Ominaisuudet

Geeniin POLG yhdistetyt ominaisuudet

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology yhdistää POLG-geeniin 285 ominaisuutta elimistöjärjestelmittäin: piirteitä, joita esiintyy geenin harvinaisista sairauksista kärsivillä ihmisillä.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Ominaisuus	Kuinka usein sitä esiintyy
Intestinal pseudo-obstruction	Aina
Poor swallowing	Aina
Abdominal bloating	Hyvin usein (80–99%)
Abdominal cramps	Hyvin usein (80–99%)
Abdominal pain	Hyvin usein (80–99%)
Acid reflux	Hyvin usein (80–99%)
Atrophic muscularis propria	Hyvin usein (80–99%)
Diarrhea	Hyvin usein (80–99%)
Feeling full quickly when eating	Hyvin usein (80–99%)
Gastrointestinal dysmotility	Hyvin usein (80–99%)
Increased bowel sounds	Hyvin usein (80–99%)
Nausea	Hyvin usein (80–99%)
Poor appetite	Hyvin usein (80–99%)
Small intestinal dysmotility	Hyvin usein (80–99%)
Vomiting	Hyvin usein (80–99%)
Abnormality of the gastrointestinal tract	Usein (30–79%)
Accumulation of fluid in the abdomen	Usein (30–79%)
Acute liver failure	Usein (30–79%)
Bile duct proliferation	Usein (30–79%)
Colonic diverticula	Usein (30–79%)
Delayed gastric emptying	Usein (30–79%)
Jaundice	Usein (30–79%)
Liver failure	Usein (30–79%)
Micronodular cirrhosis	Usein (30–79%)
Constipation	Joskus (5–29%)
Scar tissue replaces healthy tissue in the liver	Joskus (5–29%)
Abnormality of the liver	Harvinainen (1–4 %)
Enlarged liver	Ei kirjattu
Intermittent diarrhea	Ei kirjattu
Intestinal perforation	Ei kirjattu
Malabsorption	Ei kirjattu
Malnutrition	Ei kirjattu

Abnormality of the eye

Ominaisuus	Kuinka usein sitä esiintyy
Cerebral visual impairment	Aina
Double vision	Aina
Drooping of both upper eyelids	Aina
Drooping upper eyelid	Aina
Inward turning cross eyed	Aina
Progressive external ophthalmoplegia	Aina
Weakness of muscles controlling eye movement	Aina
Paralysis or weakness of muscles within or surrounding outer part of eye	Hyvin usein (80–99%)
Abnormality of eye movement	Usein (30–79%)
Abnormality of the eye	Usein (30–79%)
Abnormality of vision	Usein (30–79%)
Eye muscle paralysis	Usein (30–79%)
Gaze-evoked nystagmus	Usein (30–79%)
Hemianopia	Usein (30–79%)
Involuntary, rapid, rhythmic eye movements	Usein (30–79%)
Optic atrophy	Usein (30–79%)
Total ophthalmoplegia	Usein (30–79%)
Upgaze palsy	Usein (30–79%)
Blindness	Joskus (5–29%)
Clouding of the lens of the eye	Joskus (5–29%)
Color blindness	Joskus (5–29%)
Optic neuritis	Joskus (5–29%)
Retina issue	Joskus (5–29%)
Retinal pigment epithelial mottling	Joskus (5–29%)
Visual impairment	Joskus (5–29%)
Abnormality of visual evoked potentials	Ei kirjattu
Visual loss	Ei kirjattu

Laboratory abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Elevated circulating deoxyuridine concentration	Aina
Elevated circulating thymidine concentration	Aina
Reduced tissue thymidine phosphorylase activity	Aina
Anasarca	Usein (30–79%)
High liver enzymes	Usein (30–79%)
Higher than normal levels of lactate in blood	Usein (30–79%)
Increased blood alanine	Usein (30–79%)
Increased circulating pyruvate concentration	Usein (30–79%)
Increased CSF protein concentration	Usein (30–79%)
Increased lactate in body	Usein (30–79%)
Elevated blood creatine phosphokinase	Joskus (5–29%)
Glucose intolerance	Joskus (5–29%)
Macrovesicular hepatic steatosis	Joskus (5–29%)
Mildly elevated creatine kinase	Joskus (5–29%)
Diabetes mellitus	Harvinainen (1–4 %)
Fluid retention	Harvinainen (1–4 %)
High levels of ketone bodies	Harvinainen (1–4 %)
3-Methylglutaconic aciduria	Ei kirjattu
Acidic urine	Ei kirjattu
Ethylmalonic aciduria	Ei kirjattu
Microvesicular hepatic steatosis	Ei kirjattu

Abnormality of the cardiovascular system

Ominaisuus	Kuinka usein sitä esiintyy
Disease of the heart muscle	Usein (30–79%)
Mitral valve prolapse	Usein (30–79%)
ST segment elevation	Usein (30–79%)
Abnormal heart rate	Joskus (5–29%)
Left ventricular hypertrophy	Joskus (5–29%)
Mitral regurgitation	Joskus (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Joskus (5–29%)
Reduced left ventricular ejection fraction	Joskus (5–29%)
Stretched and thinned heart muscle	Joskus (5–29%)
Ventricular arrhythmia	Joskus (5–29%)
Palpitations	Harvinainen (1–4 %)

Abnormality of limbs

Ominaisuus	Kuinka usein sitä esiintyy
Areflexia of lower limbs	Aina
Abnormality of the hand	Usein (30–79%)
Foot drop	Usein (30–79%)
Limb muscle weakness	Usein (30–79%)
Quadriceps weakness	Usein (30–79%)
Weak shoulder muscles	Usein (30–79%)
Absent ankle reflexes	Joskus (5–29%)
Hand muscle weakness	Joskus (5–29%)
High-arched foot	Joskus (5–29%)
Winged shoulder blade	Joskus (5–29%)

Abnormality of head or neck

Ominaisuus	Kuinka usein sitä esiintyy
Bell's palsy	Aina
Weakness of facial musculature	Aina
Abnormality of the extraocular muscles	Usein (30–79%)
Abnormally small head	Usein (30–79%)
Decreased facial expressions	Usein (30–79%)
Expressionless face	Usein (30–79%)
Movement abnormality of the tongue	Usein (30–79%)
Facial diplegia	Joskus (5–29%)

Abnormal cellular phenotype

Ominaisuus	Kuinka usein sitä esiintyy
Decreased activity of mitochondrial complex I	Aina
Decreased activity of mitochondrial complex IV	Aina
Depletion of mitochondrial DNA in muscle tissue	Aina
Multiple mitochondrial DNA deletions	Aina
Abnormality of the mitochondrion	Usein (30–79%)
Abnormal cell morphology	Joskus (5–29%)

Abnormality of the endocrine system

Ominaisuus	Kuinka usein sitä esiintyy
Hashimoto thyroiditis	Usein (30–79%)
Hypergonadotropic hypogonadism	Joskus (5–29%)
Hypogonadotropic hypogonadism	Joskus (5–29%)
Enlarged thyroid gland in neck	Harvinainen (1–4 %)
Overactive thyroid	Harvinainen (1–4 %)
Underactive thyroid	Harvinainen (1–4 %)

Abnormality of the genitourinary system

Ominaisuus	Kuinka usein sitä esiintyy
Previous menstrual periods stop	Aina
Nocturia	Harvinainen (1–4 %)
Early menopause	Ei kirjattu
Primary amenorrhea	Ei kirjattu
Testicular degeneration	Ei kirjattu

Abnormality of the ear

Ominaisuus	Kuinka usein sitä esiintyy
Sensorineural hearing impairment	Aina
Abnormal vestibular function	Usein (30–79%)
Bilateral sensorineural hearing impairment	Usein (30–79%)
Hearing impairment	Joskus (5–29%)

Abnormality of the respiratory system

Ominaisuus	Kuinka usein sitä esiintyy
Floppy windpipe	Usein (30–79%)
Slow breathing	Usein (30–79%)
Exertional breathlessness	Joskus (5–29%)
Respiratory function loss	Joskus (5–29%)

Constitutional symptom

Ominaisuus	Kuinka usein sitä esiintyy
Allodynia	Aina
Decreased ability to exercise	Aina
Fatigue	Usein (30–79%)
Muscle ache	Joskus (5–29%)

Growth abnormality

Ominaisuus	Kuinka usein sitä esiintyy
Wasting syndrome	Aina
Weight loss	Aina
Faltering weight	Joskus (5–29%)
Slender build	Ei kirjattu

Abnormality of the voice

Ominaisuus	Kuinka usein sitä esiintyy
Nasal speech	Joskus (5–29%)
Weak voice	Joskus (5–29%)
Inability to produce voice sounds	Ei kirjattu

Abnormality of blood and blood-forming tissues

Ominaisuus	Kuinka usein sitä esiintyy
Low number of red blood cells or hemoglobin	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

Human Phenotype Ontology, julkaisu 2026-09-01: POLG-geeniin yhdistetyt ominaisuudet ja kunkin esiintymistiheys. Lisätietoja osoitteesta hpo.jax.org.

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