Trăsături

Trăsături asociate cu POLG

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology asociază 285 trăsături cu POLG, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Intestinal pseudo-obstruction	Întotdeauna
Poor swallowing	Întotdeauna
Abdominal bloating	Foarte des (80–99%)
Abdominal cramps	Foarte des (80–99%)
Abdominal pain	Foarte des (80–99%)
Acid reflux	Foarte des (80–99%)
Atrophic muscularis propria	Foarte des (80–99%)
Diarrhea	Foarte des (80–99%)
Feeling full quickly when eating	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Increased bowel sounds	Foarte des (80–99%)
Nausea	Foarte des (80–99%)
Poor appetite	Foarte des (80–99%)
Small intestinal dysmotility	Foarte des (80–99%)
Vomiting	Foarte des (80–99%)
Abnormality of the gastrointestinal tract	Des (30–79%)
Accumulation of fluid in the abdomen	Des (30–79%)
Acute liver failure	Des (30–79%)
Bile duct proliferation	Des (30–79%)
Colonic diverticula	Des (30–79%)
Delayed gastric emptying	Des (30–79%)
Jaundice	Des (30–79%)
Liver failure	Des (30–79%)
Micronodular cirrhosis	Des (30–79%)
Constipation	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Abnormality of the liver	Rar (1–4%)
Enlarged liver	Neînregistrat
Intermittent diarrhea	Neînregistrat
Intestinal perforation	Neînregistrat
Malabsorption	Neînregistrat
Malnutrition	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cerebral visual impairment	Întotdeauna
Double vision	Întotdeauna
Drooping of both upper eyelids	Întotdeauna
Drooping upper eyelid	Întotdeauna
Inward turning cross eyed	Întotdeauna
Progressive external ophthalmoplegia	Întotdeauna
Weakness of muscles controlling eye movement	Întotdeauna
Paralysis or weakness of muscles within or surrounding outer part of eye	Foarte des (80–99%)
Abnormality of eye movement	Des (30–79%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Gaze-evoked nystagmus	Des (30–79%)
Hemianopia	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Optic atrophy	Des (30–79%)
Total ophthalmoplegia	Des (30–79%)
Upgaze palsy	Des (30–79%)
Blindness	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Color blindness	Uneori (5–29%)
Optic neuritis	Uneori (5–29%)
Retina issue	Uneori (5–29%)
Retinal pigment epithelial mottling	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Abnormality of visual evoked potentials	Neînregistrat
Visual loss	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated circulating deoxyuridine concentration	Întotdeauna
Elevated circulating thymidine concentration	Întotdeauna
Reduced tissue thymidine phosphorylase activity	Întotdeauna
Anasarca	Des (30–79%)
High liver enzymes	Des (30–79%)
Higher than normal levels of lactate in blood	Des (30–79%)
Increased blood alanine	Des (30–79%)
Increased circulating pyruvate concentration	Des (30–79%)
Increased CSF protein concentration	Des (30–79%)
Increased lactate in body	Des (30–79%)
Elevated blood creatine phosphokinase	Uneori (5–29%)
Glucose intolerance	Uneori (5–29%)
Macrovesicular hepatic steatosis	Uneori (5–29%)
Mildly elevated creatine kinase	Uneori (5–29%)
Diabetes mellitus	Rar (1–4%)
Fluid retention	Rar (1–4%)
High levels of ketone bodies	Rar (1–4%)
3-Methylglutaconic aciduria	Neînregistrat
Acidic urine	Neînregistrat
Ethylmalonic aciduria	Neînregistrat
Microvesicular hepatic steatosis	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Disease of the heart muscle	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
ST segment elevation	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Uneori (5–29%)
Reduced left ventricular ejection fraction	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Ventricular arrhythmia	Uneori (5–29%)
Palpitations	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Areflexia of lower limbs	Întotdeauna
Abnormality of the hand	Des (30–79%)
Foot drop	Des (30–79%)
Limb muscle weakness	Des (30–79%)
Quadriceps weakness	Des (30–79%)
Weak shoulder muscles	Des (30–79%)
Absent ankle reflexes	Uneori (5–29%)
Hand muscle weakness	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bell's palsy	Întotdeauna
Weakness of facial musculature	Întotdeauna
Abnormality of the extraocular muscles	Des (30–79%)
Abnormally small head	Des (30–79%)
Decreased facial expressions	Des (30–79%)
Expressionless face	Des (30–79%)
Movement abnormality of the tongue	Des (30–79%)
Facial diplegia	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna
Decreased activity of mitochondrial complex IV	Întotdeauna
Depletion of mitochondrial DNA in muscle tissue	Întotdeauna
Multiple mitochondrial DNA deletions	Întotdeauna
Abnormality of the mitochondrion	Des (30–79%)
Abnormal cell morphology	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hashimoto thyroiditis	Des (30–79%)
Hypergonadotropic hypogonadism	Uneori (5–29%)
Hypogonadotropic hypogonadism	Uneori (5–29%)
Enlarged thyroid gland in neck	Rar (1–4%)
Overactive thyroid	Rar (1–4%)
Underactive thyroid	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Previous menstrual periods stop	Întotdeauna
Nocturia	Rar (1–4%)
Early menopause	Neînregistrat
Primary amenorrhea	Neînregistrat
Testicular degeneration	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Întotdeauna
Abnormal vestibular function	Des (30–79%)
Bilateral sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Floppy windpipe	Des (30–79%)
Slow breathing	Des (30–79%)
Exertional breathlessness	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Allodynia	Întotdeauna
Decreased ability to exercise	Întotdeauna
Fatigue	Des (30–79%)
Muscle ache	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Wasting syndrome	Întotdeauna
Weight loss	Întotdeauna
Faltering weight	Uneori (5–29%)
Slender build	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Uneori (5–29%)
Weak voice	Uneori (5–29%)
Inability to produce voice sounds	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu POLG și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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