Egenskaber

Egenskaber knyttet til MPV17

mitochondrial inner membrane protein MPV17

Human Phenotype Ontology knytter 180 egenskaber til MPV17, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

Abnormality of the nervous system

Egenskab	Hvor ofte det ses
Abnormal gait	Altid
Abnormality of balance	Altid
Balance impairment	Altid
Decreased number of peripheral myelinated nerve fibers	Altid
Depression	Altid
Elevated brain lactate level by MRS	Altid
High stepping	Altid
Impaired distal proprioception	Altid
Impaired vibratory sensation	Altid
Incoordination	Altid
Loss of developmental milestones	Altid
Memory impairment	Altid
Parkinsonism	Altid
Peripheral axonal neuropathy	Altid
Peripheral nerve disease	Altid
Positive Romberg sign	Altid
Unsteady walk	Altid
Absent reflexes	Meget ofte (80–99 %)
Decreased touch sensation in extremities	Meget ofte (80–99 %)
Dystonia	Meget ofte (80–99 %)
Decreased reflex response	Ofte (30–79 %)
Decreased sensation in extremities	Ofte (30–79 %)
Delayed motor skills	Ofte (30–79 %)
Diffuse leukoencephalopathy	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Hyperintensity of cerebral white matter on MRI	Ofte (30–79 %)
Impaired executive functioning	Ofte (30–79 %)
Loss of ability to walk	Ofte (30–79 %)
Motor delay	Ofte (30–79 %)
Muscle twitch	Ofte (30–79 %)
Delayed CNS myelination	Nogle gange (5–29 %)
Encephalopathy	Nogle gange (5–29 %)
Intellectual disability, mild	Nogle gange (5–29 %)
Motor polyneuropathy	Nogle gange (5–29 %)
Peripheral neuropathy	Nogle gange (5–29 %)
Periventricular leukomalacia	Nogle gange (5–29 %)
Reduced cerebral white matter volume	Nogle gange (5–29 %)
Wide based walk	Nogle gange (5–29 %)
Ataxia	Ikke registreret
Decreased distal sensory nerve action potential	Ikke registreret
Nerve damage causing decreased feeling and movement	Ikke registreret
Pain insensitivity	Ikke registreret

Laboratory abnormality

Egenskab	Hvor ofte det ses
Dehydration	Altid
Elevated alkaline phosphatase	Altid
Elevated serum ferritin	Altid
High blood bilirubin levels	Altid
High urine lactic acid levels	Altid
Increased CSF lactate	Altid
Increased CSF protein concentration	Altid
Increased serum bile acid concentration	Altid
Increased tyrosine in blood	Altid
Microvesicular hepatic steatosis	Altid
Noninsulin-dependent diabetes	Altid
Elevated circulating alanine aminotransferase concentration	Meget ofte (80–99 %)
Elevated circulating aspartate aminotransferase concentration	Meget ofte (80–99 %)
Elevated lactate:pyruvate ratio	Meget ofte (80–99 %)
High blood ammonia levels	Meget ofte (80–99 %)
Increased lactate in body	Meget ofte (80–99 %)
Metabolic acidosis	Meget ofte (80–99 %)
Conjugated hyperbilirubinemia	Ofte (30–79 %)
Dark urine	Ofte (30–79 %)
Elevated circulating alpha-fetoprotein concentration	Ofte (30–79 %)
Elevated gamma-glutamyltransferase level	Ofte (30–79 %)
Fatty infiltration of liver	Ofte (30–79 %)
Higher than normal levels of lactate in blood	Ofte (30–79 %)
Increased circulating pyruvate concentration	Ofte (30–79 %)
Low albumin	Ofte (30–79 %)
Low blood sugar	Ofte (30–79 %)
Macrovesicular hepatic steatosis	Ofte (30–79 %)
Recurrent low blood sugar levels	Ofte (30–79 %)
High liver enzymes	Ikke registreret
Mildly elevated creatine kinase	Ikke registreret

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Acute liver failure	Altid
Constipation	Altid
Gallstones	Altid
Gastrointestinal dysmotility	Altid
Impaired release of bile from liver	Altid
Increased hepatic echogenicity	Altid
Periportal fibrosis	Altid
Poor suck	Altid
Slowed or blocked flow of bile from liver	Altid
Accumulation of fluid in the abdomen	Ofte (30–79 %)
Acid reflux	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Enlarged liver	Ofte (30–79 %)
Episodic vomiting	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Jaundice	Ofte (30–79 %)
Liver failure	Ofte (30–79 %)
Scar tissue replaces healthy tissue in the liver	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Abdominal bloating	Nogle gange (5–29 %)
Death of liver cells	Nogle gange (5–29 %)
Hepatocellular carcinoma	Nogle gange (5–29 %)
Micronodular cirrhosis	Nogle gange (5–29 %)
Pancreatic inflammation	Nogle gange (5–29 %)
Prolonged yellowing of skin in newborn	Ikke registreret
Reye syndrome-like episodes	Ikke registreret

Abnormality of the musculoskeletal system

Egenskab	Hvor ofte det ses
Ankle weakness	Altid
Appendicular hypotonia	Altid
Decreased lung function due to weak breathing muscles	Altid
Diffuse skeletal muscle wasting	Altid
Distal lower limb amyotrophy	Altid
EMG: myopathic abnormalities	Altid
Generalized decreased muscle tone	Altid
Low muscle tone in trunk	Altid
Muscle flaccidity	Altid
Progressive proximal muscle weakness	Altid
Scoliosis	Altid
Low muscle tone	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Weakness of outermost muscles	Ofte (30–79 %)
Muscle degeneration	Nogle gange (5–29 %)
Progressive muscle weakness	Nogle gange (5–29 %)
Distal muscle wasting	Ikke registreret
EMG: chronic denervation signs	Ikke registreret
Increased susceptibility to fractures	Ikke registreret
Painless fractures due to injury	Ikke registreret

Abnormality of limbs

Egenskab	Hvor ofte det ses
Absent ankle reflexes	Altid
Claw toe deformity	Altid
Decreased Achilles reflex	Altid
Dropped arches	Altid
Foot drop	Altid
Hammertoe	Altid
Intrinsic hand muscle atrophy	Altid
Left and right leg differ in length or width	Altid
Unequal size of arms	Altid
Weakness of the intrinsic hand muscles	Altid
Lower limb muscle weakness	Meget ofte (80–99 %)
Autoamputation of digits	Ikke registreret
High-arched foot	Ikke registreret
Ulnar claw	Ikke registreret

Abnormality of the eye

Egenskab	Hvor ofte det ses
Breakdown of light-sensitive cells in back of eye	Altid
Drooping upper eyelid	Altid
Pigmentary retinopathy	Altid
Involuntary, rapid, rhythmic eye movements	Meget ofte (80–99 %)
Corneal scarring	Ofte (30–79 %)
Corneal ulceration	Ofte (30–79 %)
Weakness of muscles controlling eye movement	Ofte (30–79 %)
Horizontal nystagmus	Nogle gange (5–29 %)
Recurrent breakdown of clear protective layer of eye	Ikke registreret

Abnormal cellular phenotype

Egenskab	Hvor ofte det ses
Decreased activity of mitochondrial complex III	Altid
Depletion of mitochondrial DNA in liver	Altid
Mitochondrial depletion	Altid
Multiple mitochondrial DNA deletions	Altid
Decreased activity of mitochondrial complex I	Ofte (30–79 %)
Decreased activity of mitochondrial complex IV	Ofte (30–79 %)
Depletion of mitochondrial DNA in muscle tissue	Ofte (30–79 %)

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Global proximal tubulopathy	Altid
Kidney stone	Altid
Previous menstrual periods stop	Altid
Proximal tubulopathy	Ofte (30–79 %)
Increased calcium level in kidney	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskab	Hvor ofte det ses
Hypofibrinogenemia	Altid
Prolonged partial thromboplastin time	Altid
Prolonged prothrombin time	Meget ofte (80–99 %)
Abnormality of the coagulation cascade	Nogle gange (5–29 %)

Abnormality of the endocrine system

Egenskab	Hvor ofte det ses
Decreased parathyroid hormone secretion	Nogle gange (5–29 %)
Low blood cortisol level	Nogle gange (5–29 %)
Reduced circulating growth hormone concentration	Nogle gange (5–29 %)
Underactive thyroid	Nogle gange (5–29 %)

Abnormality of the integument

Egenskab	Hvor ofte det ses
Brittle hair	Altid
Reticular hyperpigmentation	Altid
Scaling skin	Altid
Acral ulceration	Ikke registreret

Growth abnormality

Egenskab	Hvor ofte det ses
Faltering weight	Ofte (30–79 %)
Growth delay	Ofte (30–79 %)
Small for gestational age	Nogle gange (5–29 %)
Short stature	Ikke registreret

Abnormality of head or neck

Egenskab	Hvor ofte det ses
Abnormally small head	Nogle gange (5–29 %)
Wide nasal bridge	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Egenskab	Hvor ofte det ses
Slow heartbeats	Altid
Increased spleen size	Ofte (30–79 %)

Constitutional symptom

Egenskab	Hvor ofte det ses
Decreased ability to exercise	Altid
Muscle ache	Altid

Abnormality of the ear

Egenskab	Hvor ofte det ses
Hearing impairment	Altid

Abnormality of the immune system

Egenskab	Hvor ofte det ses
Osteomyelitis leading to amputation due to slow healing fractures	Ikke registreret

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Breathing difficulties	Nogle gange (5–29 %)

Abnormality of the voice

Egenskab	Hvor ofte det ses
Weak cry	Altid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

Human Phenotype Ontology, version 2026-09-01: egenskaberne knyttet til MPV17 og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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