Požymiai

Su RRM2B susiję požymiai

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Žmogaus fenotipo ontologija sieja 181 požymį su RRM2B: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

RRM2B

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Leukoencephalopathy	Labai dažnai (80–99%)
Nerve damage causing decreased feeling and movement	Labai dažnai (80–99%)
Abnormal cerebral white matter morphology	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Decreased motor nerve conduction velocity	Dažnai (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Dažnai (30–79%)
Decreased sensory nerve conduction velocity	Dažnai (30–79%)
Demyelinating peripheral neuropathy	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Peripheral axonal neuropathy	Dažnai (30–79%)
Peripheral neuropathy	Dažnai (30–79%)
Pins and needles feeling	Dažnai (30–79%)
Resting tremor	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Abnormal pyramidal sign	Kartais (5–29%)
Abnormal spinocerebellar tract morphology	Kartais (5–29%)
Abnormality of balance	Kartais (5–29%)
Abnormality of extrapyramidal motor function	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Cognitive impairment	Kartais (5–29%)
Decreased muscle movement	Kartais (5–29%)
Decreased reflex response	Kartais (5–29%)
Deficit in phonologic short-term memory	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Dementia	Kartais (5–29%)
Depression	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Focal white matter lesions	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Loss of ability to walk	Kartais (5–29%)
Migraine	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Psychomotor deterioration	Kartais (5–29%)
Repeated seizures without recovery between them	Kartais (5–29%)
Tremor	Kartais (5–29%)
Uncoordinated limb movement	Kartais (5–29%)
Bipolar disorder	Retai (1–4 %)
Worsening neurological symptoms	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone in trunk	Visada
Cytochrome C oxidase-negative muscle fibers	Dažnai (30–79%)
Decreased lung function due to weak breathing muscles	Dažnai (30–79%)
Difficulty walking up stairs	Dažnai (30–79%)
EMG abnormality	Dažnai (30–79%)
EMG: myopathic abnormalities	Dažnai (30–79%)
Fatigable weakness of respiratory muscles	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Mitochondrial myopathy	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle tissue disease	Dažnai (30–79%)
Progressive intervertebral space narrowing	Dažnai (30–79%)
Ragged-red muscle fibers	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Weak and soft bones	Dažnai (30–79%)
Weakness of outermost muscles	Dažnai (30–79%)
Cogwheel rigidity	Kartais (5–29%)
Decreased muscle mass	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Neck flexion weakness	Kartais (5–29%)
Neck muscle weakness	Kartais (5–29%)
Recurrent fractures	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Muscle spasm	Retai (1–4 %)
Osteoporosis	Retai (1–4 %)
Spasticity and rigidity of muscles	Retai (1–4 %)
Increased muscle fatiguability	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Progressive external ophthalmoplegia	Visada
Rod-cone dystrophy	Visada
Visual impairment	Visada
Drooping upper eyelid	Labai dažnai (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Labai dažnai (80–99%)
Pigmentary retinopathy	Labai dažnai (80–99%)
Abnormality of eye movement	Dažnai (30–79%)
Drooping of both upper eyelids	Dažnai (30–79%)
Eye muscle paralysis	Dažnai (30–79%)
Weakness of muscles controlling eye movement	Dažnai (30–79%)
Clouding of the lens of the eye	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Loss of peripheral vision	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Optic disc pallor	Kartais (5–29%)
Spicular pigmentation of the retina	Kartais (5–29%)
Cerebral visual impairment	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal bloating	Labai dažnai (80–99%)
Abdominal pain	Labai dažnai (80–99%)
Acid reflux	Labai dažnai (80–99%)
Atrophic muscularis propria	Labai dažnai (80–99%)
Gastrointestinal dysmotility	Labai dažnai (80–99%)
Nausea	Labai dažnai (80–99%)
Poor appetite	Labai dažnai (80–99%)
Poor swallowing	Labai dažnai (80–99%)
Small intestinal dysmotility	Labai dažnai (80–99%)
Vomiting	Labai dažnai (80–99%)
Abnormality of the gastrointestinal tract	Dažnai (30–79%)
Diarrhea	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Constipation	Kartais (5–29%)
Delayed gastric emptying	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Abnormality of the liver	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Increased lactate in body	Visada
Renal Fanconi syndrome	Visada
High liver enzymes	Dažnai (30–79%)
Increased blood alanine	Dažnai (30–79%)
Increased CSF protein concentration	Dažnai (30–79%)
Accumulation of acid in body due to kidney problem	Kartais (5–29%)
Diabetes mellitus	Kartais (5–29%)
Elevated blood creatine phosphokinase	Kartais (5–29%)
Glucose in urine	Kartais (5–29%)
Glucose intolerance	Kartais (5–29%)
Higher than normal levels of lactate in blood	Kartais (5–29%)
Increased CSF lactate	Kartais (5–29%)
Macrovesicular hepatic steatosis	Kartais (5–29%)
Severe lactic acidosis	Kartais (5–29%)
Fluid retention	Retai (1–4 %)
High levels of ketone bodies	Retai (1–4 %)
Abnormal urinary amino-acid findings	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Complete heart block	Labai dažnai (80–99%)
Abnormal atrioventricular conduction	Kartais (5–29%)
Abnormal heart rate	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Kartais (5–29%)
Reduced left ventricular ejection fraction	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Ventricular arrhythmia	Kartais (5–29%)
Palpitations	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Anterior hypopituitarism	Dažnai (30–79%)
Decreased parathyroid hormone secretion	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)
Hypergonadotropic hypogonadism	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Enlarged thyroid gland in neck	Retai (1–4 %)
Overactive thyroid	Retai (1–4 %)
Underactive thyroid	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Limb muscle weakness	Labai dažnai (80–99%)
Abnormality of the hand	Dažnai (30–79%)
Areflexia of lower limbs	Dažnai (30–79%)
Foot drop	Dažnai (30–79%)
Quadriceps weakness	Dažnai (30–79%)
Weak shoulder muscles	Dažnai (30–79%)
Absent ankle reflexes	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the extraocular muscles	Dažnai (30–79%)
Bell's palsy	Dažnai (30–79%)
Decreased facial expressions	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Weakness of facial musculature	Dažnai (30–79%)
Facial diplegia	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of the mitochondrion	Dažnai (30–79%)
Abnormal cell morphology	Kartais (5–29%)
Decreased activity of mitochondrial complex IV	Kartais (5–29%)
Multiple mitochondrial DNA deletions	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Proximal tubulopathy	Visada
Stage 5 chronic kidney disease	Dažnai (30–79%)
Chronic kidney disease	Kartais (5–29%)
Nocturia	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Labai dažnai (80–99%)
Exercise-induced muscle pain	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)
Muscle ache	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Wasting syndrome	Labai dažnai (80–99%)
Weight loss	Dažnai (30–79%)
Faltering weight	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Kartais (5–29%)
Exertional breathlessness	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Inability to produce voice sounds	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su RRM2B susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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