Özellikler

POLG ile ilişkili özellikler

DNA polymerase gamma, catalytic subunit

Human Phenotype Ontology, POLG ile ilişkili 285 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

POLG

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Intestinal pseudo-obstruction	Her zaman
Poor swallowing	Her zaman
Abdominal bloating	Çok sık (%80–99)
Abdominal cramps	Çok sık (%80–99)
Abdominal pain	Çok sık (%80–99)
Acid reflux	Çok sık (%80–99)
Atrophic muscularis propria	Çok sık (%80–99)
Diarrhea	Çok sık (%80–99)
Feeling full quickly when eating	Çok sık (%80–99)
Gastrointestinal dysmotility	Çok sık (%80–99)
Increased bowel sounds	Çok sık (%80–99)
Nausea	Çok sık (%80–99)
Poor appetite	Çok sık (%80–99)
Small intestinal dysmotility	Çok sık (%80–99)
Vomiting	Çok sık (%80–99)
Abnormality of the gastrointestinal tract	Sık (%30–79)
Accumulation of fluid in the abdomen	Sık (%30–79)
Acute liver failure	Sık (%30–79)
Bile duct proliferation	Sık (%30–79)
Colonic diverticula	Sık (%30–79)
Delayed gastric emptying	Sık (%30–79)
Jaundice	Sık (%30–79)
Liver failure	Sık (%30–79)
Micronodular cirrhosis	Sık (%30–79)
Constipation	Bazen (%5–29)
Scar tissue replaces healthy tissue in the liver	Bazen (%5–29)
Abnormality of the liver	Seyrek (%1–4)
Enlarged liver	Kaydedilmedi
Intermittent diarrhea	Kaydedilmedi
Intestinal perforation	Kaydedilmedi
Malabsorption	Kaydedilmedi
Malnutrition	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Cerebral visual impairment	Her zaman
Double vision	Her zaman
Drooping of both upper eyelids	Her zaman
Drooping upper eyelid	Her zaman
Inward turning cross eyed	Her zaman
Progressive external ophthalmoplegia	Her zaman
Weakness of muscles controlling eye movement	Her zaman
Paralysis or weakness of muscles within or surrounding outer part of eye	Çok sık (%80–99)
Abnormality of eye movement	Sık (%30–79)
Abnormality of the eye	Sık (%30–79)
Abnormality of vision	Sık (%30–79)
Eye muscle paralysis	Sık (%30–79)
Gaze-evoked nystagmus	Sık (%30–79)
Hemianopia	Sık (%30–79)
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Optic atrophy	Sık (%30–79)
Total ophthalmoplegia	Sık (%30–79)
Upgaze palsy	Sık (%30–79)
Blindness	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Color blindness	Bazen (%5–29)
Optic neuritis	Bazen (%5–29)
Retina issue	Bazen (%5–29)
Retinal pigment epithelial mottling	Bazen (%5–29)
Visual impairment	Bazen (%5–29)
Abnormality of visual evoked potentials	Kaydedilmedi
Visual loss	Kaydedilmedi

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Elevated circulating deoxyuridine concentration	Her zaman
Elevated circulating thymidine concentration	Her zaman
Reduced tissue thymidine phosphorylase activity	Her zaman
Anasarca	Sık (%30–79)
High liver enzymes	Sık (%30–79)
Higher than normal levels of lactate in blood	Sık (%30–79)
Increased blood alanine	Sık (%30–79)
Increased circulating pyruvate concentration	Sık (%30–79)
Increased CSF protein concentration	Sık (%30–79)
Increased lactate in body	Sık (%30–79)
Elevated blood creatine phosphokinase	Bazen (%5–29)
Glucose intolerance	Bazen (%5–29)
Macrovesicular hepatic steatosis	Bazen (%5–29)
Mildly elevated creatine kinase	Bazen (%5–29)
Diabetes mellitus	Seyrek (%1–4)
Fluid retention	Seyrek (%1–4)
High levels of ketone bodies	Seyrek (%1–4)
3-Methylglutaconic aciduria	Kaydedilmedi
Acidic urine	Kaydedilmedi
Ethylmalonic aciduria	Kaydedilmedi
Microvesicular hepatic steatosis	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Disease of the heart muscle	Sık (%30–79)
Mitral valve prolapse	Sık (%30–79)
ST segment elevation	Sık (%30–79)
Abnormal heart rate	Bazen (%5–29)
Left ventricular hypertrophy	Bazen (%5–29)
Mitral regurgitation	Bazen (%5–29)
Quivering upper heart chambers resulting in irregular heartbeat	Bazen (%5–29)
Reduced left ventricular ejection fraction	Bazen (%5–29)
Stretched and thinned heart muscle	Bazen (%5–29)
Ventricular arrhythmia	Bazen (%5–29)
Palpitations	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Areflexia of lower limbs	Her zaman
Abnormality of the hand	Sık (%30–79)
Foot drop	Sık (%30–79)
Limb muscle weakness	Sık (%30–79)
Quadriceps weakness	Sık (%30–79)
Weak shoulder muscles	Sık (%30–79)
Absent ankle reflexes	Bazen (%5–29)
Hand muscle weakness	Bazen (%5–29)
High-arched foot	Bazen (%5–29)
Winged shoulder blade	Bazen (%5–29)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Bell's palsy	Her zaman
Weakness of facial musculature	Her zaman
Abnormality of the extraocular muscles	Sık (%30–79)
Abnormally small head	Sık (%30–79)
Decreased facial expressions	Sık (%30–79)
Expressionless face	Sık (%30–79)
Movement abnormality of the tongue	Sık (%30–79)
Facial diplegia	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased activity of mitochondrial complex I	Her zaman
Decreased activity of mitochondrial complex IV	Her zaman
Depletion of mitochondrial DNA in muscle tissue	Her zaman
Multiple mitochondrial DNA deletions	Her zaman
Abnormality of the mitochondrion	Sık (%30–79)
Abnormal cell morphology	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Hashimoto thyroiditis	Sık (%30–79)
Hypergonadotropic hypogonadism	Bazen (%5–29)
Hypogonadotropic hypogonadism	Bazen (%5–29)
Enlarged thyroid gland in neck	Seyrek (%1–4)
Overactive thyroid	Seyrek (%1–4)
Underactive thyroid	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Previous menstrual periods stop	Her zaman
Nocturia	Seyrek (%1–4)
Early menopause	Kaydedilmedi
Primary amenorrhea	Kaydedilmedi
Testicular degeneration	Kaydedilmedi

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Sensorineural hearing impairment	Her zaman
Abnormal vestibular function	Sık (%30–79)
Bilateral sensorineural hearing impairment	Sık (%30–79)
Hearing impairment	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Floppy windpipe	Sık (%30–79)
Slow breathing	Sık (%30–79)
Exertional breathlessness	Bazen (%5–29)
Respiratory function loss	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Allodynia	Her zaman
Decreased ability to exercise	Her zaman
Fatigue	Sık (%30–79)
Muscle ache	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Wasting syndrome	Her zaman
Weight loss	Her zaman
Faltering weight	Bazen (%5–29)
Slender build	Kaydedilmedi

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Nasal speech	Bazen (%5–29)
Weak voice	Bazen (%5–29)
Inability to produce voice sounds	Kaydedilmedi

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Low number of red blood cells or hemoglobin	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: POLG ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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