Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
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
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 GeneticVariation disease BEFREE We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. 24321534 2014
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 GeneticVariation disease BEFREE Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. 17694548 2007
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 GeneticVariation disease BEFREE Mutations in the MPV17 gene have been reported in patients who came to medical attention during infancy with liver failure, hypoglycemia, failure-to-thrive and neurological symptoms. 20074988 2010
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 GeneticVariation disease BEFREE Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. 28673863 2017
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 Biomarker disease BEFREE MPV17 is one of the genes causing combined encephalopathy and liver failure and at present there is no treatment for this devastating disease. 20614188 2010
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 GeneticVariation disease BEFREE Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. 31664948 2019
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.370 Biomarker disease BEFREE However, when expression of human MPV17 is carried out by adeno-associated virus (AAV)-mediated gene replacement, the Mpv17 knockout mice are able to reconstitute the Mpv17-containing supramolecular complex, restore liver mtDNA copy number and oxidative phosphorylation (OXPHOS) proficiency, and prevent liver failure induced by the KD. 24247928 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.310 GeneticVariation disease BEFREE We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. 24321534 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.310 GeneticVariation disease BEFREE The coat of the Mpv17(-/-) mice turned gray early in adulthood, and 18-month or older mice developed focal segmental glomerulosclerosis (FSGS) with massive proteinuria. 18818194 2009
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease BEFREE MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 28673863 2017
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 Biomarker disease BEFREE MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. 20074988 2010
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
0.230 GeneticVariation disease BEFREE Interestingly, overexpression of Odc1p was also shown previously to rescue yeast models of mitochondrial diseases caused by defects in the assembly of ATP synthase and by mutations in the MPV17 protein that result in hepatocerebral mitochondrial DNA depletion syndrome. 28188263 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.220 GeneticVariation group BEFREE Mice carrying a retroviral insert in both alleles of the Mpv17 gene develop glomerulosclerosis and nephrotic syndrome at young age. 8281143 1993
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.220 Biomarker group BEFREE The transgenic mouse strain Mpv17 develops severe morphological degeneration of the inner ear and nephrotic syndrome at a young age (Meyer zum Gottesberge et al., 1996; Weiher et al., 1990). 9447939 1997
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.120 GeneticVariation disease BEFREE Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. 31664948 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.120 GeneticVariation disease BEFREE Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. 28673863 2017
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.110 GeneticVariation disease BEFREE In spite of severe mtDNA depletion, only moderate decrease in respiratory chain enzymatic activities, and mild cytoarchitectural alterations, were observed in the Mpv17(-/-) livers, but neither cirrhosis nor failure ever occurred in this organ at any age. 18818194 2009
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations. 17694548 2007
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
0.100 GeneticVariation disease BEFREE We find that roy orbison is caused by an intronic defect in the gene mpv17, encoding an inner mitochondrial membrane protein that has been implicated in the human mitochondrial DNA depletion syndrome. 28760346 2017