Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome; Jpht

Description

The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome; Jpht

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss
  • Arrhythmia
  • Arthritis
  • Stroke
  • Joint hypermobility
  • Gastrointestinal hemorrhage

And another 23 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome; Jpht Is also known as jps/hht, polyposis, generalized juvenile, with pulmonary arteriovenous malformation, telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli, juvenile polyposis with hereditary hemorrhagic telangiectasia, jp/hht syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome; Jpht Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDK4, CDKN2A, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, ATM, PMS2, RAD50
Specificity
6 %
Genes
100 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, STK11, EPCAM, TP53, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS1, PMS2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
SMAD4 Gene Characterization.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

SMAD4
Specificity
100 %
Genes
100 %

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Sources and references

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OMIM Rare Disease Search Engine

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