특성

RRM2B 연관 특성

ribonucleotide reductase regulatory TP53 inducible subunit M2B

인간 표현형 온톨로지가 RRM2B에 연결하는 특성은 181개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

특성	나타나는 빈도
Progressive external ophthalmoplegia	항상
Rod-cone dystrophy	항상
Visual impairment	항상
Drooping upper eyelid	매우 자주 (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	매우 자주 (80–99%)
Pigmentary retinopathy	매우 자주 (80–99%)
Abnormality of eye movement	자주 (30–79%)
Drooping of both upper eyelids	자주 (30–79%)
Eye muscle paralysis	자주 (30–79%)
Weakness of muscles controlling eye movement	자주 (30–79%)
Clouding of the lens of the eye	가끔 (5–29%)
Glaucoma	가끔 (5–29%)
Inward turning cross eyed	가끔 (5–29%)
Loss of peripheral vision	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Optic disc pallor	가끔 (5–29%)
Spicular pigmentation of the retina	가끔 (5–29%)
Cerebral visual impairment	드물게 (1–4%)

Abnormality of the digestive system

특성	나타나는 빈도
Abdominal bloating	매우 자주 (80–99%)
Abdominal pain	매우 자주 (80–99%)
Acid reflux	매우 자주 (80–99%)
Atrophic muscularis propria	매우 자주 (80–99%)
Gastrointestinal dysmotility	매우 자주 (80–99%)
Nausea	매우 자주 (80–99%)
Poor appetite	매우 자주 (80–99%)
Poor swallowing	매우 자주 (80–99%)
Small intestinal dysmotility	매우 자주 (80–99%)
Vomiting	매우 자주 (80–99%)
Abnormality of the gastrointestinal tract	자주 (30–79%)
Diarrhea	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Constipation	가끔 (5–29%)
Delayed gastric emptying	가끔 (5–29%)
Scar tissue replaces healthy tissue in the liver	가끔 (5–29%)
Abnormality of the liver	드물게 (1–4%)

Laboratory abnormality

특성	나타나는 빈도
Increased lactate in body	항상
Renal Fanconi syndrome	항상
High liver enzymes	자주 (30–79%)
Increased blood alanine	자주 (30–79%)
Increased CSF protein concentration	자주 (30–79%)
Accumulation of acid in body due to kidney problem	가끔 (5–29%)
Diabetes mellitus	가끔 (5–29%)
Elevated blood creatine phosphokinase	가끔 (5–29%)
Glucose in urine	가끔 (5–29%)
Glucose intolerance	가끔 (5–29%)
Higher than normal levels of lactate in blood	가끔 (5–29%)
Increased CSF lactate	가끔 (5–29%)
Macrovesicular hepatic steatosis	가끔 (5–29%)
Severe lactic acidosis	가끔 (5–29%)
Fluid retention	드물게 (1–4%)
High levels of ketone bodies	드물게 (1–4%)
Abnormal urinary amino-acid findings	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Complete heart block	매우 자주 (80–99%)
Abnormal atrioventricular conduction	가끔 (5–29%)
Abnormal heart rate	가끔 (5–29%)
Disease of the heart muscle	가끔 (5–29%)
Left ventricular hypertrophy	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 the endocrine system

특성	나타나는 빈도
Anterior hypopituitarism	자주 (30–79%)
Decreased parathyroid hormone secretion	가끔 (5–29%)
Delayed puberty	가끔 (5–29%)
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 limbs

특성	나타나는 빈도
Limb muscle weakness	매우 자주 (80–99%)
Abnormality of the hand	자주 (30–79%)
Areflexia of lower limbs	자주 (30–79%)
Foot drop	자주 (30–79%)
Quadriceps weakness	자주 (30–79%)
Weak shoulder muscles	자주 (30–79%)
Absent ankle reflexes	드물게 (1–4%)

Abnormality of head or neck

특성	나타나는 빈도
Abnormality of the extraocular muscles	자주 (30–79%)
Bell's palsy	자주 (30–79%)
Decreased facial expressions	자주 (30–79%)
High palate	자주 (30–79%)
Weakness of facial musculature	자주 (30–79%)
Facial diplegia	가끔 (5–29%)

Abnormal cellular phenotype

특성	나타나는 빈도
Abnormality of the mitochondrion	자주 (30–79%)
Abnormal cell morphology	가끔 (5–29%)
Decreased activity of mitochondrial complex IV	가끔 (5–29%)
Multiple mitochondrial DNA deletions	기록되지 않음

Abnormality of the genitourinary system

특성	나타나는 빈도
Proximal tubulopathy	항상
Stage 5 chronic kidney disease	자주 (30–79%)
Chronic kidney disease	가끔 (5–29%)
Nocturia	드물게 (1–4%)

Constitutional symptom

특성	나타나는 빈도
Decreased ability to exercise	매우 자주 (80–99%)
Exercise-induced muscle pain	자주 (30–79%)
Fatigue	자주 (30–79%)
Muscle ache	자주 (30–79%)

Growth abnormality

특성	나타나는 빈도
Wasting syndrome	매우 자주 (80–99%)
Weight loss	자주 (30–79%)
Faltering weight	가끔 (5–29%)
Short stature	가끔 (5–29%)

Abnormality of the ear

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

Abnormality of the respiratory system

특성	나타나는 빈도
Breathing difficulties	가끔 (5–29%)
Exertional breathlessness	가끔 (5–29%)
Respiratory function loss	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the voice

특성	나타나는 빈도
Inability to produce voice sounds	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: RRM2B에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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