KEGG   DISEASE: ミトコンドリア神経性胃腸管系脳筋症
エントリ  
H01390                                                             
名称    
ミトコンドリア神経性胃腸管系脳筋症;
MNGIE 症候群
  上位グループ
ミトコンドリア DNA 枯渇症候群 [DS:H00469]
ミトコンドリア病 [DS:H01427]
概要    
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.
カテゴリ  
先天性代謝異常症; ミトコンドリア病
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  ミトコンドリア病
   H01390  ミトコンドリア神経性胃腸管系脳筋症
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H01390  ミトコンドリア神経性胃腸管系脳筋症
パスウェイ 
hsa00240  Pyrimidine metabolism
hsa00230  Purine metabolism
hsa00480  Glutathione metabolism
hsa04115  p53 signaling pathway
ネットワーク
nt06504 Base excision repair
病因遺伝子 
TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
LIG3 [HSA:3980] [KO:K10776]
コメント  
(TYMP mutation)
G1419A, G1443A, A3371C
(RRM2B mutation)
G329A, G362A
(POLG mutation)
C752T, C1760T, A2591T
リンク   
ICD-11: 5C53.20
ICD-10: G71.3
MeSH: C537477
OMIM: 613662 603041 612075 619780
文献    
  著者
Nishino I, Spinazzola A, Hirano M
  タイトル
MNGIE: from nuclear DNA to mitochondrial DNA.
  雑誌
Neuromuscul Disord 11:7-10 (2001)
DOI:10.1016/S0960-8966(00)00159-0
文献    
  著者
Tang S, Dimberg EL, Milone M, Wong LJ
  タイトル
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
  雑誌
J Neurol 259:862-8 (2012)
DOI:10.1007/s00415-011-6268-6
文献    
  著者
Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M
  タイトル
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
  雑誌
Arch Neurol 66:1028-32 (2009)
DOI:10.1001/archneurol.2009.139
文献    
PMID:9924029
  著者
Nishino I, Spinazzola A, Hirano M
  タイトル
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
  雑誌
Science 283:689-92 (1999)
DOI:10.1126/science.283.5402.689
文献    
PMID:12825077 (POLG)
  著者
Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J
  タイトル
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
  雑誌
Eur J Hum Genet 11:547-9 (2003)
DOI:10.1038/sj.ejhg.5201002
文献    
PMID:33855352 (LIG3)
  著者
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
  タイトル
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
  雑誌
Brain 144:1451-1466 (2021)
DOI:10.1093/brain/awab056
LinkDB    

» English version

DBGET integrated database retrieval system