Details of Disease | DrugMAP

General Information of Disease (ID: DIS82J8L)

Disease Name	Hereditary neuroendocrine tumor of small intestine
Synonyms	hereditary neuroendocrine tumor of small bowel; hereditary small intestine neuroendocrine neoplasm; hereditary neuroendocrine tumour of the small intestine; hereditary neuroendocrine tumour of small bowel; hereditary neuroendocrine tumor of the small intestine
Definition	An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.
Disease Hierarchy	DISYKSRF: Genetic disease DISCOG6H: Small intestine neuroendocrine neoplasm DIS82J8L: Hereditary neuroendocrine tumor of small intestine
Disease Identifiers	MONDO ID MONDO_0018698 UMLS CUI C5679993 MedGen ID 1826066 Orphanet ID 456333

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
IPMK	DESA9EX	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IPMK	OTENXIZX	Supportive	Autosomal dominant	[1]
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References

1	A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase. Gastroenterology. 2015 Jul;149(1):67-78. doi: 10.1053/j.gastro.2015.04.008. Epub 2015 Apr 9.