Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE Glomerulosclerosis associated more strongly with arteriosclerosis and ischemic-appearing glomeruli in the superficial region. 31278193 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 GeneticVariation disease BEFREE Crescents and Global Glomerulosclerosis in Chinese IgA Nephropathy Patients: A Five-Year Follow-Up. 30808856 2019
CUI: C0022346
Disease: Icterus
Icterus 		0.010 GeneticVariation phenotype 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: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.010 GeneticVariation disease BEFREE This report provides further evidence that MPV17 mutations should be considered in patients with pure, non-syndromic axonal neuropathy. 30298599 2019
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.010 GeneticVariation disease BEFREE The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations. 29272804 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 Biomarker group BEFREE Rarely, MPV17 deficiency can cause a late-onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. 29282788 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE Rarely, MPV17 deficiency can cause a late-onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. 29282788 2018
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		0.010 GeneticVariation disease BEFREE The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations. 29272804 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 Biomarker disease BEFREE Glomerulosclerosis was not correlated with adrenal morphology and neither kidney nor liver amyloidosis contributed significantly to variation in AW or ACMR on multivariate analyses. 28026881 2017
CUI: C0442833
Disease: Arteriolar hyalinosis
Arteriolar hyalinosis 		0.010 Biomarker disease BEFREE DM was significantly associated with decrease in percent eGFR (p<0.05) and increase in arteriolar hyalinosis (p=0.004), Glomerulosclerosis (p=0.03) and Interstitial fibrosis/ Tubular atrophy (p=.0001). 28379664 2017
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		0.010 Biomarker disease BEFREE Glomerulosclerosis and arteriolosclerosis scores were significantly lower (p<0.001) in the RMR+CAA group when compared with the RMR group. 29032332 2017
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		0.010 Biomarker phenotype BEFREE MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 28673863 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.010 GeneticVariation disease BEFREE Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. 22824774 2013
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation group BEFREE Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. 22824774 2013
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.010 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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 GeneticVariation group BEFREE Here we show that mutation of MPV17 - a gene implicated in severe, infantile hepatocerebral mtDNA depletion disorders characterised by a loss of mtDNA copies - can also cause clonally-expanded mtDNA deletion and focal cytochrome c oxidase (COX) deficiency in skeletal muscle associated with an adult presentation of neuropathy and leukoencephalopathy. 22508010 2012
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 GeneticVariation group BEFREE Here we show that mutation of MPV17 - a gene implicated in severe, infantile hepatocerebral mtDNA depletion disorders characterised by a loss of mtDNA copies - can also cause clonally-expanded mtDNA deletion and focal cytochrome c oxidase (COX) deficiency in skeletal muscle associated with an adult presentation of neuropathy and leukoencephalopathy. 22508010 2012
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 Biomarker group 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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 GeneticVariation group 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 GeneticVariation disease BEFREE We report on the clinical, biochemical and molecular findings of a patient presenting with lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy associated with mutations in MPV17. 18329934 2008
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 GeneticVariation disease LHGDN We report on the clinical, biochemical and molecular findings of a patient presenting with lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy associated with mutations in MPV17. 18329934 2008
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.010 GeneticVariation group BEFREE The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. 17053512 2006
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		0.010 GeneticVariation disease BEFREE The most recently described mitochondrial myopathies are due to defects in nuclear DNA, including coenzyme Q10 deficiency and mutations in genes controlling mitochondrial DNA abundance and structure, such as POLG, TK2, and MPV17. 17053512 2006
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 Biomarker disease BEFREE YLR251W has significant homology to the mammalian peroxisomal membrane protein Mpv17, and Mpv17(-/-) mice exhibit age-onset glomerulosclerosis, deafness, hypertension, and, ultimately, death by renal failure. 15189984 2004