특성

POLG 연관 특성

DNA polymerase gamma, catalytic subunit

인간 표현형 온톨로지가 POLG에 연결하는 특성은 285개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

특성	나타나는 빈도
Intestinal pseudo-obstruction	항상
Poor swallowing	항상
Abdominal bloating	매우 자주 (80–99%)
Abdominal cramps	매우 자주 (80–99%)
Abdominal pain	매우 자주 (80–99%)
Acid reflux	매우 자주 (80–99%)
Atrophic muscularis propria	매우 자주 (80–99%)
Diarrhea	매우 자주 (80–99%)
Feeling full quickly when eating	매우 자주 (80–99%)
Gastrointestinal dysmotility	매우 자주 (80–99%)
Increased bowel sounds	매우 자주 (80–99%)
Nausea	매우 자주 (80–99%)
Poor appetite	매우 자주 (80–99%)
Small intestinal dysmotility	매우 자주 (80–99%)
Vomiting	매우 자주 (80–99%)
Abnormality of the gastrointestinal tract	자주 (30–79%)
Accumulation of fluid in the abdomen	자주 (30–79%)
Acute liver failure	자주 (30–79%)
Bile duct proliferation	자주 (30–79%)
Colonic diverticula	자주 (30–79%)
Delayed gastric emptying	자주 (30–79%)
Jaundice	자주 (30–79%)
Liver failure	자주 (30–79%)
Micronodular cirrhosis	자주 (30–79%)
Constipation	가끔 (5–29%)
Scar tissue replaces healthy tissue in the liver	가끔 (5–29%)
Abnormality of the liver	드물게 (1–4%)
Enlarged liver	기록되지 않음
Intermittent diarrhea	기록되지 않음
Intestinal perforation	기록되지 않음
Malabsorption	기록되지 않음
Malnutrition	기록되지 않음

Abnormality of the eye

특성	나타나는 빈도
Cerebral visual impairment	항상
Double vision	항상
Drooping of both upper eyelids	항상
Drooping upper eyelid	항상
Inward turning cross eyed	항상
Progressive external ophthalmoplegia	항상
Weakness of muscles controlling eye movement	항상
Paralysis or weakness of muscles within or surrounding outer part of eye	매우 자주 (80–99%)
Abnormality of eye movement	자주 (30–79%)
Abnormality of the eye	자주 (30–79%)
Abnormality of vision	자주 (30–79%)
Eye muscle paralysis	자주 (30–79%)
Gaze-evoked nystagmus	자주 (30–79%)
Hemianopia	자주 (30–79%)
Involuntary, rapid, rhythmic eye movements	자주 (30–79%)
Optic atrophy	자주 (30–79%)
Total ophthalmoplegia	자주 (30–79%)
Upgaze palsy	자주 (30–79%)
Blindness	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Color blindness	가끔 (5–29%)
Optic neuritis	가끔 (5–29%)
Retina issue	가끔 (5–29%)
Retinal pigment epithelial mottling	가끔 (5–29%)
Visual impairment	가끔 (5–29%)
Abnormality of visual evoked potentials	기록되지 않음
Visual loss	기록되지 않음

Laboratory abnormality

특성	나타나는 빈도
Elevated circulating deoxyuridine concentration	항상
Elevated circulating thymidine concentration	항상
Reduced tissue thymidine phosphorylase activity	항상
Anasarca	자주 (30–79%)
High liver enzymes	자주 (30–79%)
Higher than normal levels of lactate in blood	자주 (30–79%)
Increased blood alanine	자주 (30–79%)
Increased circulating pyruvate concentration	자주 (30–79%)
Increased CSF protein concentration	자주 (30–79%)
Increased lactate in body	자주 (30–79%)
Elevated blood creatine phosphokinase	가끔 (5–29%)
Glucose intolerance	가끔 (5–29%)
Macrovesicular hepatic steatosis	가끔 (5–29%)
Mildly elevated creatine kinase	가끔 (5–29%)
Diabetes mellitus	드물게 (1–4%)
Fluid retention	드물게 (1–4%)
High levels of ketone bodies	드물게 (1–4%)
3-Methylglutaconic aciduria	기록되지 않음
Acidic urine	기록되지 않음
Ethylmalonic aciduria	기록되지 않음
Microvesicular hepatic steatosis	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Disease of the heart muscle	자주 (30–79%)
Mitral valve prolapse	자주 (30–79%)
ST segment elevation	자주 (30–79%)
Abnormal heart rate	가끔 (5–29%)
Left ventricular hypertrophy	가끔 (5–29%)
Mitral regurgitation	가끔 (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	가끔 (5–29%)
Reduced left ventricular ejection fraction	가끔 (5–29%)
Stretched and thinned heart muscle	가끔 (5–29%)
Ventricular arrhythmia	가끔 (5–29%)
Palpitations	드물게 (1–4%)

Abnormality of limbs

특성	나타나는 빈도
Areflexia of lower limbs	항상
Abnormality of the hand	자주 (30–79%)
Foot drop	자주 (30–79%)
Limb muscle weakness	자주 (30–79%)
Quadriceps weakness	자주 (30–79%)
Weak shoulder muscles	자주 (30–79%)
Absent ankle reflexes	가끔 (5–29%)
Hand muscle weakness	가끔 (5–29%)
High-arched foot	가끔 (5–29%)
Winged shoulder blade	가끔 (5–29%)

Abnormality of head or neck

특성	나타나는 빈도
Bell's palsy	항상
Weakness of facial musculature	항상
Abnormality of the extraocular muscles	자주 (30–79%)
Abnormally small head	자주 (30–79%)
Decreased facial expressions	자주 (30–79%)
Expressionless face	자주 (30–79%)
Movement abnormality of the tongue	자주 (30–79%)
Facial diplegia	가끔 (5–29%)

Abnormal cellular phenotype

특성	나타나는 빈도
Decreased activity of mitochondrial complex I	항상
Decreased activity of mitochondrial complex IV	항상
Depletion of mitochondrial DNA in muscle tissue	항상
Multiple mitochondrial DNA deletions	항상
Abnormality of the mitochondrion	자주 (30–79%)
Abnormal cell morphology	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Hashimoto thyroiditis	자주 (30–79%)
Hypergonadotropic hypogonadism	가끔 (5–29%)
Hypogonadotropic hypogonadism	가끔 (5–29%)
Enlarged thyroid gland in neck	드물게 (1–4%)
Overactive thyroid	드물게 (1–4%)
Underactive thyroid	드물게 (1–4%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Previous menstrual periods stop	항상
Nocturia	드물게 (1–4%)
Early menopause	기록되지 않음
Primary amenorrhea	기록되지 않음
Testicular degeneration	기록되지 않음

Abnormality of the ear

특성	나타나는 빈도
Sensorineural hearing impairment	항상
Abnormal vestibular function	자주 (30–79%)
Bilateral sensorineural hearing impairment	자주 (30–79%)
Hearing impairment	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Floppy windpipe	자주 (30–79%)
Slow breathing	자주 (30–79%)
Exertional breathlessness	가끔 (5–29%)
Respiratory function loss	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Allodynia	항상
Decreased ability to exercise	항상
Fatigue	자주 (30–79%)
Muscle ache	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Wasting syndrome	항상
Weight loss	항상
Faltering weight	가끔 (5–29%)
Slender build	기록되지 않음

Abnormality of the voice

특성	나타나는 빈도
Nasal speech	가끔 (5–29%)
Weak voice	가끔 (5–29%)
Inability to produce voice sounds	기록되지 않음

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Low number of red blood cells or hemoglobin	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: POLG에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

검사 한 번으로, 평생의 답을.

$449부터배송비 무료 · 결과는 6~8주 내 제공

내 Genome Test 받기