Egenskaper

Egenskaper kopplade till POLG

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology kopplar 285 egenskaper till POLG, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
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	Ofta (30–79 %)
Fiber type grouping	Ofta (30–79 %)
Generalized decreased muscle tone	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Mitochondrial myopathy	Ofta (30–79 %)
Muscle tissue disease	Ofta (30–79 %)
Neck flexion weakness	Ofta (30–79 %)
Osteoporosis	Ofta (30–79 %)
Progressive spasticity	Ofta (30–79 %)
Spastic paraparesis	Ofta (30–79 %)
Spasticity and rigidity of muscles	Ofta (30–79 %)
Tired easily	Ofta (30–79 %)
Centrally nucleated skeletal muscle fibers	Ibland (5–29 %)
Cogwheel rigidity	Ibland (5–29 %)
Decreased muscle mass	Ibland (5–29 %)
Diffuse skeletal muscle wasting	Ibland (5–29 %)
Frequent falls	Ibland (5–29 %)
Muscle degeneration	Ibland (5–29 %)
Muscle stiffness	Ibland (5–29 %)
Rigidity	Ibland (5–29 %)
Muscle spasm	Sällan (1–4%)
Breakdown of skeletal muscle	Inte registrerat
Decreased lung function due to weak breathing muscles	Inte registrerat
Distal muscle wasting	Inte registrerat
Generalized muscle weakness	Inte registrerat
Muscle fiber necrosis	Inte registrerat
Progressive muscle weakness	Inte registrerat
Subsarcolemmal accumulations of abnormally shaped mitochondria	Inte registrerat

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Intestinal pseudo-obstruction	Alltid
Poor swallowing	Alltid
Abdominal bloating	Mycket ofta (80–99 %)
Abdominal cramps	Mycket ofta (80–99 %)
Abdominal pain	Mycket ofta (80–99 %)
Acid reflux	Mycket ofta (80–99 %)
Atrophic muscularis propria	Mycket ofta (80–99 %)
Diarrhea	Mycket ofta (80–99 %)
Feeling full quickly when eating	Mycket ofta (80–99 %)
Gastrointestinal dysmotility	Mycket ofta (80–99 %)
Increased bowel sounds	Mycket ofta (80–99 %)
Nausea	Mycket ofta (80–99 %)
Poor appetite	Mycket ofta (80–99 %)
Small intestinal dysmotility	Mycket ofta (80–99 %)
Vomiting	Mycket ofta (80–99 %)
Abnormality of the gastrointestinal tract	Ofta (30–79 %)
Accumulation of fluid in the abdomen	Ofta (30–79 %)
Acute liver failure	Ofta (30–79 %)
Bile duct proliferation	Ofta (30–79 %)
Colonic diverticula	Ofta (30–79 %)
Delayed gastric emptying	Ofta (30–79 %)
Jaundice	Ofta (30–79 %)
Liver failure	Ofta (30–79 %)
Micronodular cirrhosis	Ofta (30–79 %)
Constipation	Ibland (5–29 %)
Scar tissue replaces healthy tissue in the liver	Ibland (5–29 %)
Abnormality of the liver	Sällan (1–4%)
Enlarged liver	Inte registrerat
Intermittent diarrhea	Inte registrerat
Intestinal perforation	Inte registrerat
Malabsorption	Inte registrerat
Malnutrition	Inte registrerat

Abnormality of the eye

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Abnormality of eye movement	Ofta (30–79 %)
Abnormality of the eye	Ofta (30–79 %)
Abnormality of vision	Ofta (30–79 %)
Eye muscle paralysis	Ofta (30–79 %)
Gaze-evoked nystagmus	Ofta (30–79 %)
Hemianopia	Ofta (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofta (30–79 %)
Optic atrophy	Ofta (30–79 %)
Total ophthalmoplegia	Ofta (30–79 %)
Upgaze palsy	Ofta (30–79 %)
Blindness	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Color blindness	Ibland (5–29 %)
Optic neuritis	Ibland (5–29 %)
Retina issue	Ibland (5–29 %)
Retinal pigment epithelial mottling	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Abnormality of visual evoked potentials	Inte registrerat
Visual loss	Inte registrerat

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Elevated circulating deoxyuridine concentration	Alltid
Elevated circulating thymidine concentration	Alltid
Reduced tissue thymidine phosphorylase activity	Alltid
Anasarca	Ofta (30–79 %)
High liver enzymes	Ofta (30–79 %)
Higher than normal levels of lactate in blood	Ofta (30–79 %)
Increased blood alanine	Ofta (30–79 %)
Increased circulating pyruvate concentration	Ofta (30–79 %)
Increased CSF protein concentration	Ofta (30–79 %)
Increased lactate in body	Ofta (30–79 %)
Elevated blood creatine phosphokinase	Ibland (5–29 %)
Glucose intolerance	Ibland (5–29 %)
Macrovesicular hepatic steatosis	Ibland (5–29 %)
Mildly elevated creatine kinase	Ibland (5–29 %)
Diabetes mellitus	Sällan (1–4%)
Fluid retention	Sällan (1–4%)
High levels of ketone bodies	Sällan (1–4%)
3-Methylglutaconic aciduria	Inte registrerat
Acidic urine	Inte registrerat
Ethylmalonic aciduria	Inte registrerat
Microvesicular hepatic steatosis	Inte registrerat

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Disease of the heart muscle	Ofta (30–79 %)
Mitral valve prolapse	Ofta (30–79 %)
ST segment elevation	Ofta (30–79 %)
Abnormal heart rate	Ibland (5–29 %)
Left ventricular hypertrophy	Ibland (5–29 %)
Mitral regurgitation	Ibland (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Ibland (5–29 %)
Reduced left ventricular ejection fraction	Ibland (5–29 %)
Stretched and thinned heart muscle	Ibland (5–29 %)
Ventricular arrhythmia	Ibland (5–29 %)
Palpitations	Sällan (1–4%)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Areflexia of lower limbs	Alltid
Abnormality of the hand	Ofta (30–79 %)
Foot drop	Ofta (30–79 %)
Limb muscle weakness	Ofta (30–79 %)
Quadriceps weakness	Ofta (30–79 %)
Weak shoulder muscles	Ofta (30–79 %)
Absent ankle reflexes	Ibland (5–29 %)
Hand muscle weakness	Ibland (5–29 %)
High-arched foot	Ibland (5–29 %)
Winged shoulder blade	Ibland (5–29 %)

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Bell's palsy	Alltid
Weakness of facial musculature	Alltid
Abnormality of the extraocular muscles	Ofta (30–79 %)
Abnormally small head	Ofta (30–79 %)
Decreased facial expressions	Ofta (30–79 %)
Expressionless face	Ofta (30–79 %)
Movement abnormality of the tongue	Ofta (30–79 %)
Facial diplegia	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
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	Ofta (30–79 %)
Abnormal cell morphology	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Hashimoto thyroiditis	Ofta (30–79 %)
Hypergonadotropic hypogonadism	Ibland (5–29 %)
Hypogonadotropic hypogonadism	Ibland (5–29 %)
Enlarged thyroid gland in neck	Sällan (1–4%)
Overactive thyroid	Sällan (1–4%)
Underactive thyroid	Sällan (1–4%)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Previous menstrual periods stop	Alltid
Nocturia	Sällan (1–4%)
Early menopause	Inte registrerat
Primary amenorrhea	Inte registrerat
Testicular degeneration	Inte registrerat

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Sensorineural hearing impairment	Alltid
Abnormal vestibular function	Ofta (30–79 %)
Bilateral sensorineural hearing impairment	Ofta (30–79 %)
Hearing impairment	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Floppy windpipe	Ofta (30–79 %)
Slow breathing	Ofta (30–79 %)
Exertional breathlessness	Ibland (5–29 %)
Respiratory function loss	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Allodynia	Alltid
Decreased ability to exercise	Alltid
Fatigue	Ofta (30–79 %)
Muscle ache	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Wasting syndrome	Alltid
Weight loss	Alltid
Faltering weight	Ibland (5–29 %)
Slender build	Inte registrerat

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Nasal speech	Ibland (5–29 %)
Weak voice	Ibland (5–29 %)
Inability to produce voice sounds	Inte registrerat

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Low number of red blood cells or hemoglobin	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till POLG och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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