Traits

Traits linked to MPV17

mitochondrial inner membrane protein MPV17

The Human Phenotype Ontology links 180 traits to MPV17, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Abnormality of balance	Always
Balance impairment	Always
Decreased number of peripheral myelinated nerve fibers	Always
Depression	Always
Elevated brain lactate level by MRS	Always
High stepping	Always
Impaired distal proprioception	Always
Impaired vibratory sensation	Always
Incoordination	Always
Loss of developmental milestones	Always
Memory impairment	Always
Parkinsonism	Always
Peripheral axonal neuropathy	Always
Peripheral nerve disease	Always
Positive Romberg sign	Always
Unsteady walk	Always
Absent reflexes	Very often (80–99%)
Decreased touch sensation in extremities	Very often (80–99%)
Dystonia	Very often (80–99%)
Decreased reflex response	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
Delayed motor skills	Often (30–79%)
Diffuse leukoencephalopathy	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Hyperintensity of cerebral white matter on MRI	Often (30–79%)
Impaired executive functioning	Often (30–79%)
Loss of ability to walk	Often (30–79%)
Motor delay	Often (30–79%)
Muscle twitch	Often (30–79%)
Delayed CNS myelination	Sometimes (5–29%)
Encephalopathy	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Motor polyneuropathy	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Ataxia	Not recorded
Decreased distal sensory nerve action potential	Not recorded
Nerve damage causing decreased feeling and movement	Not recorded
Pain insensitivity	Not recorded

Laboratory abnormality

Trait	How often it is seen
Dehydration	Always
Elevated alkaline phosphatase	Always
Elevated serum ferritin	Always
High blood bilirubin levels	Always
High urine lactic acid levels	Always
Increased CSF lactate	Always
Increased CSF protein concentration	Always
Increased serum bile acid concentration	Always
Increased tyrosine in blood	Always
Microvesicular hepatic steatosis	Always
Noninsulin-dependent diabetes	Always
Elevated circulating alanine aminotransferase concentration	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Very often (80–99%)
Elevated lactate:pyruvate ratio	Very often (80–99%)
High blood ammonia levels	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Metabolic acidosis	Very often (80–99%)
Conjugated hyperbilirubinemia	Often (30–79%)
Dark urine	Often (30–79%)
Elevated circulating alpha-fetoprotein concentration	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Fatty infiltration of liver	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Increased circulating pyruvate concentration	Often (30–79%)
Low albumin	Often (30–79%)
Low blood sugar	Often (30–79%)
Macrovesicular hepatic steatosis	Often (30–79%)
Recurrent low blood sugar levels	Often (30–79%)
High liver enzymes	Not recorded
Mildly elevated creatine kinase	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acute liver failure	Always
Constipation	Always
Gallstones	Always
Gastrointestinal dysmotility	Always
Impaired release of bile from liver	Always
Increased hepatic echogenicity	Always
Periportal fibrosis	Always
Poor suck	Always
Slowed or blocked flow of bile from liver	Always
Accumulation of fluid in the abdomen	Often (30–79%)
Acid reflux	Often (30–79%)
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Episodic vomiting	Often (30–79%)
Feeding difficulties	Often (30–79%)
Jaundice	Often (30–79%)
Liver failure	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)
Vomiting	Often (30–79%)
Abdominal bloating	Sometimes (5–29%)
Death of liver cells	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Micronodular cirrhosis	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Prolonged yellowing of skin in newborn	Not recorded
Reye syndrome-like episodes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Ankle weakness	Always
Appendicular hypotonia	Always
Decreased lung function due to weak breathing muscles	Always
Diffuse skeletal muscle wasting	Always
Distal lower limb amyotrophy	Always
EMG: myopathic abnormalities	Always
Generalized decreased muscle tone	Always
Low muscle tone in trunk	Always
Muscle flaccidity	Always
Progressive proximal muscle weakness	Always
Scoliosis	Always
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Muscle degeneration	Sometimes (5–29%)
Progressive muscle weakness	Sometimes (5–29%)
Distal muscle wasting	Not recorded
EMG: chronic denervation signs	Not recorded
Increased susceptibility to fractures	Not recorded
Painless fractures due to injury	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Always
Claw toe deformity	Always
Decreased Achilles reflex	Always
Dropped arches	Always
Foot drop	Always
Hammertoe	Always
Intrinsic hand muscle atrophy	Always
Left and right leg differ in length or width	Always
Unequal size of arms	Always
Weakness of the intrinsic hand muscles	Always
Lower limb muscle weakness	Very often (80–99%)
Autoamputation of digits	Not recorded
High-arched foot	Not recorded
Ulnar claw	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Drooping upper eyelid	Always
Pigmentary retinopathy	Always
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Corneal scarring	Often (30–79%)
Corneal ulceration	Often (30–79%)
Weakness of muscles controlling eye movement	Often (30–79%)
Horizontal nystagmus	Sometimes (5–29%)
Recurrent breakdown of clear protective layer of eye	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex III	Always
Depletion of mitochondrial DNA in liver	Always
Mitochondrial depletion	Always
Multiple mitochondrial DNA deletions	Always
Decreased activity of mitochondrial complex I	Often (30–79%)
Decreased activity of mitochondrial complex IV	Often (30–79%)
Depletion of mitochondrial DNA in muscle tissue	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Global proximal tubulopathy	Always
Kidney stone	Always
Previous menstrual periods stop	Always
Proximal tubulopathy	Often (30–79%)
Increased calcium level in kidney	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypofibrinogenemia	Always
Prolonged partial thromboplastin time	Always
Prolonged prothrombin time	Very often (80–99%)
Abnormality of the coagulation cascade	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Sometimes (5–29%)
Low blood cortisol level	Sometimes (5–29%)
Reduced circulating growth hormone concentration	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always
Reticular hyperpigmentation	Always
Scaling skin	Always
Acral ulceration	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Small for gestational age	Sometimes (5–29%)
Short stature	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Always
Increased spleen size	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Muscle ache	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the immune system

Trait	How often it is seen
Osteomyelitis leading to amputation due to slow healing fractures	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Weak cry	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MPV17 and how often each is seen. Find out more at hpo.jax.org.

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