Synonyms |
MNGIE, TYMP-RELATED
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
POLIP SYNDROME
MTDPS1
POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED
|
|
altLabel |
MNGIE, TYMP-RELATED MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME POLIP SYNDROME MTDPS1 POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED
|
|
Scope Statement |
Onset in second to fifth decade [MISCELLANEOUS] Caused by mutation in the thymidine phosphorylase gene (TYMP, 131222.0001) [MOLECULAR BASIS] Early death in early adulthood often associated with diverticulitis and intestinal perforation [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
|
|