Egenskaber

Egenskaber knyttet til POLG

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology knytter 285 egenskaber til POLG, opdelt efter kropssystem: træk, der ses hos personer med en af genets sjældne sygdomme.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Egenskab	Hvor ofte det ses
Intestinal pseudo-obstruction	Altid
Poor swallowing	Altid
Abdominal bloating	Meget ofte (80–99 %)
Abdominal cramps	Meget ofte (80–99 %)
Abdominal pain	Meget ofte (80–99 %)
Acid reflux	Meget ofte (80–99 %)
Atrophic muscularis propria	Meget ofte (80–99 %)
Diarrhea	Meget ofte (80–99 %)
Feeling full quickly when eating	Meget ofte (80–99 %)
Gastrointestinal dysmotility	Meget ofte (80–99 %)
Increased bowel sounds	Meget ofte (80–99 %)
Nausea	Meget ofte (80–99 %)
Poor appetite	Meget ofte (80–99 %)
Small intestinal dysmotility	Meget ofte (80–99 %)
Vomiting	Meget ofte (80–99 %)
Abnormality of the gastrointestinal tract	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Ofte (30–79 %)
Acute liver failure	Ofte (30–79 %)
Bile duct proliferation	Ofte (30–79 %)
Colonic diverticula	Ofte (30–79 %)
Delayed gastric emptying	Ofte (30–79 %)
Jaundice	Ofte (30–79 %)
Liver failure	Ofte (30–79 %)
Micronodular cirrhosis	Ofte (30–79 %)
Constipation	Nogle gange (5–29 %)
Scar tissue replaces healthy tissue in the liver	Nogle gange (5–29 %)
Abnormality of the liver	Sjældent (1–4%)
Enlarged liver	Ikke registreret
Intermittent diarrhea	Ikke registreret
Intestinal perforation	Ikke registreret
Malabsorption	Ikke registreret
Malnutrition	Ikke registreret

Abnormality of the eye

Egenskab	Hvor ofte det ses
Cerebral visual impairment	Altid
Double vision	Altid
Drooping of both upper eyelids	Altid
Drooping upper eyelid	Altid
Inward turning cross eyed	Altid
Progressive external ophthalmoplegia	Altid
Weakness of muscles controlling eye movement	Altid
Paralysis or weakness of muscles within or surrounding outer part of eye	Meget ofte (80–99 %)
Abnormality of eye movement	Ofte (30–79 %)
Abnormality of the eye	Ofte (30–79 %)
Abnormality of vision	Ofte (30–79 %)
Eye muscle paralysis	Ofte (30–79 %)
Gaze-evoked nystagmus	Ofte (30–79 %)
Hemianopia	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Total ophthalmoplegia	Ofte (30–79 %)
Upgaze palsy	Ofte (30–79 %)
Blindness	Nogle gange (5–29 %)
Clouding of the lens of the eye	Nogle gange (5–29 %)
Color blindness	Nogle gange (5–29 %)
Optic neuritis	Nogle gange (5–29 %)
Retina issue	Nogle gange (5–29 %)
Retinal pigment epithelial mottling	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)
Abnormality of visual evoked potentials	Ikke registreret
Visual loss	Ikke registreret

Laboratory abnormality

Egenskab	Hvor ofte det ses
Elevated circulating deoxyuridine concentration	Altid
Elevated circulating thymidine concentration	Altid
Reduced tissue thymidine phosphorylase activity	Altid
Anasarca	Ofte (30–79 %)
High liver enzymes	Ofte (30–79 %)
Higher than normal levels of lactate in blood	Ofte (30–79 %)
Increased blood alanine	Ofte (30–79 %)
Increased circulating pyruvate concentration	Ofte (30–79 %)
Increased CSF protein concentration	Ofte (30–79 %)
Increased lactate in body	Ofte (30–79 %)
Elevated blood creatine phosphokinase	Nogle gange (5–29 %)
Glucose intolerance	Nogle gange (5–29 %)
Macrovesicular hepatic steatosis	Nogle gange (5–29 %)
Mildly elevated creatine kinase	Nogle gange (5–29 %)
Diabetes mellitus	Sjældent (1–4%)
Fluid retention	Sjældent (1–4%)
High levels of ketone bodies	Sjældent (1–4%)
3-Methylglutaconic aciduria	Ikke registreret
Acidic urine	Ikke registreret
Ethylmalonic aciduria	Ikke registreret
Microvesicular hepatic steatosis	Ikke registreret

Abnormality of the cardiovascular system

Egenskab	Hvor ofte det ses
Disease of the heart muscle	Ofte (30–79 %)
Mitral valve prolapse	Ofte (30–79 %)
ST segment elevation	Ofte (30–79 %)
Abnormal heart rate	Nogle gange (5–29 %)
Left ventricular hypertrophy	Nogle gange (5–29 %)
Mitral regurgitation	Nogle gange (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Nogle gange (5–29 %)
Reduced left ventricular ejection fraction	Nogle gange (5–29 %)
Stretched and thinned heart muscle	Nogle gange (5–29 %)
Ventricular arrhythmia	Nogle gange (5–29 %)
Palpitations	Sjældent (1–4%)

Abnormality of limbs

Egenskab	Hvor ofte det ses
Areflexia of lower limbs	Altid
Abnormality of the hand	Ofte (30–79 %)
Foot drop	Ofte (30–79 %)
Limb muscle weakness	Ofte (30–79 %)
Quadriceps weakness	Ofte (30–79 %)
Weak shoulder muscles	Ofte (30–79 %)
Absent ankle reflexes	Nogle gange (5–29 %)
Hand muscle weakness	Nogle gange (5–29 %)
High-arched foot	Nogle gange (5–29 %)
Winged shoulder blade	Nogle gange (5–29 %)

Abnormality of head or neck

Egenskab	Hvor ofte det ses
Bell's palsy	Altid
Weakness of facial musculature	Altid
Abnormality of the extraocular muscles	Ofte (30–79 %)
Abnormally small head	Ofte (30–79 %)
Decreased facial expressions	Ofte (30–79 %)
Expressionless face	Ofte (30–79 %)
Movement abnormality of the tongue	Ofte (30–79 %)
Facial diplegia	Nogle gange (5–29 %)

Abnormal cellular phenotype

Egenskab	Hvor ofte det ses
Decreased activity of mitochondrial complex I	Altid
Decreased activity of mitochondrial complex IV	Altid
Depletion of mitochondrial DNA in muscle tissue	Altid
Multiple mitochondrial DNA deletions	Altid
Abnormality of the mitochondrion	Ofte (30–79 %)
Abnormal cell morphology	Nogle gange (5–29 %)

Abnormality of the endocrine system

Egenskab	Hvor ofte det ses
Hashimoto thyroiditis	Ofte (30–79 %)
Hypergonadotropic hypogonadism	Nogle gange (5–29 %)
Hypogonadotropic hypogonadism	Nogle gange (5–29 %)
Enlarged thyroid gland in neck	Sjældent (1–4%)
Overactive thyroid	Sjældent (1–4%)
Underactive thyroid	Sjældent (1–4%)

Abnormality of the genitourinary system

Egenskab	Hvor ofte det ses
Previous menstrual periods stop	Altid
Nocturia	Sjældent (1–4%)
Early menopause	Ikke registreret
Primary amenorrhea	Ikke registreret
Testicular degeneration	Ikke registreret

Abnormality of the ear

Egenskab	Hvor ofte det ses
Sensorineural hearing impairment	Altid
Abnormal vestibular function	Ofte (30–79 %)
Bilateral sensorineural hearing impairment	Ofte (30–79 %)
Hearing impairment	Nogle gange (5–29 %)

Abnormality of the respiratory system

Egenskab	Hvor ofte det ses
Floppy windpipe	Ofte (30–79 %)
Slow breathing	Ofte (30–79 %)
Exertional breathlessness	Nogle gange (5–29 %)
Respiratory function loss	Nogle gange (5–29 %)

Constitutional symptom

Egenskab	Hvor ofte det ses
Allodynia	Altid
Decreased ability to exercise	Altid
Fatigue	Ofte (30–79 %)
Muscle ache	Nogle gange (5–29 %)

Growth abnormality

Egenskab	Hvor ofte det ses
Wasting syndrome	Altid
Weight loss	Altid
Faltering weight	Nogle gange (5–29 %)
Slender build	Ikke registreret

Abnormality of the voice

Egenskab	Hvor ofte det ses
Nasal speech	Nogle gange (5–29 %)
Weak voice	Nogle gange (5–29 %)
Inability to produce voice sounds	Ikke registreret

Abnormality of blood and blood-forming tissues

Egenskab	Hvor ofte det ses
Low number of red blood cells or hemoglobin	Nogle gange (5–29 %)

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 POLG og hvor ofte hver enkelt ses. Læs mere på hpo.jax.org.

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