Požymiai

Su MPV17 susiję požymiai

mitochondrial inner membrane protein MPV17

Žmogaus fenotipo ontologija sieja 180 požymių su MPV17, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Laboratory abnormality

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

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acute liver failure	Visada
Constipation	Visada
Gallstones	Visada
Gastrointestinal dysmotility	Visada
Impaired release of bile from liver	Visada
Increased hepatic echogenicity	Visada
Periportal fibrosis	Visada
Poor suck	Visada
Slowed or blocked flow of bile from liver	Visada
Accumulation of fluid in the abdomen	Dažnai (30–79%)
Acid reflux	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Episodic vomiting	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Jaundice	Dažnai (30–79%)
Liver failure	Dažnai (30–79%)
Scar tissue replaces healthy tissue in the liver	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Abdominal bloating	Kartais (5–29%)
Death of liver cells	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Micronodular cirrhosis	Kartais (5–29%)
Pancreatic inflammation	Kartais (5–29%)
Prolonged yellowing of skin in newborn	Neužfiksuota
Reye syndrome-like episodes	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Ankle weakness	Visada
Appendicular hypotonia	Visada
Decreased lung function due to weak breathing muscles	Visada
Diffuse skeletal muscle wasting	Visada
Distal lower limb amyotrophy	Visada
EMG: myopathic abnormalities	Visada
Generalized decreased muscle tone	Visada
Low muscle tone in trunk	Visada
Muscle flaccidity	Visada
Progressive proximal muscle weakness	Visada
Scoliosis	Visada
Low muscle tone	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Weakness of outermost muscles	Dažnai (30–79%)
Muscle degeneration	Kartais (5–29%)
Progressive muscle weakness	Kartais (5–29%)
Distal muscle wasting	Neužfiksuota
EMG: chronic denervation signs	Neužfiksuota
Increased susceptibility to fractures	Neužfiksuota
Painless fractures due to injury	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Absent ankle reflexes	Visada
Claw toe deformity	Visada
Decreased Achilles reflex	Visada
Dropped arches	Visada
Foot drop	Visada
Hammertoe	Visada
Intrinsic hand muscle atrophy	Visada
Left and right leg differ in length or width	Visada
Unequal size of arms	Visada
Weakness of the intrinsic hand muscles	Visada
Lower limb muscle weakness	Labai dažnai (80–99%)
Autoamputation of digits	Neužfiksuota
High-arched foot	Neužfiksuota
Ulnar claw	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Breakdown of light-sensitive cells in back of eye	Visada
Drooping upper eyelid	Visada
Pigmentary retinopathy	Visada
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Corneal scarring	Dažnai (30–79%)
Corneal ulceration	Dažnai (30–79%)
Weakness of muscles controlling eye movement	Dažnai (30–79%)
Horizontal nystagmus	Kartais (5–29%)
Recurrent breakdown of clear protective layer of eye	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex III	Visada
Depletion of mitochondrial DNA in liver	Visada
Mitochondrial depletion	Visada
Multiple mitochondrial DNA deletions	Visada
Decreased activity of mitochondrial complex I	Dažnai (30–79%)
Decreased activity of mitochondrial complex IV	Dažnai (30–79%)
Depletion of mitochondrial DNA in muscle tissue	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Global proximal tubulopathy	Visada
Kidney stone	Visada
Previous menstrual periods stop	Visada
Proximal tubulopathy	Dažnai (30–79%)
Increased calcium level in kidney	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Hypofibrinogenemia	Visada
Prolonged partial thromboplastin time	Visada
Prolonged prothrombin time	Labai dažnai (80–99%)
Abnormality of the coagulation cascade	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased parathyroid hormone secretion	Kartais (5–29%)
Low blood cortisol level	Kartais (5–29%)
Reduced circulating growth hormone concentration	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Brittle hair	Visada
Reticular hyperpigmentation	Visada
Scaling skin	Visada
Acral ulceration	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Small for gestational age	Kartais (5–29%)
Short stature	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Slow heartbeats	Visada
Increased spleen size	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Visada
Muscle ache	Visada

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Visada

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Osteomyelitis leading to amputation due to slow healing fractures	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak cry	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su MPV17 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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