Mitochondrial neurogastrointestinal encephalopathy
MNGIE

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Prevalence (%) of clinical parameters based on data from 2 references describing 59 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Leukodystrophy nervous 100 % 10852545 2011-10-22
Gastrointestinal dysmotility digestive 100 % 10852545 2011-10-18
Neuropathy nervous 100 % 10852545 2011-10-10
Ptosis nervous 100 % 10852545 2011-10-10
Ophthalmoplegia nervous 100 % 10852545 2011-10-10
Weight loss multi 100 % 10852545 2011-10-10
Myopathy skeletal 100 % 10852545 2011-10-22
Abdominal pain digestive 94 % 10852545 2012-07-25
Diarrhea digestive 93 % 10852545 2011-10-10
Gastrointestinal dysmotility digestive 83 % 8164833 2011-10-05
Areflexia nervous 82 % 10852545 2011-10-10
Vomiting digestive 74 % 10852545 2011-10-10
Lactate accumulation circulatory 63 % 10852545 2011-10-22
Hearing loss nervous 45 % 10852545 2011-10-10
Retinitis pigmentosa nervous 6 % 10852545 2011-10-10
Mental retardation nervous 3 % 10852545 2011-10-10



List of references:


Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, C D Hahn, A M Connolly, A Verloes, J Guimarães, I Maillard, H Hamano, M A Donati, C E Semrad, J A Russell, A L Andreu, G M Hadjigeorgiou, T H Vu, S Tadesse, T G Nygaard, I Nonaka, I Hirano, E Bonilla, L P Rowland, S DiMauro, M Hirano,



Annals of neurology - Jun 2000



Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
M Hirano, G Silvestri, D M Blake, A Lombes, C Minetti, E Bonilla, A P Hays, R E Lovelace, I Butler, T E Bertorini,



Neurology - Apr 1994