NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Navajo neurohepatopathy is a hepato-cerebral variant of mitochondrial DNA depletion syndrome due to a specific mutation in MPV17, a gene located on human chromosome 2p.
|
18261905 |
2008 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
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.
|
16909392 |
2006 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Defects in a group of nuclear genes involved in the maintenance of mtDNA integrity may also affect the white matter; for example, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) caused by thymidine phosphorylase deficiency, Navajo neurohepatopathy (NNH) due to MPV17 mutations, and Alpers syndrome due to defects in DNA polymerase gamma (POLG).
|
22422207 |
2012 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy.
|
29282788 |
2018 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH).
|
26437932 |
2015 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome, characterized by early-onset liver failure, failure to thrive as well as central and peripheral neurological involvement.
|
30298599 |
2019 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
|
19520594 |
2009 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
|
27536553 |
2016 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
|
25016221 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy.
|
29282788 |
2018 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
|
23714749 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy.
|
29282788 |
2018 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
|
18695062 |
2008 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
|
17694548 |
2007 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
|
22508010 |
2012 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
|
23714749 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
|
25861990 |
2015 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
|
20074988 |
2010 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
|
23829229 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
|
24190800 |
2014 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
|
30833296 |
2019 |
NAVAJO NEUROHEPATOPATHY
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
|
17694548 |
2007 |