Kenmerken

Kenmerken gekoppeld aan RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

De Human Phenotype Ontology koppelt 181 kenmerken aan RRM2B, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Progressive external ophthalmoplegia	Altijd
Rod-cone dystrophy	Altijd
Visual impairment	Altijd
Drooping upper eyelid	Heel vaak (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Heel vaak (80–99%)
Pigmentary retinopathy	Heel vaak (80–99%)
Abnormality of eye movement	Vaak (30–79%)
Drooping of both upper eyelids	Vaak (30–79%)
Eye muscle paralysis	Vaak (30–79%)
Weakness of muscles controlling eye movement	Vaak (30–79%)
Clouding of the lens of the eye	Soms (5–29%)
Glaucoma	Soms (5–29%)
Inward turning cross eyed	Soms (5–29%)
Loss of peripheral vision	Soms (5–29%)
Optic atrophy	Soms (5–29%)
Optic disc pallor	Soms (5–29%)
Spicular pigmentation of the retina	Soms (5–29%)
Cerebral visual impairment	Zelden (1–4%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Abdominal bloating	Heel vaak (80–99%)
Abdominal pain	Heel vaak (80–99%)
Acid reflux	Heel vaak (80–99%)
Atrophic muscularis propria	Heel vaak (80–99%)
Gastrointestinal dysmotility	Heel vaak (80–99%)
Nausea	Heel vaak (80–99%)
Poor appetite	Heel vaak (80–99%)
Poor swallowing	Heel vaak (80–99%)
Small intestinal dysmotility	Heel vaak (80–99%)
Vomiting	Heel vaak (80–99%)
Abnormality of the gastrointestinal tract	Vaak (30–79%)
Diarrhea	Vaak (30–79%)
Feeding difficulties	Vaak (30–79%)
Constipation	Soms (5–29%)
Delayed gastric emptying	Soms (5–29%)
Scar tissue replaces healthy tissue in the liver	Soms (5–29%)
Abnormality of the liver	Zelden (1–4%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Increased lactate in body	Altijd
Renal Fanconi syndrome	Altijd
High liver enzymes	Vaak (30–79%)
Increased blood alanine	Vaak (30–79%)
Increased CSF protein concentration	Vaak (30–79%)
Accumulation of acid in body due to kidney problem	Soms (5–29%)
Diabetes mellitus	Soms (5–29%)
Elevated blood creatine phosphokinase	Soms (5–29%)
Glucose in urine	Soms (5–29%)
Glucose intolerance	Soms (5–29%)
Higher than normal levels of lactate in blood	Soms (5–29%)
Increased CSF lactate	Soms (5–29%)
Macrovesicular hepatic steatosis	Soms (5–29%)
Severe lactic acidosis	Soms (5–29%)
Fluid retention	Zelden (1–4%)
High levels of ketone bodies	Zelden (1–4%)
Abnormal urinary amino-acid findings	Niet vastgelegd

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Complete heart block	Heel vaak (80–99%)
Abnormal atrioventricular conduction	Soms (5–29%)
Abnormal heart rate	Soms (5–29%)
Disease of the heart muscle	Soms (5–29%)
Left ventricular hypertrophy	Soms (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Soms (5–29%)
Reduced left ventricular ejection fraction	Soms (5–29%)
Stretched and thinned heart muscle	Soms (5–29%)
Ventricular arrhythmia	Soms (5–29%)
Palpitations	Zelden (1–4%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Anterior hypopituitarism	Vaak (30–79%)
Decreased parathyroid hormone secretion	Soms (5–29%)
Delayed puberty	Soms (5–29%)
Hypergonadotropic hypogonadism	Soms (5–29%)
Hypogonadotropic hypogonadism	Soms (5–29%)
Enlarged thyroid gland in neck	Zelden (1–4%)
Overactive thyroid	Zelden (1–4%)
Underactive thyroid	Zelden (1–4%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Limb muscle weakness	Heel vaak (80–99%)
Abnormality of the hand	Vaak (30–79%)
Areflexia of lower limbs	Vaak (30–79%)
Foot drop	Vaak (30–79%)
Quadriceps weakness	Vaak (30–79%)
Weak shoulder muscles	Vaak (30–79%)
Absent ankle reflexes	Zelden (1–4%)

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Abnormality of the extraocular muscles	Vaak (30–79%)
Bell's palsy	Vaak (30–79%)
Decreased facial expressions	Vaak (30–79%)
High palate	Vaak (30–79%)
Weakness of facial musculature	Vaak (30–79%)
Facial diplegia	Soms (5–29%)

Abnormal cellular phenotype

Kenmerk	Hoe vaak het voorkomt
Abnormality of the mitochondrion	Vaak (30–79%)
Abnormal cell morphology	Soms (5–29%)
Decreased activity of mitochondrial complex IV	Soms (5–29%)
Multiple mitochondrial DNA deletions	Niet vastgelegd

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Proximal tubulopathy	Altijd
Stage 5 chronic kidney disease	Vaak (30–79%)
Chronic kidney disease	Soms (5–29%)
Nocturia	Zelden (1–4%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Decreased ability to exercise	Heel vaak (80–99%)
Exercise-induced muscle pain	Vaak (30–79%)
Fatigue	Vaak (30–79%)
Muscle ache	Vaak (30–79%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Wasting syndrome	Heel vaak (80–99%)
Weight loss	Vaak (30–79%)
Faltering weight	Soms (5–29%)
Short stature	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Hearing impairment	Vaak (30–79%)
Sensorineural hearing impairment	Vaak (30–79%)
Bilateral sensorineural hearing impairment	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Breathing difficulties	Soms (5–29%)
Exertional breathlessness	Soms (5–29%)
Respiratory function loss	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Low number of red blood cells or hemoglobin	Soms (5–29%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Inability to produce voice sounds	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan RRM2B gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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