Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Preferred Label : Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;

Symbol : JPHT;

CISMeF acronym : JPHT; JPS/HHT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Juvenile polyposis with hereditary hemorrhagic telangiectasia; Telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli; Polyposis, generalized juvenile, with pulmonary arteriovenous malformation; Jp/hht syndrome; JPS/HHT;

Description : The JP/HHT syndrome phenotype refers of the coexistence of juvenile polyposis syndrome (JPS; 174900) and hereditary hemorrhagic telangiectasia (HHT; 187300) 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mothers against decapentaplegic, Drosophila homolog of, 4 gene (SMAD4, 600993.0007);

Neoplasia : Increased risk of gastrointestinal cancer;

Prefixed ID : #175050;

Details

Origin ID

175050;

UMLS CUI

C1832942;

Automatic exact mappings (from CISMeF team)
- Juvenile polyposis syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder) [SNOMED CT concept]
- juvenile polyposis with hereditary hemorrhagic telangiectasia [MeSH concept]
- juvenile polyposis with hereditary hemorrhagic telangiectasia [MeSH Supplementary Concept]
DO Cross reference
- juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome [DO Concept]
Genes related to phenotype
- Smad family member 4 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Aortic aneurysm [HPO term]
- Aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral arteriovenous malformation [HPO term]
- Clubbing [HPO term]
- Epistaxis [HPO term]
- Gastrointestinal carcinoma [HPO term]
- Hamartomatous polyposis [HPO term]
- Hematochezia [HPO term]
- Hepatic arteriovenous malformation [HPO term]
- Juvenile gastrointestinal polyposis [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Pulmonary arteriovenous malformation [HPO term]
- Stroke [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Generalized juvenile polyposis/juvenile polyposis coli [ORDO Disease]
- Juvenile polyposis of infancy [ORDO Disease]
- Juvenile polyposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder) [SNOMED CT concept]
- juvenile polyposis with hereditary hemorrhagic telangiectasia [MeSH Supplementary Concept]
- juvenile polyposis with hereditary hemorrhagic telangiectasia [MeSH concept]

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