KEGG   DISEASE: Mitochondrial neurogastrointestinal encephalomyopathy
Entry
H01390                      Disease                                
Name
Mitochondrial neurogastrointestinal encephalomyopathy;
MNGIE Syndrome
  Supergrp
Mitochondrial DNA depletion syndrome [DS:H00469]
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
Congenital disorder of metabolism; 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
Related
pathway
hsa00240  Pyrimidine metabolism
hsa00230  Purine metabolism
hsa00480  Glutathione metabolism
hsa04115  p53 signaling pathway
Network
nt06504  Base excision repair
Gene
TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
LIG3 [HSA:3980] [KO:K10776]
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 619780
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
PMID:12825077 (POLG)
  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
Reference
PMID:33855352 (LIG3)
  Authors
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
  Title
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
  Journal
Brain 144:1451-1466 (2021)
DOI:10.1093/brain/awab056
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