Tratti

Tratti collegati a RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

La Human Phenotype Ontology collega 181 tratti a RRM2B, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Tratto	Frequenza di osservazione
Progressive external ophthalmoplegia	Sempre
Rod-cone dystrophy	Sempre
Visual impairment	Sempre
Drooping upper eyelid	Molto spesso (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Molto spesso (80–99%)
Pigmentary retinopathy	Molto spesso (80–99%)
Abnormality of eye movement	Spesso (30–79%)
Drooping of both upper eyelids	Spesso (30–79%)
Eye muscle paralysis	Spesso (30–79%)
Weakness of muscles controlling eye movement	Spesso (30–79%)
Clouding of the lens of the eye	A volte (5–29%)
Glaucoma	A volte (5–29%)
Inward turning cross eyed	A volte (5–29%)
Loss of peripheral vision	A volte (5–29%)
Optic atrophy	A volte (5–29%)
Optic disc pallor	A volte (5–29%)
Spicular pigmentation of the retina	A volte (5–29%)
Cerebral visual impairment	Raramente (1–4%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Abdominal bloating	Molto spesso (80–99%)
Abdominal pain	Molto spesso (80–99%)
Acid reflux	Molto spesso (80–99%)
Atrophic muscularis propria	Molto spesso (80–99%)
Gastrointestinal dysmotility	Molto spesso (80–99%)
Nausea	Molto spesso (80–99%)
Poor appetite	Molto spesso (80–99%)
Poor swallowing	Molto spesso (80–99%)
Small intestinal dysmotility	Molto spesso (80–99%)
Vomiting	Molto spesso (80–99%)
Abnormality of the gastrointestinal tract	Spesso (30–79%)
Diarrhea	Spesso (30–79%)
Feeding difficulties	Spesso (30–79%)
Constipation	A volte (5–29%)
Delayed gastric emptying	A volte (5–29%)
Scar tissue replaces healthy tissue in the liver	A volte (5–29%)
Abnormality of the liver	Raramente (1–4%)

Laboratory abnormality

Tratto	Frequenza di osservazione
Increased lactate in body	Sempre
Renal Fanconi syndrome	Sempre
High liver enzymes	Spesso (30–79%)
Increased blood alanine	Spesso (30–79%)
Increased CSF protein concentration	Spesso (30–79%)
Accumulation of acid in body due to kidney problem	A volte (5–29%)
Diabetes mellitus	A volte (5–29%)
Elevated blood creatine phosphokinase	A volte (5–29%)
Glucose in urine	A volte (5–29%)
Glucose intolerance	A volte (5–29%)
Higher than normal levels of lactate in blood	A volte (5–29%)
Increased CSF lactate	A volte (5–29%)
Macrovesicular hepatic steatosis	A volte (5–29%)
Severe lactic acidosis	A volte (5–29%)
Fluid retention	Raramente (1–4%)
High levels of ketone bodies	Raramente (1–4%)
Abnormal urinary amino-acid findings	Non registrato

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Complete heart block	Molto spesso (80–99%)
Abnormal atrioventricular conduction	A volte (5–29%)
Abnormal heart rate	A volte (5–29%)
Disease of the heart muscle	A volte (5–29%)
Left ventricular hypertrophy	A volte (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	A volte (5–29%)
Reduced left ventricular ejection fraction	A volte (5–29%)
Stretched and thinned heart muscle	A volte (5–29%)
Ventricular arrhythmia	A volte (5–29%)
Palpitations	Raramente (1–4%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Anterior hypopituitarism	Spesso (30–79%)
Decreased parathyroid hormone secretion	A volte (5–29%)
Delayed puberty	A volte (5–29%)
Hypergonadotropic hypogonadism	A volte (5–29%)
Hypogonadotropic hypogonadism	A volte (5–29%)
Enlarged thyroid gland in neck	Raramente (1–4%)
Overactive thyroid	Raramente (1–4%)
Underactive thyroid	Raramente (1–4%)

Abnormality of limbs

Tratto	Frequenza di osservazione
Limb muscle weakness	Molto spesso (80–99%)
Abnormality of the hand	Spesso (30–79%)
Areflexia of lower limbs	Spesso (30–79%)
Foot drop	Spesso (30–79%)
Quadriceps weakness	Spesso (30–79%)
Weak shoulder muscles	Spesso (30–79%)
Absent ankle reflexes	Raramente (1–4%)

Abnormality of head or neck

Tratto	Frequenza di osservazione
Abnormality of the extraocular muscles	Spesso (30–79%)
Bell's palsy	Spesso (30–79%)
Decreased facial expressions	Spesso (30–79%)
High palate	Spesso (30–79%)
Weakness of facial musculature	Spesso (30–79%)
Facial diplegia	A volte (5–29%)

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Abnormality of the mitochondrion	Spesso (30–79%)
Abnormal cell morphology	A volte (5–29%)
Decreased activity of mitochondrial complex IV	A volte (5–29%)
Multiple mitochondrial DNA deletions	Non registrato

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Proximal tubulopathy	Sempre
Stage 5 chronic kidney disease	Spesso (30–79%)
Chronic kidney disease	A volte (5–29%)
Nocturia	Raramente (1–4%)

Constitutional symptom

Tratto	Frequenza di osservazione
Decreased ability to exercise	Molto spesso (80–99%)
Exercise-induced muscle pain	Spesso (30–79%)
Fatigue	Spesso (30–79%)
Muscle ache	Spesso (30–79%)

Growth abnormality

Tratto	Frequenza di osservazione
Wasting syndrome	Molto spesso (80–99%)
Weight loss	Spesso (30–79%)
Faltering weight	A volte (5–29%)
Short stature	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Hearing impairment	Spesso (30–79%)
Sensorineural hearing impairment	Spesso (30–79%)
Bilateral sensorineural hearing impairment	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Breathing difficulties	A volte (5–29%)
Exertional breathlessness	A volte (5–29%)
Respiratory function loss	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Low number of red blood cells or hemoglobin	A volte (5–29%)

Abnormality of the voice

Tratto	Frequenza di osservazione
Inability to produce voice sounds	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a RRM2B e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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