Požymiai

Su POLG susiję požymiai

DNA polymerase gamma, catalytic subunit

Žmogaus fenotipo ontologija sieja 285 požymių su POLG, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

POLG

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Ataxia	Visada
Babinski sign	Visada
Degeneration of cerebellum	Visada
Degeneration of cerebrum	Visada
Difficulty articulating speech	Visada
Dystonia	Visada
Inability to coordinate movements when walking	Visada
Instability or lack of coordination of central trunk muscles	Visada
Intention tremor	Visada
Nerve damage causing decreased feeling and movement	Visada
Numbness	Visada
Parkinsonism	Visada
Peripheral neuropathy	Visada
Sensory ataxic neuropathy	Visada
Slow movements	Visada
Absent reflexes	Labai dažnai (80–99%)
Leukoencephalopathy	Labai dažnai (80–99%)
Abnormal cerebellar cortex morphology	Dažnai (30–79%)
Abnormal cerebral white matter morphology	Dažnai (30–79%)
Abnormal gait	Dažnai (30–79%)
Abnormal thalamic MRI signal intensity	Dažnai (30–79%)
Abnormality of central motor conduction	Dažnai (30–79%)
Abnormality of movement	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Atrophy/Degeneration involving the spinal cord	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Bilateral tonic-clonic seizure with focal onset	Dažnai (30–79%)
Cerebral infarct	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Coma	Dažnai (30–79%)
Decreased motor nerve conduction velocity	Dažnai (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Decreased sensory nerve conduction velocity	Dažnai (30–79%)
Demyelinating peripheral neuropathy	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Difficulty performing quick and alternating movements	Dažnai (30–79%)
EEG with occipital epileptiform discharges	Dažnai (30–79%)
Encephalopathy	Dažnai (30–79%)
Epilepsia partialis continua	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Focal myoclonic seizure	Dažnai (30–79%)
Focal T2 hyperintense thalamic lesion	Dažnai (30–79%)
Generalized non-convulsive status epilepticus without coma	Dažnai (30–79%)
Gliosis	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Hand tremor	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Impaired distal proprioception	Dažnai (30–79%)
Impaired distal vibration sensation	Dažnai (30–79%)
Impaired vibratory sensation	Dažnai (30–79%)
Jerking	Dažnai (30–79%)
Lack of coordination of movement	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Partial paralysis of legs	Dažnai (30–79%)
Peripheral axonal neuropathy	Dažnai (30–79%)
Pins and needles feeling	Dažnai (30–79%)
Positive Romberg sign	Dažnai (30–79%)
Progressive brain disease	Dažnai (30–79%)
Progressive cerebellar ataxia	Dažnai (30–79%)
Repeated seizures without recovery between them	Dažnai (30–79%)
Resting tremor	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Sensory axonal neuropathy	Dažnai (30–79%)
Slurred speech	Dažnai (30–79%)
Tetraparesis	Dažnai (30–79%)
Tremor	Dažnai (30–79%)
Uncoordinated limb movement	Dažnai (30–79%)
Vegetative state	Dažnai (30–79%)
Worsening neurological symptoms	Dažnai (30–79%)
Abnormal cerebrospinal fluid morphology	Kartais (5–29%)
Abnormality of extrapyramidal motor function	Kartais (5–29%)
Action tremor	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Decreased muscle movement	Kartais (5–29%)
Decreased sensation in extremities	Kartais (5–29%)
Dementia	Kartais (5–29%)
Focal white matter lesions	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Parkinsonism with favorable response to dopaminergic medication	Kartais (5–29%)
Sensory ataxia	Kartais (5–29%)
Shuffled walk	Kartais (5–29%)
Stooped posture	Kartais (5–29%)
Twitching	Kartais (5–29%)
Bipolar disorder	Retai (1–4 %)
Astrocytosis	Neužfiksuota
Cerebral cortical neurodegeneration	Neužfiksuota
Decreased touch sensation in extremities	Neužfiksuota
High stepping	Neužfiksuota
Hypointensity of cerebral white matter on MRI	Neužfiksuota
Limb ataxia	Neužfiksuota
Loss of brain cells	Neužfiksuota
Paralysis	Neužfiksuota
Poor concentration	Neužfiksuota
Progressive gait ataxia	Neužfiksuota
Wide based walk	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Cytochrome C oxidase-negative muscle fibers	Visada
Difficulty walking up stairs	Visada
Increased variability in muscle fiber diameter	Visada
Muscle fiber degeneration	Visada
Muscle weakness	Visada
Proximal neurogenic muscle weakness	Visada
Ragged-red muscle fibers	Visada
Scoliosis	Visada
Weakness of outermost muscles	Visada
EMG: myopathic abnormalities	Dažnai (30–79%)
Fiber type grouping	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Mitochondrial myopathy	Dažnai (30–79%)
Muscle tissue disease	Dažnai (30–79%)
Neck flexion weakness	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Progressive spasticity	Dažnai (30–79%)
Spastic paraparesis	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Centrally nucleated skeletal muscle fibers	Kartais (5–29%)
Cogwheel rigidity	Kartais (5–29%)
Decreased muscle mass	Kartais (5–29%)
Diffuse skeletal muscle wasting	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Muscle stiffness	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Muscle spasm	Retai (1–4 %)
Breakdown of skeletal muscle	Neužfiksuota
Decreased lung function due to weak breathing muscles	Neužfiksuota
Distal muscle wasting	Neužfiksuota
Generalized muscle weakness	Neužfiksuota
Muscle fiber necrosis	Neužfiksuota
Progressive muscle weakness	Neužfiksuota
Subsarcolemmal accumulations of abnormally shaped mitochondria	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Intestinal pseudo-obstruction	Visada
Poor swallowing	Visada
Abdominal bloating	Labai dažnai (80–99%)
Abdominal cramps	Labai dažnai (80–99%)
Abdominal pain	Labai dažnai (80–99%)
Acid reflux	Labai dažnai (80–99%)
Atrophic muscularis propria	Labai dažnai (80–99%)
Diarrhea	Labai dažnai (80–99%)
Feeling full quickly when eating	Labai dažnai (80–99%)
Gastrointestinal dysmotility	Labai dažnai (80–99%)
Increased bowel sounds	Labai dažnai (80–99%)
Nausea	Labai dažnai (80–99%)
Poor appetite	Labai dažnai (80–99%)
Small intestinal dysmotility	Labai dažnai (80–99%)
Vomiting	Labai dažnai (80–99%)
Abnormality of the gastrointestinal tract	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Dažnai (30–79%)
Acute liver failure	Dažnai (30–79%)
Bile duct proliferation	Dažnai (30–79%)
Colonic diverticula	Dažnai (30–79%)
Delayed gastric emptying	Dažnai (30–79%)
Jaundice	Dažnai (30–79%)
Liver failure	Dažnai (30–79%)
Micronodular cirrhosis	Dažnai (30–79%)
Constipation	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Abnormality of the liver	Retai (1–4 %)
Enlarged liver	Neužfiksuota
Intermittent diarrhea	Neužfiksuota
Intestinal perforation	Neužfiksuota
Malabsorption	Neužfiksuota
Malnutrition	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cerebral visual impairment	Visada
Double vision	Visada
Drooping of both upper eyelids	Visada
Drooping upper eyelid	Visada
Inward turning cross eyed	Visada
Progressive external ophthalmoplegia	Visada
Weakness of muscles controlling eye movement	Visada
Paralysis or weakness of muscles within or surrounding outer part of eye	Labai dažnai (80–99%)
Abnormality of eye movement	Dažnai (30–79%)
Abnormality of the eye	Dažnai (30–79%)
Abnormality of vision	Dažnai (30–79%)
Eye muscle paralysis	Dažnai (30–79%)
Gaze-evoked nystagmus	Dažnai (30–79%)
Hemianopia	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Total ophthalmoplegia	Dažnai (30–79%)
Upgaze palsy	Dažnai (30–79%)
Blindness	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Color blindness	Kartais (5–29%)
Optic neuritis	Kartais (5–29%)
Retina issue	Kartais (5–29%)
Retinal pigment epithelial mottling	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Abnormality of visual evoked potentials	Neužfiksuota
Visual loss	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated circulating deoxyuridine concentration	Visada
Elevated circulating thymidine concentration	Visada
Reduced tissue thymidine phosphorylase activity	Visada
Anasarca	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Higher than normal levels of lactate in blood	Dažnai (30–79%)
Increased blood alanine	Dažnai (30–79%)
Increased circulating pyruvate concentration	Dažnai (30–79%)
Increased CSF protein concentration	Dažnai (30–79%)
Increased lactate in body	Dažnai (30–79%)
Elevated blood creatine phosphokinase	Kartais (5–29%)
Glucose intolerance	Kartais (5–29%)
Macrovesicular hepatic steatosis	Kartais (5–29%)
Mildly elevated creatine kinase	Kartais (5–29%)
Diabetes mellitus	Retai (1–4 %)
Fluid retention	Retai (1–4 %)
High levels of ketone bodies	Retai (1–4 %)
3-Methylglutaconic aciduria	Neužfiksuota
Acidic urine	Neužfiksuota
Ethylmalonic aciduria	Neužfiksuota
Microvesicular hepatic steatosis	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Disease of the heart muscle	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
ST segment elevation	Dažnai (30–79%)
Abnormal heart rate	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Kartais (5–29%)
Reduced left ventricular ejection fraction	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Ventricular arrhythmia	Kartais (5–29%)
Palpitations	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Areflexia of lower limbs	Visada
Abnormality of the hand	Dažnai (30–79%)
Foot drop	Dažnai (30–79%)
Limb muscle weakness	Dažnai (30–79%)
Quadriceps weakness	Dažnai (30–79%)
Weak shoulder muscles	Dažnai (30–79%)
Absent ankle reflexes	Kartais (5–29%)
Hand muscle weakness	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Bell's palsy	Visada
Weakness of facial musculature	Visada
Abnormality of the extraocular muscles	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Decreased facial expressions	Dažnai (30–79%)
Expressionless face	Dažnai (30–79%)
Movement abnormality of the tongue	Dažnai (30–79%)
Facial diplegia	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex I	Visada
Decreased activity of mitochondrial complex IV	Visada
Depletion of mitochondrial DNA in muscle tissue	Visada
Multiple mitochondrial DNA deletions	Visada
Abnormality of the mitochondrion	Dažnai (30–79%)
Abnormal cell morphology	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Hashimoto thyroiditis	Dažnai (30–79%)
Hypergonadotropic hypogonadism	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Enlarged thyroid gland in neck	Retai (1–4 %)
Overactive thyroid	Retai (1–4 %)
Underactive thyroid	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Previous menstrual periods stop	Visada
Nocturia	Retai (1–4 %)
Early menopause	Neužfiksuota
Primary amenorrhea	Neužfiksuota
Testicular degeneration	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Abnormal vestibular function	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Floppy windpipe	Dažnai (30–79%)
Slow breathing	Dažnai (30–79%)
Exertional breathlessness	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Allodynia	Visada
Decreased ability to exercise	Visada
Fatigue	Dažnai (30–79%)
Muscle ache	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Wasting syndrome	Visada
Weight loss	Visada
Faltering weight	Kartais (5–29%)
Slender build	Neužfiksuota

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Nasal speech	Kartais (5–29%)
Weak voice	Kartais (5–29%)
Inability to produce voice sounds	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)

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 POLG susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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