Mitochondrial DNA depletion syndrome 6
MTDPS6

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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
Leukodystrophy nervous 67 % 16909392 2011-10-12
Developmental delay multi 67 % 16909392 2011-10-12
Lactate accumulation circulatory 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
Hypotonia nervous 33 % 16909392 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
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,

Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS).

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,

Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NNH have been described. Mitochondrial DNA (mtDNA) depletion was detected in the livers of two patients, suggesting a primary defect in mtDNA maintenance. Homozygosity mapping of two families with NNH suggested linkage to chromosome 2p24. This locus includes the MPV17 gene, which, when mutated, causes a hepatocerebral form of mtDNA depletion. Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere. Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations.

American journal of human genetics - Sep 2006