Tunnused

Geeniga MPV17 seotud tunnused

mitochondrial inner membrane protein MPV17

Inimese fenotüübi ontoloogia seostab geeniga MPV17 180 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Dehydration	Alati
Elevated alkaline phosphatase	Alati
Elevated serum ferritin	Alati
High blood bilirubin levels	Alati
High urine lactic acid levels	Alati
Increased CSF lactate	Alati
Increased CSF protein concentration	Alati
Increased serum bile acid concentration	Alati
Increased tyrosine in blood	Alati
Microvesicular hepatic steatosis	Alati
Noninsulin-dependent diabetes	Alati
Elevated circulating alanine aminotransferase concentration	Väga sageli (80–99%)
Elevated circulating aspartate aminotransferase concentration	Väga sageli (80–99%)
Elevated lactate:pyruvate ratio	Väga sageli (80–99%)
High blood ammonia levels	Väga sageli (80–99%)
Increased lactate in body	Väga sageli (80–99%)
Metabolic acidosis	Väga sageli (80–99%)
Conjugated hyperbilirubinemia	Sageli (30–79%)
Dark urine	Sageli (30–79%)
Elevated circulating alpha-fetoprotein concentration	Sageli (30–79%)
Elevated gamma-glutamyltransferase level	Sageli (30–79%)
Fatty infiltration of liver	Sageli (30–79%)
Higher than normal levels of lactate in blood	Sageli (30–79%)
Increased circulating pyruvate concentration	Sageli (30–79%)
Low albumin	Sageli (30–79%)
Low blood sugar	Sageli (30–79%)
Macrovesicular hepatic steatosis	Sageli (30–79%)
Recurrent low blood sugar levels	Sageli (30–79%)
High liver enzymes	Pole registreeritud
Mildly elevated creatine kinase	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acute liver failure	Alati
Constipation	Alati
Gallstones	Alati
Gastrointestinal dysmotility	Alati
Impaired release of bile from liver	Alati
Increased hepatic echogenicity	Alati
Periportal fibrosis	Alati
Poor suck	Alati
Slowed or blocked flow of bile from liver	Alati
Accumulation of fluid in the abdomen	Sageli (30–79%)
Acid reflux	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Episodic vomiting	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Jaundice	Sageli (30–79%)
Liver failure	Sageli (30–79%)
Scar tissue replaces healthy tissue in the liver	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Abdominal bloating	Mõnikord (5–29%)
Death of liver cells	Mõnikord (5–29%)
Hepatocellular carcinoma	Mõnikord (5–29%)
Micronodular cirrhosis	Mõnikord (5–29%)
Pancreatic inflammation	Mõnikord (5–29%)
Prolonged yellowing of skin in newborn	Pole registreeritud
Reye syndrome-like episodes	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Ankle weakness	Alati
Appendicular hypotonia	Alati
Decreased lung function due to weak breathing muscles	Alati
Diffuse skeletal muscle wasting	Alati
Distal lower limb amyotrophy	Alati
EMG: myopathic abnormalities	Alati
Generalized decreased muscle tone	Alati
Low muscle tone in trunk	Alati
Muscle flaccidity	Alati
Progressive proximal muscle weakness	Alati
Scoliosis	Alati
Low muscle tone	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Weakness of outermost muscles	Sageli (30–79%)
Muscle degeneration	Mõnikord (5–29%)
Progressive muscle weakness	Mõnikord (5–29%)
Distal muscle wasting	Pole registreeritud
EMG: chronic denervation signs	Pole registreeritud
Increased susceptibility to fractures	Pole registreeritud
Painless fractures due to injury	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Absent ankle reflexes	Alati
Claw toe deformity	Alati
Decreased Achilles reflex	Alati
Dropped arches	Alati
Foot drop	Alati
Hammertoe	Alati
Intrinsic hand muscle atrophy	Alati
Left and right leg differ in length or width	Alati
Unequal size of arms	Alati
Weakness of the intrinsic hand muscles	Alati
Lower limb muscle weakness	Väga sageli (80–99%)
Autoamputation of digits	Pole registreeritud
High-arched foot	Pole registreeritud
Ulnar claw	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Breakdown of light-sensitive cells in back of eye	Alati
Drooping upper eyelid	Alati
Pigmentary retinopathy	Alati
Involuntary, rapid, rhythmic eye movements	Väga sageli (80–99%)
Corneal scarring	Sageli (30–79%)
Corneal ulceration	Sageli (30–79%)
Weakness of muscles controlling eye movement	Sageli (30–79%)
Horizontal nystagmus	Mõnikord (5–29%)
Recurrent breakdown of clear protective layer of eye	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex III	Alati
Depletion of mitochondrial DNA in liver	Alati
Mitochondrial depletion	Alati
Multiple mitochondrial DNA deletions	Alati
Decreased activity of mitochondrial complex I	Sageli (30–79%)
Decreased activity of mitochondrial complex IV	Sageli (30–79%)
Depletion of mitochondrial DNA in muscle tissue	Sageli (30–79%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Global proximal tubulopathy	Alati
Kidney stone	Alati
Previous menstrual periods stop	Alati
Proximal tubulopathy	Sageli (30–79%)
Increased calcium level in kidney	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Hypofibrinogenemia	Alati
Prolonged partial thromboplastin time	Alati
Prolonged prothrombin time	Väga sageli (80–99%)
Abnormality of the coagulation cascade	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased parathyroid hormone secretion	Mõnikord (5–29%)
Low blood cortisol level	Mõnikord (5–29%)
Reduced circulating growth hormone concentration	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Brittle hair	Alati
Reticular hyperpigmentation	Alati
Scaling skin	Alati
Acral ulceration	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Small for gestational age	Mõnikord (5–29%)
Short stature	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Slow heartbeats	Alati
Increased spleen size	Sageli (30–79%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Alati
Muscle ache	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Osteomyelitis leading to amputation due to slow healing fractures	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Weak cry	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MPV17 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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