Kjennetegn

Kjennetegn knyttet til POLG

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology knytter 285 kjennetegn til POLG, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

POLG

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Ataxia	Alltid
Babinski sign	Alltid
Degeneration of cerebellum	Alltid
Degeneration of cerebrum	Alltid
Difficulty articulating speech	Alltid
Dystonia	Alltid
Inability to coordinate movements when walking	Alltid
Instability or lack of coordination of central trunk muscles	Alltid
Intention tremor	Alltid
Nerve damage causing decreased feeling and movement	Alltid
Numbness	Alltid
Parkinsonism	Alltid
Peripheral neuropathy	Alltid
Sensory ataxic neuropathy	Alltid
Slow movements	Alltid
Absent reflexes	Svært ofte (80–99 %)
Leukoencephalopathy	Svært 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	Noen ganger (5–29 %)
Abnormality of extrapyramidal motor function	Noen ganger (5–29 %)
Action tremor	Noen ganger (5–29 %)
Can't control feelings	Noen ganger (5–29 %)
Decreased muscle movement	Noen ganger (5–29 %)
Decreased sensation in extremities	Noen ganger (5–29 %)
Dementia	Noen ganger (5–29 %)
Focal white matter lesions	Noen ganger (5–29 %)
Intellectual disability	Noen ganger (5–29 %)
Lethargy	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Parkinsonism with favorable response to dopaminergic medication	Noen ganger (5–29 %)
Sensory ataxia	Noen ganger (5–29 %)
Shuffled walk	Noen ganger (5–29 %)
Stooped posture	Noen ganger (5–29 %)
Twitching	Noen ganger (5–29 %)
Bipolar disorder	Sjelden (1–4%)
Astrocytosis	Ikke registrert
Cerebral cortical neurodegeneration	Ikke registrert
Decreased touch sensation in extremities	Ikke registrert
High stepping	Ikke registrert
Hypointensity of cerebral white matter on MRI	Ikke registrert
Limb ataxia	Ikke registrert
Loss of brain cells	Ikke registrert
Paralysis	Ikke registrert
Poor concentration	Ikke registrert
Progressive gait ataxia	Ikke registrert
Wide based walk	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Cytochrome C oxidase-negative muscle fibers	Alltid
Difficulty walking up stairs	Alltid
Increased variability in muscle fiber diameter	Alltid
Muscle fiber degeneration	Alltid
Muscle weakness	Alltid
Proximal neurogenic muscle weakness	Alltid
Ragged-red muscle fibers	Alltid
Scoliosis	Alltid
Weakness of outermost muscles	Alltid
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	Noen ganger (5–29 %)
Cogwheel rigidity	Noen ganger (5–29 %)
Decreased muscle mass	Noen ganger (5–29 %)
Diffuse skeletal muscle wasting	Noen ganger (5–29 %)
Frequent falls	Noen ganger (5–29 %)
Muscle degeneration	Noen ganger (5–29 %)
Muscle stiffness	Noen ganger (5–29 %)
Rigidity	Noen ganger (5–29 %)
Muscle spasm	Sjelden (1–4%)
Breakdown of skeletal muscle	Ikke registrert
Decreased lung function due to weak breathing muscles	Ikke registrert
Distal muscle wasting	Ikke registrert
Generalized muscle weakness	Ikke registrert
Muscle fiber necrosis	Ikke registrert
Progressive muscle weakness	Ikke registrert
Subsarcolemmal accumulations of abnormally shaped mitochondria	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Intestinal pseudo-obstruction	Alltid
Poor swallowing	Alltid
Abdominal bloating	Svært ofte (80–99 %)
Abdominal cramps	Svært ofte (80–99 %)
Abdominal pain	Svært ofte (80–99 %)
Acid reflux	Svært ofte (80–99 %)
Atrophic muscularis propria	Svært ofte (80–99 %)
Diarrhea	Svært ofte (80–99 %)
Feeling full quickly when eating	Svært ofte (80–99 %)
Gastrointestinal dysmotility	Svært ofte (80–99 %)
Increased bowel sounds	Svært ofte (80–99 %)
Nausea	Svært ofte (80–99 %)
Poor appetite	Svært ofte (80–99 %)
Small intestinal dysmotility	Svært ofte (80–99 %)
Vomiting	Svært 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	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)
Abnormality of the liver	Sjelden (1–4%)
Enlarged liver	Ikke registrert
Intermittent diarrhea	Ikke registrert
Intestinal perforation	Ikke registrert
Malabsorption	Ikke registrert
Malnutrition	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Cerebral visual impairment	Alltid
Double vision	Alltid
Drooping of both upper eyelids	Alltid
Drooping upper eyelid	Alltid
Inward turning cross eyed	Alltid
Progressive external ophthalmoplegia	Alltid
Weakness of muscles controlling eye movement	Alltid
Paralysis or weakness of muscles within or surrounding outer part of eye	Svært 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	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Color blindness	Noen ganger (5–29 %)
Optic neuritis	Noen ganger (5–29 %)
Retina issue	Noen ganger (5–29 %)
Retinal pigment epithelial mottling	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Abnormality of visual evoked potentials	Ikke registrert
Visual loss	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated circulating deoxyuridine concentration	Alltid
Elevated circulating thymidine concentration	Alltid
Reduced tissue thymidine phosphorylase activity	Alltid
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	Noen ganger (5–29 %)
Glucose intolerance	Noen ganger (5–29 %)
Macrovesicular hepatic steatosis	Noen ganger (5–29 %)
Mildly elevated creatine kinase	Noen ganger (5–29 %)
Diabetes mellitus	Sjelden (1–4%)
Fluid retention	Sjelden (1–4%)
High levels of ketone bodies	Sjelden (1–4%)
3-Methylglutaconic aciduria	Ikke registrert
Acidic urine	Ikke registrert
Ethylmalonic aciduria	Ikke registrert
Microvesicular hepatic steatosis	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Disease of the heart muscle	Ofte (30–79 %)
Mitral valve prolapse	Ofte (30–79 %)
ST segment elevation	Ofte (30–79 %)
Abnormal heart rate	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Noen ganger (5–29 %)
Reduced left ventricular ejection fraction	Noen ganger (5–29 %)
Stretched and thinned heart muscle	Noen ganger (5–29 %)
Ventricular arrhythmia	Noen ganger (5–29 %)
Palpitations	Sjelden (1–4%)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Areflexia of lower limbs	Alltid
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	Noen ganger (5–29 %)
Hand muscle weakness	Noen ganger (5–29 %)
High-arched foot	Noen ganger (5–29 %)
Winged shoulder blade	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Bell's palsy	Alltid
Weakness of facial musculature	Alltid
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	Noen ganger (5–29 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased activity of mitochondrial complex I	Alltid
Decreased activity of mitochondrial complex IV	Alltid
Depletion of mitochondrial DNA in muscle tissue	Alltid
Multiple mitochondrial DNA deletions	Alltid
Abnormality of the mitochondrion	Ofte (30–79 %)
Abnormal cell morphology	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Hashimoto thyroiditis	Ofte (30–79 %)
Hypergonadotropic hypogonadism	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Noen ganger (5–29 %)
Enlarged thyroid gland in neck	Sjelden (1–4%)
Overactive thyroid	Sjelden (1–4%)
Underactive thyroid	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Previous menstrual periods stop	Alltid
Nocturia	Sjelden (1–4%)
Early menopause	Ikke registrert
Primary amenorrhea	Ikke registrert
Testicular degeneration	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Alltid
Abnormal vestibular function	Ofte (30–79 %)
Bilateral sensorineural hearing impairment	Ofte (30–79 %)
Hearing impairment	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Floppy windpipe	Ofte (30–79 %)
Slow breathing	Ofte (30–79 %)
Exertional breathlessness	Noen ganger (5–29 %)
Respiratory function loss	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Allodynia	Alltid
Decreased ability to exercise	Alltid
Fatigue	Ofte (30–79 %)
Muscle ache	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Wasting syndrome	Alltid
Weight loss	Alltid
Faltering weight	Noen ganger (5–29 %)
Slender build	Ikke registrert

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Nasal speech	Noen ganger (5–29 %)
Weak voice	Noen ganger (5–29 %)
Inability to produce voice sounds	Ikke registrert

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til POLG og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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