MCID: JVN012
MIFTS: 25

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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

Name: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 49 11 22 67 24 65
Jp/hht Syndrome 22
 
Jp/hht 67
Jpht 22

Characteristics:

HPO:

61
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 175050
MedGen34 C1832942
UMLS65 C1832942

Summaries for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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UniProtKB/Swiss-Prot:67 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown.

MalaCards based summary: Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome, also known as jp/hht 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 liver, lung and brain.

OMIM:49 The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS; 174900) and hereditary... (175050) more...

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 telangiectasia10.3
2leukemia10.2
3lymphoblastic leukemia10.2
4intellectual disability10.2

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 15)
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 gastrointestinal carcinoma rare (5%) HP:0002672
8 aortic dilatation rare (5%) HP:0001724
9 mitral regurgitation rare (5%) HP:0001653
10 mitral valve prolapse rare (5%) HP:0001634
11 cerebral arteriovenous malformation 3% HP:0002408
12 stroke 3% HP:0001297
13 hamartomatous polyposis HP:0004390
14 hematochezia HP:0002573
15 anemia HP:0001903

Drugs & Therapeutics for Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 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:

33
Liver, Lung, Brain, Skin, Pituitary

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:

67
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:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593494: 48593497
2SMAD4NM_005359.5(SMAD4): c.302G> A (p.Trp101Ter)single nucleotide variantPathogenicrs377767323GRCh37Chr 18, 48575108: 48575108
3SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584519
4SMAD4NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)single nucleotide variantPathogenicrs121912581GRCh37Chr 18, 48591891: 48591891
5SMAD4NM_005359.5(SMAD4): c.1055G> A (p.Gly352Glu)single nucleotide variantPathogenicrs377767345GRCh37Chr 18, 48591892: 48591892
6SMAD4NM_005359.5(SMAD4): c.1082G> T (p.Arg361Leu)single nucleotide variantPathogenicrs377767347GRCh37Chr 18, 48591919: 48591919
7SMAD4NM_005359.5(SMAD4): c.1088_1090delGTT (p.Cys363del)deletionPathogenicrs377767349GRCh37Chr 18, 48591925: 48591927
8SMAD4NM_005359.5(SMAD4): c.1102_1103delTC (p.Ser368Glnfs)deletionPathogenicrs377767351GRCh37Chr 18, 48591939: 48591940
9SMAD4NM_005359.5(SMAD4): c.1148T> A (p.Ile383Lys)single nucleotide variantPathogenicrs377767355GRCh37Chr 18, 48593397: 48593397
10SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
11SMAD4NM_005359.5(SMAD4): c.1586_1587dupTA (p.His530Tyrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604764: 48604765
12SMAD4NM_005359.5(SMAD4): c.1594delG (p.Ala532Profs)deletionPathogenicrs377767378GRCh37Chr 18, 48604772: 48604772
13SMAD4NM_005359.5(SMAD4): c.1596_1597delCCinsT (p.Leu533Serfs)indelPathogenicrs377767379GRCh37Chr 18, 48604774: 48604775
14SMAD4NM_005359.5(SMAD4): c.1596delC (p.Leu533Serfs)deletionPathogenicrs377767380GRCh37Chr 18, 48604774: 48604774
15SMAD4NM_005359.5(SMAD4): c.1598T> G (p.Leu533Arg)single nucleotide variantPathogenicrs377767382GRCh37Chr 18, 48604776: 48604776
16SMAD4NM_005359.5(SMAD4): c.1600C> T (p.Gln534Ter)single nucleotide variantPathogenicrs377767383GRCh37Chr 18, 48604778: 48604778
17SMAD4NM_005359.5(SMAD4): c.1598T> C (p.Leu533Pro)single nucleotide variantPathogenicrs377767382GRCh37Chr 18, 48604776: 48604776
18SMAD4NM_005359.5(SMAD4): c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs)deletionPathogenicrs377767385GRCh37Chr 18, 48604790: 48604803
19SMAD4NM_005359.5: c.1228-1229delCAdeletionPathogenicGRCh37Chr 18, 48592248: 48592248
20SMAD4NM_005359.5(SMAD4): c.1447+1G> Asingle nucleotide variantPathogenicrs377767387GRCh37Chr 18, 48603147: 48603147
21SMAD4SMAD4, 1-BP INSinsertionPathogenic
22SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
23SMAD4NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)single nucleotide variantPathogenicrs121912580GRCh37Chr 18, 48593406: 48593406
24SMAD4SMAD4, 14-BP DEL, NT1612deletionPathogenic
25SMAD4SMAD4, 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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet