KEGG DISEASE: Mitochondrial neurogastrointestinal encephalomyopathy

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

Inherited metabolic disorder, Mitochondrial disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H01390  Mitochondrial neurogastrointestinal encephalomyopathy

Pathway

hsa03410 Base excision repair

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

PMID:11166160

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

PMID:21993618

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

PMID:19667227

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

LinkDB

» Japanese version

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