Özellikler

RRM2B ile ilişkili özellikler

ribonucleotide reductase regulatory TP53 inducible subunit M2B

Human Phenotype Ontology, RRM2B ile ilişkili 181 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

RRM2B

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

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

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Progressive external ophthalmoplegia	Her zaman
Rod-cone dystrophy	Her zaman
Visual impairment	Her zaman
Drooping upper eyelid	Çok sık (%80–99)
Paralysis or weakness of muscles within or surrounding outer part of eye	Çok sık (%80–99)
Pigmentary retinopathy	Çok sık (%80–99)
Abnormality of eye movement	Sık (%30–79)
Drooping of both upper eyelids	Sık (%30–79)
Eye muscle paralysis	Sık (%30–79)
Weakness of muscles controlling eye movement	Sık (%30–79)
Clouding of the lens of the eye	Bazen (%5–29)
Glaucoma	Bazen (%5–29)
Inward turning cross eyed	Bazen (%5–29)
Loss of peripheral vision	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)
Optic disc pallor	Bazen (%5–29)
Spicular pigmentation of the retina	Bazen (%5–29)
Cerebral visual impairment	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Abdominal bloating	Çok sık (%80–99)
Abdominal pain	Çok sık (%80–99)
Acid reflux	Çok sık (%80–99)
Atrophic muscularis propria	Çok sık (%80–99)
Gastrointestinal dysmotility	Çok sık (%80–99)
Nausea	Çok sık (%80–99)
Poor appetite	Çok sık (%80–99)
Poor swallowing	Çok sık (%80–99)
Small intestinal dysmotility	Çok sık (%80–99)
Vomiting	Çok sık (%80–99)
Abnormality of the gastrointestinal tract	Sık (%30–79)
Diarrhea	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Constipation	Bazen (%5–29)
Delayed gastric emptying	Bazen (%5–29)
Scar tissue replaces healthy tissue in the liver	Bazen (%5–29)
Abnormality of the liver	Seyrek (%1–4)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Increased lactate in body	Her zaman
Renal Fanconi syndrome	Her zaman
High liver enzymes	Sık (%30–79)
Increased blood alanine	Sık (%30–79)
Increased CSF protein concentration	Sık (%30–79)
Accumulation of acid in body due to kidney problem	Bazen (%5–29)
Diabetes mellitus	Bazen (%5–29)
Elevated blood creatine phosphokinase	Bazen (%5–29)
Glucose in urine	Bazen (%5–29)
Glucose intolerance	Bazen (%5–29)
Higher than normal levels of lactate in blood	Bazen (%5–29)
Increased CSF lactate	Bazen (%5–29)
Macrovesicular hepatic steatosis	Bazen (%5–29)
Severe lactic acidosis	Bazen (%5–29)
Fluid retention	Seyrek (%1–4)
High levels of ketone bodies	Seyrek (%1–4)
Abnormal urinary amino-acid findings	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Complete heart block	Çok sık (%80–99)
Abnormal atrioventricular conduction	Bazen (%5–29)
Abnormal heart rate	Bazen (%5–29)
Disease of the heart muscle	Bazen (%5–29)
Left ventricular hypertrophy	Bazen (%5–29)
Quivering upper heart chambers resulting in irregular heartbeat	Bazen (%5–29)
Reduced left ventricular ejection fraction	Bazen (%5–29)
Stretched and thinned heart muscle	Bazen (%5–29)
Ventricular arrhythmia	Bazen (%5–29)
Palpitations	Seyrek (%1–4)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Anterior hypopituitarism	Sık (%30–79)
Decreased parathyroid hormone secretion	Bazen (%5–29)
Delayed puberty	Bazen (%5–29)
Hypergonadotropic hypogonadism	Bazen (%5–29)
Hypogonadotropic hypogonadism	Bazen (%5–29)
Enlarged thyroid gland in neck	Seyrek (%1–4)
Overactive thyroid	Seyrek (%1–4)
Underactive thyroid	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Limb muscle weakness	Çok sık (%80–99)
Abnormality of the hand	Sık (%30–79)
Areflexia of lower limbs	Sık (%30–79)
Foot drop	Sık (%30–79)
Quadriceps weakness	Sık (%30–79)
Weak shoulder muscles	Sık (%30–79)
Absent ankle reflexes	Seyrek (%1–4)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Abnormality of the extraocular muscles	Sık (%30–79)
Bell's palsy	Sık (%30–79)
Decreased facial expressions	Sık (%30–79)
High palate	Sık (%30–79)
Weakness of facial musculature	Sık (%30–79)
Facial diplegia	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Abnormality of the mitochondrion	Sık (%30–79)
Abnormal cell morphology	Bazen (%5–29)
Decreased activity of mitochondrial complex IV	Bazen (%5–29)
Multiple mitochondrial DNA deletions	Kaydedilmedi

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Proximal tubulopathy	Her zaman
Stage 5 chronic kidney disease	Sık (%30–79)
Chronic kidney disease	Bazen (%5–29)
Nocturia	Seyrek (%1–4)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Decreased ability to exercise	Çok sık (%80–99)
Exercise-induced muscle pain	Sık (%30–79)
Fatigue	Sık (%30–79)
Muscle ache	Sık (%30–79)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Wasting syndrome	Çok sık (%80–99)
Weight loss	Sık (%30–79)
Faltering weight	Bazen (%5–29)
Short stature	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Hearing impairment	Sık (%30–79)
Sensorineural hearing impairment	Sık (%30–79)
Bilateral sensorineural hearing impairment	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Breathing difficulties	Bazen (%5–29)
Exertional breathlessness	Bazen (%5–29)
Respiratory function loss	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Low number of red blood cells or hemoglobin	Bazen (%5–29)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Inability to produce voice sounds	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: RRM2B ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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