Kjennetegn

Kjennetegn knyttet til RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Human Phenotype Ontology knytter 181 kjennetegn til RRM2B, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Low muscle tone in trunk	Alltid
Cytochrome C oxidase-negative muscle fibers	Ofte (30–79 %)
Decreased lung function due to weak breathing muscles	Ofte (30–79 %)
Difficulty walking up stairs	Ofte (30–79 %)
EMG abnormality	Ofte (30–79 %)
EMG: myopathic abnormalities	Ofte (30–79 %)
Fatigable weakness of respiratory muscles	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Mitochondrial myopathy	Ofte (30–79 %)
Muscle degeneration	Ofte (30–79 %)
Muscle tissue disease	Ofte (30–79 %)
Progressive intervertebral space narrowing	Ofte (30–79 %)
Ragged-red muscle fibers	Ofte (30–79 %)
Tired easily	Ofte (30–79 %)
Weak and soft bones	Ofte (30–79 %)
Weakness of outermost muscles	Ofte (30–79 %)
Cogwheel rigidity	Noen ganger (5–29 %)
Decreased muscle mass	Noen ganger (5–29 %)
Delayed bone maturation	Noen ganger (5–29 %)
Frequent falls	Noen ganger (5–29 %)
Generalized decreased muscle tone	Noen ganger (5–29 %)
Muscle weakness	Noen ganger (5–29 %)
Neck flexion weakness	Noen ganger (5–29 %)
Neck muscle weakness	Noen ganger (5–29 %)
Recurrent fractures	Noen ganger (5–29 %)
Rigidity	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Muscle spasm	Sjelden (1–4%)
Osteoporosis	Sjelden (1–4%)
Spasticity and rigidity of muscles	Sjelden (1–4%)
Increased muscle fatiguability	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Progressive external ophthalmoplegia	Alltid
Rod-cone dystrophy	Alltid
Visual impairment	Alltid
Drooping upper eyelid	Svært ofte (80–99 %)
Paralysis or weakness of muscles within or surrounding outer part of eye	Svært ofte (80–99 %)
Pigmentary retinopathy	Svært ofte (80–99 %)
Abnormality of eye movement	Ofte (30–79 %)
Drooping of both upper eyelids	Ofte (30–79 %)
Eye muscle paralysis	Ofte (30–79 %)
Weakness of muscles controlling eye movement	Ofte (30–79 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Inward turning cross eyed	Noen ganger (5–29 %)
Loss of peripheral vision	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Optic disc pallor	Noen ganger (5–29 %)
Spicular pigmentation of the retina	Noen ganger (5–29 %)
Cerebral visual impairment	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abdominal bloating	Svært ofte (80–99 %)
Abdominal pain	Svært ofte (80–99 %)
Acid reflux	Svært ofte (80–99 %)
Atrophic muscularis propria	Svært ofte (80–99 %)
Gastrointestinal dysmotility	Svært ofte (80–99 %)
Nausea	Svært ofte (80–99 %)
Poor appetite	Svært ofte (80–99 %)
Poor swallowing	Svært ofte (80–99 %)
Small intestinal dysmotility	Svært ofte (80–99 %)
Vomiting	Svært ofte (80–99 %)
Abnormality of the gastrointestinal tract	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Constipation	Noen ganger (5–29 %)
Delayed gastric emptying	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)
Abnormality of the liver	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Increased lactate in body	Alltid
Renal Fanconi syndrome	Alltid
High liver enzymes	Ofte (30–79 %)
Increased blood alanine	Ofte (30–79 %)
Increased CSF protein concentration	Ofte (30–79 %)
Accumulation of acid in body due to kidney problem	Noen ganger (5–29 %)
Diabetes mellitus	Noen ganger (5–29 %)
Elevated blood creatine phosphokinase	Noen ganger (5–29 %)
Glucose in urine	Noen ganger (5–29 %)
Glucose intolerance	Noen ganger (5–29 %)
Higher than normal levels of lactate in blood	Noen ganger (5–29 %)
Increased CSF lactate	Noen ganger (5–29 %)
Macrovesicular hepatic steatosis	Noen ganger (5–29 %)
Severe lactic acidosis	Noen ganger (5–29 %)
Fluid retention	Sjelden (1–4%)
High levels of ketone bodies	Sjelden (1–4%)
Abnormal urinary amino-acid findings	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Complete heart block	Svært ofte (80–99 %)
Abnormal atrioventricular conduction	Noen ganger (5–29 %)
Abnormal heart rate	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Noen ganger (5–29 %)
Reduced left ventricular ejection fraction	Noen ganger (5–29 %)
Stretched and thinned heart muscle	Noen ganger (5–29 %)
Ventricular arrhythmia	Noen ganger (5–29 %)
Palpitations	Sjelden (1–4%)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Anterior hypopituitarism	Ofte (30–79 %)
Decreased parathyroid hormone secretion	Noen ganger (5–29 %)
Delayed puberty	Noen ganger (5–29 %)
Hypergonadotropic hypogonadism	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Noen ganger (5–29 %)
Enlarged thyroid gland in neck	Sjelden (1–4%)
Overactive thyroid	Sjelden (1–4%)
Underactive thyroid	Sjelden (1–4%)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Limb muscle weakness	Svært ofte (80–99 %)
Abnormality of the hand	Ofte (30–79 %)
Areflexia of lower limbs	Ofte (30–79 %)
Foot drop	Ofte (30–79 %)
Quadriceps weakness	Ofte (30–79 %)
Weak shoulder muscles	Ofte (30–79 %)
Absent ankle reflexes	Sjelden (1–4%)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Abnormality of the extraocular muscles	Ofte (30–79 %)
Bell's palsy	Ofte (30–79 %)
Decreased facial expressions	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Weakness of facial musculature	Ofte (30–79 %)
Facial diplegia	Noen ganger (5–29 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Abnormality of the mitochondrion	Ofte (30–79 %)
Abnormal cell morphology	Noen ganger (5–29 %)
Decreased activity of mitochondrial complex IV	Noen ganger (5–29 %)
Multiple mitochondrial DNA deletions	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Proximal tubulopathy	Alltid
Stage 5 chronic kidney disease	Ofte (30–79 %)
Chronic kidney disease	Noen ganger (5–29 %)
Nocturia	Sjelden (1–4%)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Decreased ability to exercise	Svært ofte (80–99 %)
Exercise-induced muscle pain	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)
Muscle ache	Ofte (30–79 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Wasting syndrome	Svært ofte (80–99 %)
Weight loss	Ofte (30–79 %)
Faltering weight	Noen ganger (5–29 %)
Short stature	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Hearing impairment	Ofte (30–79 %)
Sensorineural hearing impairment	Ofte (30–79 %)
Bilateral sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulties	Noen ganger (5–29 %)
Exertional breathlessness	Noen ganger (5–29 %)
Respiratory function loss	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Inability to produce voice sounds	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til RRM2B og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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