KEGG   DISEASE: Mitochondrial neurogastrointestinal encephalomyopathyHelp
Entry
H01390                      Disease                                

Name
Mitochondrial neurogastrointestinal encephalomyopathy;
MNGIE Syndrome
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations. Rare cases of MNGIE-like phenotype have been linked to RRM2B and POLG mutations.
Category
Inherited metabolic disease; Neurodegenerative disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01390  Mitochondrial neurogastrointestinal encephalomyopathy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01390  Mitochondrial neurogastrointestinal encephalomyopathy
BRITE hierarchy
Pathway
hsa00240  Pyrimidine metabolism
Gene
TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
Comment
(TYMP mutation)
G1419A, G1443A, A3371C
(RRM2B mutation)
G329A, G362A
(POLG mutation)
C752T, C1760T, A2591T
Other DBs
ICD-11: 5C53.20
ICD-10: G71.3
MeSH: C537477
OMIM: 613662 603041 612075
Reference
  Authors
Nishino I, Spinazzola A, Hirano M
  Title
MNGIE: from nuclear DNA to mitochondrial DNA.
  Journal
Neuromuscul Disord 11:7-10 (2001)
DOI:10.1016/S0960-8966(00)00159-0
Reference
  Authors
Tang S, Dimberg EL, Milone M, Wong LJ
  Title
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
  Journal
J Neurol 259:862-8 (2012)
DOI:10.1007/s00415-011-6268-6
Reference
  Authors
Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M
  Title
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
  Journal
Arch Neurol 66:1028-32 (2009)
DOI:10.1001/archneurol.2009.139
Reference
PMID:9924029
  Authors
Nishino I, Spinazzola A, Hirano M
  Title
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
  Journal
Science 283:689-92 (1999)
DOI:10.1126/science.283.5402.689
Reference
  Authors
Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J
  Title
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
  Journal
Eur J Hum Genet 11:547-9 (2003)
DOI:10.1038/sj.ejhg.5201002

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