Požymiai

Su RYR1 susiję požymiai

ryanodine receptor 1

Žmogaus fenotipo ontologija sieja 213 požymių su RYR1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Central core regions in muscle fibers	Visada
Centrally nucleated skeletal muscle fibers	Visada
Generalized muscle weakness	Visada
Increased variability in muscle fiber diameter	Visada
Kyphoscoliosis	Visada
Low muscle tone, in neonatal onset	Visada
Minicore myopathy	Visada
Muscle degeneration	Visada
Muscle fiber degeneration	Visada
Muscle weakness	Visada
Proximal neurogenic muscle weakness	Visada
Scoliosis	Visada
Thoracic kyphosis	Visada
Excessive inward curvature of lower spine	Labai dažnai (80–99%)
Fatigable weakness	Labai dažnai (80–99%)
Generalized decreased muscle tone	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Abnormally shaped muscle	Dažnai (30–79%)
Axial muscle weakness	Dažnai (30–79%)
Difficulty running	Dažnai (30–79%)
Difficulty walking up stairs	Dažnai (30–79%)
Diffuse skeletal muscle wasting	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
EMG: myopathic abnormalities	Dažnai (30–79%)
Gowers sign	Dažnai (30–79%)
Hypertrophied muscle fibers	Dažnai (30–79%)
Increased connective tissue	Dažnai (30–79%)
Intermittent painful muscle spasms	Dažnai (30–79%)
Internally nucleated skeletal muscle fibers	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Multiple joint contractures	Dažnai (30–79%)
Muscle stiffness	Dažnai (30–79%)
Muscle tissue disease	Dažnai (30–79%)
Muscular dystrophy	Dažnai (30–79%)
Progressive muscle weakness	Dažnai (30–79%)
Thin ribs	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Type 1 muscle fiber atrophy	Dažnai (30–79%)
Type 1 muscle fiber predominance	Dažnai (30–79%)
Acute rhabdomyolysis	Kartais (5–29%)
Decreased lung function due to weak breathing muscles	Kartais (5–29%)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Kartais (5–29%)
Exercise-induced muscle cramps	Kartais (5–29%)
Exercise-induced rhabdomyolysis	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Frog-leg posture	Kartais (5–29%)
Necrotizing myopathy	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Sternocleidomastoid amyotrophy	Kartais (5–29%)
Tibialis anterior muscle atrophy	Kartais (5–29%)
Breakdown of skeletal muscle	Retai (1–4 %)
Rigidity	Neužfiksuota
Type 1 and type 2 muscle fiber minicore regions	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Broad nasal tip	Visada
Deep philtrum	Visada
High palate	Visada
Low hanging columella	Visada
Midface retrusion	Visada
Myopathic facies	Visada
Scaphocephaly	Visada
Weakness of facial musculature	Visada
Eye folds	Labai dažnai (80–99%)
Narrow forehead	Labai dažnai (80–99%)
Bell's palsy	Dažnai (30–79%)
Big head present at birth	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Webbed neck	Dažnai (30–79%)
Abnormal facial shape	Kartais (5–29%)
Abnormality of masseter muscle	Kartais (5–29%)
Bifid uvula	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
Long face	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Narrow face	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Tented mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormal foot muscles	Dažnai (30–79%)
Ankle flexion contracture	Dažnai (30–79%)
Club feet	Dažnai (30–79%)
Dislocated hip since birth	Dažnai (30–79%)
Distal upper limb muscle weakness	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Hyporeflexia of upper limbs	Dažnai (30–79%)
Intrinsic hand muscle atrophy	Dažnai (30–79%)
Pelvic girdle muscle weakness	Dažnai (30–79%)
Proximal lower limb muscle weakness	Dažnai (30–79%)
Proximal upper limb muscle weakness	Dažnai (30–79%)
Winged shoulder blade	Dažnai (30–79%)
Areflexia of lower limbs	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip contracture	Kartais (5–29%)
Increased size of calf muscles	Kartais (5–29%)
Knee dislocation	Kartais (5–29%)
Long fingers	Kartais (5–29%)
Rectus femoris muscle atrophy	Kartais (5–29%)
Recurrent patellar dislocation	Kartais (5–29%)
Talipes	Kartais (5–29%)
Weak shoulder muscles	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed ability to walk	Visada
Motor delay	Visada
Abnormality of the nervous system	Labai dažnai (80–99%)
Decreased reflex response	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Absent reflexes	Dažnai (30–79%)
Delayed motor skills	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Twitching	Dažnai (30–79%)
Waddling gait	Dažnai (30–79%)
Ataxia	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Confusion	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Delirium	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Lethargy	Kartais (5–29%)
Muscle twitch	Kartais (5–29%)
Peripheral axonal neuropathy	Kartais (5–29%)
Hepatic encephalopathy	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Hole in heart wall separating two lower heart chambers	Visada
Abnormal pulse pressure	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Sinus tachycardia	Dažnai (30–79%)
Supraventricular tachycardia	Dažnai (30–79%)
Ventricular tachycardia	Dažnai (30–79%)
Abnormal heart valve morphology	Kartais (5–29%)
Abnormal T-wave	Kartais (5–29%)
Collection of dilated blood vessels that forms mass	Kartais (5–29%)
Extra heart beat	Kartais (5–29%)
High-output congestive heart failure	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Low blood pressure	Kartais (5–29%)
Prolonged QT interval	Kartais (5–29%)
ST segment depression	Kartais (5–29%)
Elevated heart rate	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Malignant hyperthermia	Labai dažnai (80–99%)
Elevated blood creatine phosphokinase	Dažnai (30–79%)
Fever	Dažnai (30–79%)
High blood phosphate levels	Dažnai (30–79%)
Metabolic acidosis	Dažnai (30–79%)
Mildly elevated creatine kinase	Dažnai (30–79%)
Abnormal levels of creatine kinase in blood	Kartais (5–29%)
Elevated creatine kinase after exercise	Kartais (5–29%)
Fluid retention	Kartais (5–29%)
Increased circulating potassium concentration	Kartais (5–29%)
Increased lactate in body	Kartais (5–29%)
Low blood calcium levels	Kartais (5–29%)
Myoglobinuria	Kartais (5–29%)
Hydrops fetalis	Neužfiksuota
Mixed respiratory and metabolic acidosis	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory function loss	Visada
Functional respiratory abnormality	Dažnai (30–79%)
High blood carbon dioxide level	Dažnai (30–79%)
Increased respiratory rate or depth of breathing	Dažnai (30–79%)
Crackles	Kartais (5–29%)
Neonatal asphyxia	Kartais (5–29%)
Reduced carbon dioxide in the blood	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)
Neonatal respiratory distress	Retai (1–4 %)
Poorly developed lungs	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Feeding difficulties in infancy	Dažnai (30–79%)
Nausea	Dažnai (30–79%)
Acute liver failure	Kartais (5–29%)
Decreased liver function	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Vomiting	Kartais (5–29%)
Liver failure	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Visada
Undescended testes	Dažnai (30–79%)
Acute kidney injury	Kartais (5–29%)
Loss of bladder control	Kartais (5–29%)
Oliguria	Kartais (5–29%)
Short penis	Kartais (5–29%)
Smaller than typical growth of scrotum	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping of both upper eyelids	Visada
Drooping upper eyelid	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Dažnai (30–79%)
Eye muscle paralysis	Kartais (5–29%)
Weakness of muscles controlling eye movement	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormality of the coagulation cascade	Kartais (5–29%)
Bleeding tendency	Kartais (5–29%)
Disseminated intravascular coagulation	Retai (1–4 %)
Low platelet count	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Visada
Less than 10 fetal movements in 12 hours	Visada
High levels of amniotic fluid	Dažnai (30–79%)
Fetal akinesia sequence	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Thickened skin	Dažnai (30–79%)
Flushing	Kartais (5–29%)
Dry skin	Retai (1–4 %)
Lack of sweating	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Birth weight > 90th percentile	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Severe growth delay in children	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Prominent ear	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Nemaline bodies	Visada
Cardiomyocyte mitochondrial proliferation	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)
Pneumonia	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak cry	Dažnai (30–79%)
Inability to produce voice sounds	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Exercise-induced muscle pain	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su RYR1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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