Mitochondrial DNA depletion syndrome 6
MTDPS6

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Prevalence (%) of clinical parameters based on data from 2 references describing 9 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
Lactate accumulation circulatory 100 % 18695062 2011-10-18
Hypoglycemia circulatory 100 % 18695062 2011-10-05
Hepatomegaly digestive 100 % 18695062 2011-10-05
Liver failure digestive 100 % 18695062 2011-10-05
Failure to thrive multi 100 % 18695062 2011-10-12
Hepatopathy digestive 100 % 18695062 2011-10-12
Hepatopathy digestive 83 % 16909392 2011-10-12
Neuropathy nervous 83 % 16909392 2011-10-12
Areflexia nervous 83 % 16909392 2011-10-12
Muscle weakness skeletal 83 % 16909392 2011-10-12
Lactate accumulation circulatory 67 % 16909392 2011-10-12
Leukodystrophy nervous 67 % 16909392 2011-10-12
Developmental delay multi 67 % 16909392 2011-10-12
Short stature multi 67 % 16909392 2011-10-12
Coagulopathy digestive 66 % 18695062 2011-10-12
Hypotonia nervous 66 % 18695062 2011-10-12
Failure to thrive multi 50 % 16909392 2011-10-12
Diarrhea digestive 33 % 18695062 2011-10-12
Jaundice digestive 33 % 18695062 2011-10-12
Microcephaly nervous 33 % 18695062 2011-10-12
Dystonia nervous 33 % 18695062 2011-10-12
Cholestasis digestive 33 % 18695062 2011-10-12
Nystagmus nervous 33 % 18695062 2011-10-12
Hypotonia nervous 33 % 16909392 2011-10-12
Cholestasis digestive 17 % 16909392 2011-10-12
Mental retardation nervous 17 % 16909392 2011-10-12
Ataxia circulatory 17 % 16909392 2011-10-18
Seizures nervous 17 % 16909392 2011-10-12
Cancer digestive 17 % 16909392 2011-10-12



List of references:


Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Antonella Spinazzola, René Santer, Orhan H Akman, Kostas Tsiakas, Hansjoerg Schaefer, Xiaoqi Ding, Charalampos L Karadimas, Sara Shanske, Jaya Ganesh, Salvatore Di Mauro, Massimo Zeviani,



Archives of neurology - Aug 2008



Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
Charalampos L Karadimas, Tuan H Vu, Stephen A Holve, Penelope Chronopoulou, Catarina Quinzii, Stanley D Johnsen, Janice Kurth, Elizabeth Eggers, Lluis Palenzuela, Kurenai Tanji, Eduardo Bonilla, Darryl C De Vivo, Salvatore DiMauro, Michio Hirano,



American journal of human genetics - Sep 2006