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MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME (CUI C0872218) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0872218

NCI Thesaurus Code: C119678  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: 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.

GARD Definition: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Mitochondrial DNA Depletion Syndrome 1
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial Neurogastrointestinal Encephalopathy Disease
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial Neurogastrointestingal Encephalopathy
MNGIE Disease
MNGIE syndrome
MNGIE, TYMP-RELATED
MNGIE
MTDPS1
Myoneurogastrointestinal encephalopathy syndrome
Oculogastrointestinal muscular dystrophy
OGIMD
POLIP Syndrome
POLIP
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction
Thymidine phosphorylase deficiency

External Source Codes: 
NCI Thesaurus Code C119678 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
Contributing_Source CTRP NCI
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DID 5000-0048 CSP
DISEASE_IDENTIFIER_ID 20589 GARD
DISEASE_IDENTIFIER_ID 20590 GARD
DISEASE_IDENTIFIER_ID 20591 GARD
DISEASE_IDENTIFIER_ID 20592 GARD
DISEASE_IDENTIFIER_ID 20593 GARD
DISEASE_IDENTIFIER_ID 20594 GARD
DISEASE_IDENTIFIER_ID 20595 GARD
DISEASE_IDENTIFIER_ID 20596 GARD
DISEASE_IDENTIFIER_ID 32363 GARD
FR 51 MSH
GENELOCUS ,2,2,q,1,3,.,3,2,-,q,t,e,r, OMIM
GENESYMBOL ECGF1 OMIM
GENESYMBOL MEDPS1 OMIM
GENESYMBOL MNGIE OMIM
GENESYMBOL MTDPS1 OMIM
GENESYMBOL PDECGF OMIM
GENESYMBOL TYMP OMIM
HAS_GARD_PAGE true GARD
HM D007418 MSH
HM D017237 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150818 MSH
MOVED_FROM 550900 OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome/resources/1 GARD
RN 0 MSH
SC 3 MSH
SOS A severe, hereditary, congenital disorder with autosomal recessive inheritance that is characterized by neonatal HYPOTONIA; LACTIC ACIDOSIS, and neurologic deterioration. KIDNEY TUBULES may also be affected. Mutations in the RRM2B gene have been identified. OMIM: 612075 MSH
TERMUI T742733 MSH
TERMUI T742735 MSH
TERMUI T756726 MSH
TERMUI T823436 MSH
TERMUI T842020 MSH
TERMUI T842022 MSH
TERMUI T842025 MSH
TERMUI T842028 MSH
TERMUI T842029 MSH
TERMUI T845993 MSH
TERMUI T845994 MSH
TERMUI T845995 MSH
TH GHR (2014) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0872218

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