Details of Disease | DrugMAP

General Information of Disease (ID: DISHDB84)

Disease Name	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Synonyms	jPS/Hht; juvenile polyposis with hereditary hemorrhagic telangiectasia; JPHT; polyposis, generalised juvenile, with pulmonary arteriovenous malformation; JP/Hht syndrome; telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli; polyposis, generalized juvenile, with pulmonary arteriovenous malformation; juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Disease Hierarchy	DISFZFI4: Intestinal polyposis syndrome DISHDB84: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Disease Identifiers	MONDO ID MONDO_0008278 MESH ID C563412 UMLS CUI C1832942 OMIM ID 175050 MedGen ID 331400 SNOMED CT ID 1149069001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMAD4	OTWQWCKG	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.