Trăsături

Trăsături asociate cu RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Human Phenotype Ontology asociază 181 trăsături cu RRM2B, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Progressive external ophthalmoplegia	Întotdeauna
Rod-cone dystrophy	Întotdeauna
Visual impairment	Întotdeauna
Drooping upper eyelid	Foarte des (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Foarte des (80–99%)
Pigmentary retinopathy	Foarte des (80–99%)
Abnormality of eye movement	Des (30–79%)
Drooping of both upper eyelids	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Weakness of muscles controlling eye movement	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Loss of peripheral vision	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic disc pallor	Uneori (5–29%)
Spicular pigmentation of the retina	Uneori (5–29%)
Cerebral visual impairment	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal bloating	Foarte des (80–99%)
Abdominal pain	Foarte des (80–99%)
Acid reflux	Foarte des (80–99%)
Atrophic muscularis propria	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Nausea	Foarte des (80–99%)
Poor appetite	Foarte des (80–99%)
Poor swallowing	Foarte des (80–99%)
Small intestinal dysmotility	Foarte des (80–99%)
Vomiting	Foarte des (80–99%)
Abnormality of the gastrointestinal tract	Des (30–79%)
Diarrhea	Des (30–79%)
Feeding difficulties	Des (30–79%)
Constipation	Uneori (5–29%)
Delayed gastric emptying	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Abnormality of the liver	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased lactate in body	Întotdeauna
Renal Fanconi syndrome	Întotdeauna
High liver enzymes	Des (30–79%)
Increased blood alanine	Des (30–79%)
Increased CSF protein concentration	Des (30–79%)
Accumulation of acid in body due to kidney problem	Uneori (5–29%)
Diabetes mellitus	Uneori (5–29%)
Elevated blood creatine phosphokinase	Uneori (5–29%)
Glucose in urine	Uneori (5–29%)
Glucose intolerance	Uneori (5–29%)
Higher than normal levels of lactate in blood	Uneori (5–29%)
Increased CSF lactate	Uneori (5–29%)
Macrovesicular hepatic steatosis	Uneori (5–29%)
Severe lactic acidosis	Uneori (5–29%)
Fluid retention	Rar (1–4%)
High levels of ketone bodies	Rar (1–4%)
Abnormal urinary amino-acid findings	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Complete heart block	Foarte des (80–99%)
Abnormal atrioventricular conduction	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Left ventricular hypertrophy	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 the endocrine system

Trăsătură	Cât de frecvent apare
Anterior hypopituitarism	Des (30–79%)
Decreased parathyroid hormone secretion	Uneori (5–29%)
Delayed puberty	Uneori (5–29%)
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 limbs

Trăsătură	Cât de frecvent apare
Limb muscle weakness	Foarte des (80–99%)
Abnormality of the hand	Des (30–79%)
Areflexia of lower limbs	Des (30–79%)
Foot drop	Des (30–79%)
Quadriceps weakness	Des (30–79%)
Weak shoulder muscles	Des (30–79%)
Absent ankle reflexes	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormality of the extraocular muscles	Des (30–79%)
Bell's palsy	Des (30–79%)
Decreased facial expressions	Des (30–79%)
High palate	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Facial diplegia	Uneori (5–29%)

Abnormal cellular phenotype

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Proximal tubulopathy	Întotdeauna
Stage 5 chronic kidney disease	Des (30–79%)
Chronic kidney disease	Uneori (5–29%)
Nocturia	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Decreased ability to exercise	Foarte des (80–99%)
Exercise-induced muscle pain	Des (30–79%)
Fatigue	Des (30–79%)
Muscle ache	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Wasting syndrome	Foarte des (80–99%)
Weight loss	Des (30–79%)
Faltering weight	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the ear

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

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)
Exertional breathlessness	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	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 RRM2B și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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