Mitochondria Phenome Knowledgebase

Gene Symbol MPV17
Ensembl ID ENSG00000115204 Entrez 4358
Gene Alias SYM1 Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 2p23.3 Subcell PMIDs 16582910
OMIM Gene 137960 Protein Complex
Swissprot ID P39210 Swissprot Description Protein Mpv17
OMIM Disease Mitochondrial DNA depletion syndrome (MDS hepatocerebral form) [251880]; Navajo neurohepatopathy (NNH) [256810]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
MPV17 256810 Neoplasms oncologic #11431741
MPV17 256810 Digestive-system-neoplasms oncologic #11431741
MPV17 256810 Hepatocellular-carcinoma oncologic 11431741
MPV17 251880 Musculoskeletal-diseases musculoskeletal #16582910
MPV17 256810 Musculoskeletal-diseases musculoskeletal #185990
MPV17 251880 Bone-diseases musculoskeletal #16582910
MPV17 256810 Bone-diseases musculoskeletal #185990
MPV17 251880 Spinal-diseases neurogenic kyphoscoliosis; kyphosis; scoliosis musculoskeletal 16582910
MPV17 256810 Pathological-fractures painless fractures musculoskeletal 185990
MPV17 251880 Digestive-system-diseases gastrointestinal #16582910
MPV17 256810 Digestive-system-diseases gastrointestinal #185990 #2300261 #10518083 #11431741 #16909392
MPV17 256810 Biliary-tract-diseases gastrointestinal #10518083
MPV17 256810 Cholestasis gastrointestinal 10518083
MPV17 256810 Gastrointestinal-diseases gastrointestinal #10518083 #11431741
MPV17 256810 Deglutition-disorders swallowing difficulties gastrointestinal 10518083
MPV17 256810 Esophageal-varices gastrointestinal 10518083 11431741
MPV17 256810 Gastrointestinal-hemorrhage gastrointestinal #10518083
MPV17 256810 Hematemesis gastrointestinal 10518083
MPV17 251880 Liver-diseases liver failure gastrointestinal 16582910
MPV17 256810 Liver-diseases hepatic failure; hepatopathy; liver fibrosis; intracellular glycogen accumulation; multinucleated giant cells gastrointestinal #185990 2300261 10518083 11431741 16909392
MPV17 256810 Fatty-liver steatosis; macrovesicular steatosis; microvesicular steatosis gastrointestinal 10518083 11431741
MPV17 256810 Liver-cirrhosis hepatic cirrhosis gastrointestinal 185990 10518083 11431741
MPV17 256810 Liver-enzymes-abnormal GGT elevated; transaminases elevated gastrointestinal 10518083 11431741
MPV17 256810 Hepatomegaly gastrointestinal 2300261 10518083 11431741
MPV17 256810 Abdominal-pain abdominal distension gastrointestinal 11431741
MPV17 256810 Respiratory-tract-diseases respiratory #10518083 #11431741
MPV17 256810 Lung-diseases respiratory #11431741
MPV17 256810 Pneumonia aspiration pneumonia respiratory 11431741
MPV17 256810 Respiration-disorders respiratory distress respiratory 10518083
MPV17 251880 Nervous-system-diseases neurologic #16582910
MPV17 256810 Nervous-system-diseases neurologic #185990 #2300261 #10518083 #11431741 #16909392
MPV17 251880 Central-nervous-system-diseases neurologic #16582910
MPV17 256810 Central-nervous-system-diseases neurologic #2300261 #10518083 #11431741 #16909392
MPV17 256810 Brain-diseases neurologic #2300261 #10518083 #11431741 #16909392
MPV17 256810 Seizures hypoglycemic seizures neurologic 11431741
MPV17 256810 Leukoencephalopathy MRI findings; cerebral leukoencephalopathy; cerebellar leukoencephalopathy neurologic 2300261 10518083 11431741 16909392
MPV17 251880 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; cerebellar white matter abnormal; substantia nigra abnormal; substantia nigra lesion neurologic 16582910
MPV17 256810 Neuronal-loss-and-lesions MRI findings; white matter lesions neurologic 2300261 11431741
MPV17 251880 Neurologic-manifestations neurologic #16582910
MPV17 256810 Neurologic-manifestations neurologic #185990 #10518083 #11431741
MPV17 251880 Ataxia spinocerebellar ataxia neurologic 16582910
MPV17 251880 Myoclonus hands; lower extremities neurologic 16582910
MPV17 256810 Gait-disorders wide based neurologic 10518083
MPV17 251880 Neurobehavioral-manifestations neurologic #16582910
MPV17 256810 Neurobehavioral-manifestations neurologic #10518083
MPV17 251880 Mental-retardation neurologic 16582910
MPV17 256810 Mental-retardation academic difficulties neurologic 10518083
MPV17 256810 Developmental-delay development delayed; motor development delayed neurologic 10518083
MPV17 256810 Neuromuscular-manifestations neurologic #185990 #10518083 #11431741
MPV17 256810 Muscle-hypotonia hypotonia neurologic 10518083 11431741
MPV17 256810 Muscle-weakness progressive neurologic 185990 10518083
MPV17 256810 Muscular-atrophy neurogenic atrophy; wasting neurologic 10518083 11431741
MPV17 256810 Reflexes-abnormal neurologic #185990 #10518083 #11431741
MPV17 256810 Hyporeflexia areflexia neurologic 185990 10518083 11431741
MPV17 256810 Peripheral-nervous-system-diseases neurologic #185990 #2300261 #10518083 #11431741 #16909392
MPV17 256810 Polyneuropathies sensory neuropathy; motor neuropathy; progressive; stocking glove sensory loss; pain sensation absent neurologic 185990 2300261 10518083 11431741 16909392
MPV17 256810 Eye-diseases ophthalmologic #185990 #2300261 #10518083 #16909392
MPV17 256810 Corneal-diseases corneal anesthesia; scarring; corneal ulcers; corneal ulcerations ophthalmologic 185990 2300261 10518083 16909392
MPV17 256810 Vision-disorders due to corneal scarring ophthalmologic 10518083
MPV17 256810 Genitourinary-diseases genitourinary #10518083
MPV17 256810 Urologic-diseases genitourinary #10518083
MPV17 256810 Kidney-diseases genitourinary #10518083
MPV17 256810 Renal-insufficiency renal dysfunction genitourinary 10518083
MPV17 251880 Cardiovascular-diseases cardiovascular #16582910
MPV17 251880 Cardiorespiratory-arrest early death cardiovascular 16582910
MPV17 256810 Hematologic-diseases hematologic #10518083
MPV17 256810 Blood-coagulation-disorders prothrombin time prolonged hematologic 10518083
MPV17 256810 Skin-diseases acral mutilations; recurrent skin infections dermatologic 185990 2300261 10518083 16909392
MPV17 251880 Metabolic-diseases metabolic #16582910
MPV17 256810 Metabolic-diseases metabolic #2300261 #10518083 #11431741 #16909392
MPV17 256810 Acid-base-imbalance metabolic #10518083 #11431741 #16909392
MPV17 256810 Acidosis metabolic acidosis metabolic 10518083 11431741 16909392
MPV17 256810 Metabolic-brain-diseases metabolic #2300261
MPV17 256810 Reye-like-symptoms Reye syndrome like episodes metabolic 2300261
MPV17 251880 Glucose-metabolism-disorders metabolic #16582910
MPV17 256810 Glucose-metabolism-disorders metabolic #10518083 #11431741
MPV17 251880 Hypoglycemia dietary control of hypoglycemia metabolic 16582910
MPV17 256810 Hypoglycemia metabolic 10518083 11431741
MPV17 256810 Hyperbilirubinemia jaundice metabolic 2300261 10518083 11431741
MPV17 256810 Endocrine-system-diseases endocrinologic #185990 #2300261
MPV17 256810 Gonadal-disorders endocrinologic #185990 #2300261
MPV17 256810 Hypogonadism endocrinologic #185990 #2300261
MPV17 256810 Sexual-infantilism endocrinologic 185990 2300261
MPV17 256810 Immune-system-diseases immunologic #185990 #2300261 #10518083 #11431741 #16909392
MPV17 256810 Infections systemic infections; intercurrent illness; varicella infection; sepsis immunologic 185990 2300261 10518083 11431741 16909392
MPV17 256810 Body-temperature-changes miscellaneous #10518083
MPV17 256810 Fever febrile illnesses miscellaneous 10518083
MPV17 251880 Growth-disorders miscellaneous #16582910
MPV17 256810 Growth-disorders miscellaneous #185990 #2300261 #10518083 #11431741 #16909392
MPV17 256810 Failure-to-thrive failure to gain weight miscellaneous 185990 2300261 10518083 11431741 16909392
MPV17 251880 Growth-deficiency miscellaneous 16582910
MPV17 256810 Growth-deficiency short stature; poor growth miscellaneous 2300261 10518083
MPV17 251880 RCCI-deficiency muscle; fibroblasts miscellaneous 16582910
MPV17 256810 RCCI-deficiency liver miscellaneous 11431741 16909392
MPV17 256810 RCCIII-deficiency liver miscellaneous 11431741 16909392
MPV17 251880 RCCIV-deficiency muscle; fibroblasts miscellaneous 16582910
MPV17 256810 RCCIV-deficiency liver miscellaneous 11431741 16909392

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