Tunnused

Geeniga RRM2B seotud tunnused

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Inimese fenotüübi ontoloogia seostab geeniga RRM2B 181 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Progressive external ophthalmoplegia	Alati
Rod-cone dystrophy	Alati
Visual impairment	Alati
Drooping upper eyelid	Väga sageli (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Väga sageli (80–99%)
Pigmentary retinopathy	Väga sageli (80–99%)
Abnormality of eye movement	Sageli (30–79%)
Drooping of both upper eyelids	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Weakness of muscles controlling eye movement	Sageli (30–79%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Inward turning cross eyed	Mõnikord (5–29%)
Loss of peripheral vision	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Optic disc pallor	Mõnikord (5–29%)
Spicular pigmentation of the retina	Mõnikord (5–29%)
Cerebral visual impairment	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal bloating	Väga sageli (80–99%)
Abdominal pain	Väga sageli (80–99%)
Acid reflux	Väga sageli (80–99%)
Atrophic muscularis propria	Väga sageli (80–99%)
Gastrointestinal dysmotility	Väga sageli (80–99%)
Nausea	Väga sageli (80–99%)
Poor appetite	Väga sageli (80–99%)
Poor swallowing	Väga sageli (80–99%)
Small intestinal dysmotility	Väga sageli (80–99%)
Vomiting	Väga sageli (80–99%)
Abnormality of the gastrointestinal tract	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Constipation	Mõnikord (5–29%)
Delayed gastric emptying	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Abnormality of the liver	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Increased lactate in body	Alati
Renal Fanconi syndrome	Alati
High liver enzymes	Sageli (30–79%)
Increased blood alanine	Sageli (30–79%)
Increased CSF protein concentration	Sageli (30–79%)
Accumulation of acid in body due to kidney problem	Mõnikord (5–29%)
Diabetes mellitus	Mõnikord (5–29%)
Elevated blood creatine phosphokinase	Mõnikord (5–29%)
Glucose in urine	Mõnikord (5–29%)
Glucose intolerance	Mõnikord (5–29%)
Higher than normal levels of lactate in blood	Mõnikord (5–29%)
Increased CSF lactate	Mõnikord (5–29%)
Macrovesicular hepatic steatosis	Mõnikord (5–29%)
Severe lactic acidosis	Mõnikord (5–29%)
Fluid retention	Harva (1–4%)
High levels of ketone bodies	Harva (1–4%)
Abnormal urinary amino-acid findings	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Complete heart block	Väga sageli (80–99%)
Abnormal atrioventricular conduction	Mõnikord (5–29%)
Abnormal heart rate	Mõnikord (5–29%)
Disease of the heart muscle	Mõnikord (5–29%)
Left ventricular hypertrophy	Mõnikord (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Mõnikord (5–29%)
Reduced left ventricular ejection fraction	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Ventricular arrhythmia	Mõnikord (5–29%)
Palpitations	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Anterior hypopituitarism	Sageli (30–79%)
Decreased parathyroid hormone secretion	Mõnikord (5–29%)
Delayed puberty	Mõnikord (5–29%)
Hypergonadotropic hypogonadism	Mõnikord (5–29%)
Hypogonadotropic hypogonadism	Mõnikord (5–29%)
Enlarged thyroid gland in neck	Harva (1–4%)
Overactive thyroid	Harva (1–4%)
Underactive thyroid	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Limb muscle weakness	Väga sageli (80–99%)
Abnormality of the hand	Sageli (30–79%)
Areflexia of lower limbs	Sageli (30–79%)
Foot drop	Sageli (30–79%)
Quadriceps weakness	Sageli (30–79%)
Weak shoulder muscles	Sageli (30–79%)
Absent ankle reflexes	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormality of the extraocular muscles	Sageli (30–79%)
Bell's palsy	Sageli (30–79%)
Decreased facial expressions	Sageli (30–79%)
High palate	Sageli (30–79%)
Weakness of facial musculature	Sageli (30–79%)
Facial diplegia	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Abnormality of the mitochondrion	Sageli (30–79%)
Abnormal cell morphology	Mõnikord (5–29%)
Decreased activity of mitochondrial complex IV	Mõnikord (5–29%)
Multiple mitochondrial DNA deletions	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Proximal tubulopathy	Alati
Stage 5 chronic kidney disease	Sageli (30–79%)
Chronic kidney disease	Mõnikord (5–29%)
Nocturia	Harva (1–4%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Väga sageli (80–99%)
Exercise-induced muscle pain	Sageli (30–79%)
Fatigue	Sageli (30–79%)
Muscle ache	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Wasting syndrome	Väga sageli (80–99%)
Weight loss	Sageli (30–79%)
Faltering weight	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Bilateral sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Mõnikord (5–29%)
Exertional breathlessness	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Inability to produce voice sounds	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga RRM2B seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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