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Mitochondrial neurogastrointestinal encephalomyopathy

MedGen UID:
167876
Concept ID:
C0872218
Disease or Syndrome
Synonyms: Mitochondrial neurogastrointestinal encephalopathy syndrome; MNGIE syndrome; Thymidine phosphorylase deficiency
SNOMED CT: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (718214007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017575
OMIM®: 590060; 603041
Orphanet: ORPHA298

Definition

Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial neurogastrointestinal encephalomyopathy

Professional guidelines

PubMed

Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Vantyghem MC, Cornillon J, Decanter C, Defrance F, Karrouz W, Leroy C, Le Mapihan K, Couturier MA, De Berranger E, Hermet E, Maillard N, Marcais A, Francois S, Tabrizi R, Yakoub-Agha I; Société Française de Thérapie Cellulaire
Orphanet J Rare Dis 2014 Oct 29;9:162. doi: 10.1186/s13023-014-0162-0. PMID: 25496809Free PMC Article
DiMauro S
Acta Myol 2010 Oct;29(2):333-8. PMID: 21314015Free PMC Article

Recent clinical studies

Etiology

Du J, Zhang C, Liu F, Liu X, Wang D, Zhao D, Shui G, Zhao Y, Yan C
J Mol Med (Berl) 2023 Oct;101(10):1237-1253. Epub 2023 Aug 21 doi: 10.1007/s00109-023-02358-9. PMID: 37603049
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C
Neurogastroenterol Motil 2023 Oct;35(10):e14643. Epub 2023 Jul 13 doi: 10.1111/nmo.14643. PMID: 37448106
D'Angelo R, Boschetti E, Amore G, Costa R, Pugliese A, Caporali L, Gramegna LL, Papa V, Vizioli L, Capristo M, Contin M, Mohamed S, Cenacchi G, Lodi R, Morelli MC, Fasano L, Pisani L, Cescon M, Tonon C, Pinna AD, Dotti MT, Sicurelli F, Scarpelli M, Filosto M, Casali C, Pironi L, Carelli V, De Giorgio R, Rinaldi R
J Neurol 2020 Dec;267(12):3702-3710. Epub 2020 Jul 18 doi: 10.1007/s00415-020-10051-x. PMID: 32683607
Wong LJ
Semin Neurol 2012 Feb;32(1):55-61. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306387. PMID: 22422207
Rahman S, Hanna MG
J Neurol Neurosurg Psychiatry 2009 Sep;80(9):943-53. doi: 10.1136/jnnp.2008.158279. PMID: 19684231

Diagnosis

Wang H, Ruan G, Yang S, Li H, Sun Z, Tian B, Yan P, Li Y, Yang H, Zhong Y, Qian J
Am J Med Genet A 2023 Dec;191(12):2819-2824. Epub 2023 Aug 2 doi: 10.1002/ajmg.a.63361. PMID: 37530213
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Wong LJ
Semin Neurol 2012 Feb;32(1):55-61. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306387. PMID: 22422207
Hirano M, Nishigaki Y, Martí R
Neurologist 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04. PMID: 14720311
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Therapy

Rossi L, Pierigè F, Aliano MP, Magnani M
BioDrugs 2020 Jun;34(3):265-272. doi: 10.1007/s40259-020-00415-0. PMID: 32198632Free PMC Article
Spagnoli C, Pisani F, Di Mario F, Leandro G, Gaiani F, De' Angelis GL, Fusco C
Acta Biomed 2018 Dec 17;89(9-S):22-32. doi: 10.23750/abm.v89i9-S.7956. PMID: 30561392Free PMC Article
DiMauro S
Acta Myol 2010 Oct;29(2):333-8. PMID: 21314015Free PMC Article
Dimauro S, Mancuso M, Naini A
Ann N Y Acad Sci 2004 Apr;1011:232-45. doi: 10.1196/annals.1293.023. PMID: 15126300
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Prognosis

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
Brain 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
D'Angelo R, Boschetti E, Amore G, Costa R, Pugliese A, Caporali L, Gramegna LL, Papa V, Vizioli L, Capristo M, Contin M, Mohamed S, Cenacchi G, Lodi R, Morelli MC, Fasano L, Pisani L, Cescon M, Tonon C, Pinna AD, Dotti MT, Sicurelli F, Scarpelli M, Filosto M, Casali C, Pironi L, Carelli V, De Giorgio R, Rinaldi R
J Neurol 2020 Dec;267(12):3702-3710. Epub 2020 Jul 18 doi: 10.1007/s00415-020-10051-x. PMID: 32683607
Hanbali A, Rasheed W, Peedikayil MC, Boholega S, Alzahrani HA
Exp Clin Transplant 2018 Dec;16(6):773-778. Epub 2017 Apr 14 doi: 10.6002/ect.2016.0109. PMID: 28411356
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Clinical prediction guides

Du J, Zhang C, Liu F, Liu X, Wang D, Zhao D, Shui G, Zhao Y, Yan C
J Mol Med (Berl) 2023 Oct;101(10):1237-1253. Epub 2023 Aug 21 doi: 10.1007/s00109-023-02358-9. PMID: 37603049
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C
Neurogastroenterol Motil 2023 Oct;35(10):e14643. Epub 2023 Jul 13 doi: 10.1111/nmo.14643. PMID: 37448106
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
Brain 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Garone C, Tadesse S, Hirano M
Brain 2011 Nov;134(Pt 11):3326-32. Epub 2011 Sep 20 doi: 10.1093/brain/awr245. PMID: 21933806Free PMC Article

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