Terminology Service for NFDI4Health

Mitochondrial Neurogastrointestinal Encephalopathy

Go to external page http://purl.obolibrary.org/obo/NCIT_C119678


A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss. [ ]

Term info

Label

Mitochondrial Neurogastrointestinal Encephalopathy

Synonyms
  • MNGIE
  • Mitochondrial Neurogastrointestinal Encephalopathy
Subsets

NCIT_C118168, NCIT_C116977

Display Name

Mitochondrial Neurogastrointestinal Encephalopathy

Preferred Name

Mitochondrial Neurogastrointestinal Encephalopathy

Semantic Type

Disease or Syndrome

UMLS CUI

C0872218

code

C119678