 24

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section


Fully expand this MalaCard
MalaCards based summary: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome is related to hereditary hemorrhagic telangiectasia and acute lymphoblastic leukemia, and has symptoms including 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:46 175050

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section

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

Name: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 20 22 46 62


Classifications:

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


Related Diseases for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

Publications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section

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

About this section

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:

6
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
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

Sources for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet