Tunnused

Geeniga POLG seotud tunnused

DNA polymerase gamma, catalytic subunit

Inimese fenotüübi ontoloogia seostab geeniga POLG 285 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Intestinal pseudo-obstruction	Alati
Poor swallowing	Alati
Abdominal bloating	Väga sageli (80–99%)
Abdominal cramps	Väga sageli (80–99%)
Abdominal pain	Väga sageli (80–99%)
Acid reflux	Väga sageli (80–99%)
Atrophic muscularis propria	Väga sageli (80–99%)
Diarrhea	Väga sageli (80–99%)
Feeling full quickly when eating	Väga sageli (80–99%)
Gastrointestinal dysmotility	Väga sageli (80–99%)
Increased bowel sounds	Väga sageli (80–99%)
Nausea	Väga sageli (80–99%)
Poor appetite	Väga sageli (80–99%)
Small intestinal dysmotility	Väga sageli (80–99%)
Vomiting	Väga sageli (80–99%)
Abnormality of the gastrointestinal tract	Sageli (30–79%)
Accumulation of fluid in the abdomen	Sageli (30–79%)
Acute liver failure	Sageli (30–79%)
Bile duct proliferation	Sageli (30–79%)
Colonic diverticula	Sageli (30–79%)
Delayed gastric emptying	Sageli (30–79%)
Jaundice	Sageli (30–79%)
Liver failure	Sageli (30–79%)
Micronodular cirrhosis	Sageli (30–79%)
Constipation	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Abnormality of the liver	Harva (1–4%)
Enlarged liver	Pole registreeritud
Intermittent diarrhea	Pole registreeritud
Intestinal perforation	Pole registreeritud
Malabsorption	Pole registreeritud
Malnutrition	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cerebral visual impairment	Alati
Double vision	Alati
Drooping of both upper eyelids	Alati
Drooping upper eyelid	Alati
Inward turning cross eyed	Alati
Progressive external ophthalmoplegia	Alati
Weakness of muscles controlling eye movement	Alati
Paralysis or weakness of muscles within or surrounding outer part of eye	Väga sageli (80–99%)
Abnormality of eye movement	Sageli (30–79%)
Abnormality of the eye	Sageli (30–79%)
Abnormality of vision	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Gaze-evoked nystagmus	Sageli (30–79%)
Hemianopia	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Total ophthalmoplegia	Sageli (30–79%)
Upgaze palsy	Sageli (30–79%)
Blindness	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Color blindness	Mõnikord (5–29%)
Optic neuritis	Mõnikord (5–29%)
Retina issue	Mõnikord (5–29%)
Retinal pigment epithelial mottling	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Abnormality of visual evoked potentials	Pole registreeritud
Visual loss	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated circulating deoxyuridine concentration	Alati
Elevated circulating thymidine concentration	Alati
Reduced tissue thymidine phosphorylase activity	Alati
Anasarca	Sageli (30–79%)
High liver enzymes	Sageli (30–79%)
Higher than normal levels of lactate in blood	Sageli (30–79%)
Increased blood alanine	Sageli (30–79%)
Increased circulating pyruvate concentration	Sageli (30–79%)
Increased CSF protein concentration	Sageli (30–79%)
Increased lactate in body	Sageli (30–79%)
Elevated blood creatine phosphokinase	Mõnikord (5–29%)
Glucose intolerance	Mõnikord (5–29%)
Macrovesicular hepatic steatosis	Mõnikord (5–29%)
Mildly elevated creatine kinase	Mõnikord (5–29%)
Diabetes mellitus	Harva (1–4%)
Fluid retention	Harva (1–4%)
High levels of ketone bodies	Harva (1–4%)
3-Methylglutaconic aciduria	Pole registreeritud
Acidic urine	Pole registreeritud
Ethylmalonic aciduria	Pole registreeritud
Microvesicular hepatic steatosis	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Disease of the heart muscle	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
ST segment elevation	Sageli (30–79%)
Abnormal heart rate	Mõnikord (5–29%)
Left ventricular hypertrophy	Mõnikord (5–29%)
Mitral regurgitation	Mõnikord (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Mõnikord (5–29%)
Reduced left ventricular ejection fraction	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Ventricular arrhythmia	Mõnikord (5–29%)
Palpitations	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Areflexia of lower limbs	Alati
Abnormality of the hand	Sageli (30–79%)
Foot drop	Sageli (30–79%)
Limb muscle weakness	Sageli (30–79%)
Quadriceps weakness	Sageli (30–79%)
Weak shoulder muscles	Sageli (30–79%)
Absent ankle reflexes	Mõnikord (5–29%)
Hand muscle weakness	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Winged shoulder blade	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Bell's palsy	Alati
Weakness of facial musculature	Alati
Abnormality of the extraocular muscles	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Decreased facial expressions	Sageli (30–79%)
Expressionless face	Sageli (30–79%)
Movement abnormality of the tongue	Sageli (30–79%)
Facial diplegia	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex I	Alati
Decreased activity of mitochondrial complex IV	Alati
Depletion of mitochondrial DNA in muscle tissue	Alati
Multiple mitochondrial DNA deletions	Alati
Abnormality of the mitochondrion	Sageli (30–79%)
Abnormal cell morphology	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Hashimoto thyroiditis	Sageli (30–79%)
Hypergonadotropic hypogonadism	Mõnikord (5–29%)
Hypogonadotropic hypogonadism	Mõnikord (5–29%)
Enlarged thyroid gland in neck	Harva (1–4%)
Overactive thyroid	Harva (1–4%)
Underactive thyroid	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Previous menstrual periods stop	Alati
Nocturia	Harva (1–4%)
Early menopause	Pole registreeritud
Primary amenorrhea	Pole registreeritud
Testicular degeneration	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Abnormal vestibular function	Sageli (30–79%)
Bilateral sensorineural hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Floppy windpipe	Sageli (30–79%)
Slow breathing	Sageli (30–79%)
Exertional breathlessness	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Allodynia	Alati
Decreased ability to exercise	Alati
Fatigue	Sageli (30–79%)
Muscle ache	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Wasting syndrome	Alati
Weight loss	Alati
Faltering weight	Mõnikord (5–29%)
Slender build	Pole registreeritud

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Nasal speech	Mõnikord (5–29%)
Weak voice	Mõnikord (5–29%)
Inability to produce voice sounds	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga POLG seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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