Özellikler

RYR1 ile ilişkili özellikler

ryanodine receptor 1

Human Phenotype Ontology, RYR1 ile ilişkili 213 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Broad nasal tip	Her zaman
Deep philtrum	Her zaman
High palate	Her zaman
Low hanging columella	Her zaman
Midface retrusion	Her zaman
Myopathic facies	Her zaman
Scaphocephaly	Her zaman
Weakness of facial musculature	Her zaman
Eye folds	Çok sık (%80–99)
Narrow forehead	Çok sık (%80–99)
Bell's palsy	Sık (%30–79)
Big head present at birth	Sık (%30–79)
Downward slanting of the opening between the eyelids	Sık (%30–79)
Receding chin	Sık (%30–79)
Short neck	Sık (%30–79)
Webbed neck	Sık (%30–79)
Abnormal facial shape	Bazen (%5–29)
Abnormality of masseter muscle	Bazen (%5–29)
Bifid uvula	Bazen (%5–29)
Facial diplegia	Bazen (%5–29)
Long face	Bazen (%5–29)
Long, narrow head	Bazen (%5–29)
Narrow face	Bazen (%5–29)
Narrow mouth	Bazen (%5–29)
Prominent forehead	Bazen (%5–29)
Tented mouth	Bazen (%5–29)
Wide nasal bridge	Bazen (%5–29)

Abnormality of limbs

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

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Delayed ability to walk	Her zaman
Motor delay	Her zaman
Abnormality of the nervous system	Çok sık (%80–99)
Decreased reflex response	Çok sık (%80–99)
Abnormal gait	Sık (%30–79)
Absent reflexes	Sık (%30–79)
Delayed motor skills	Sık (%30–79)
Headache	Sık (%30–79)
Twitching	Sık (%30–79)
Waddling gait	Sık (%30–79)
Ataxia	Bazen (%5–29)
Bulbar signs	Bazen (%5–29)
Confusion	Bazen (%5–29)
Delayed speech and language development	Bazen (%5–29)
Delirium	Bazen (%5–29)
Difficulty articulating speech	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
Intellectual disability, mild	Bazen (%5–29)
Lethargy	Bazen (%5–29)
Muscle twitch	Bazen (%5–29)
Peripheral axonal neuropathy	Bazen (%5–29)
Hepatic encephalopathy	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Hole in heart wall separating two lower heart chambers	Her zaman
Abnormal pulse pressure	Sık (%30–79)
Mitral valve prolapse	Sık (%30–79)
Sinus tachycardia	Sık (%30–79)
Supraventricular tachycardia	Sık (%30–79)
Ventricular tachycardia	Sık (%30–79)
Abnormal heart valve morphology	Bazen (%5–29)
Abnormal T-wave	Bazen (%5–29)
Collection of dilated blood vessels that forms mass	Bazen (%5–29)
Extra heart beat	Bazen (%5–29)
High-output congestive heart failure	Bazen (%5–29)
Left ventricular hypertrophy	Bazen (%5–29)
Low blood pressure	Bazen (%5–29)
Prolonged QT interval	Bazen (%5–29)
ST segment depression	Bazen (%5–29)
Elevated heart rate	Kaydedilmedi

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Malignant hyperthermia	Çok sık (%80–99)
Elevated blood creatine phosphokinase	Sık (%30–79)
Fever	Sık (%30–79)
High blood phosphate levels	Sık (%30–79)
Metabolic acidosis	Sık (%30–79)
Mildly elevated creatine kinase	Sık (%30–79)
Abnormal levels of creatine kinase in blood	Bazen (%5–29)
Elevated creatine kinase after exercise	Bazen (%5–29)
Fluid retention	Bazen (%5–29)
Increased circulating potassium concentration	Bazen (%5–29)
Increased lactate in body	Bazen (%5–29)
Low blood calcium levels	Bazen (%5–29)
Myoglobinuria	Bazen (%5–29)
Hydrops fetalis	Kaydedilmedi
Mixed respiratory and metabolic acidosis	Kaydedilmedi

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Respiratory function loss	Her zaman
Functional respiratory abnormality	Sık (%30–79)
High blood carbon dioxide level	Sık (%30–79)
Increased respiratory rate or depth of breathing	Sık (%30–79)
Crackles	Bazen (%5–29)
Neonatal asphyxia	Bazen (%5–29)
Reduced carbon dioxide in the blood	Bazen (%5–29)
Respiratory failure	Bazen (%5–29)
Neonatal respiratory distress	Seyrek (%1–4)
Poorly developed lungs	Kaydedilmedi

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Her zaman
Feeding difficulties in infancy	Sık (%30–79)
Nausea	Sık (%30–79)
Acute liver failure	Bazen (%5–29)
Decreased liver function	Bazen (%5–29)
Pyloric stenosis	Bazen (%5–29)
Vomiting	Bazen (%5–29)
Liver failure	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Bilateral cryptorchidism	Her zaman
Undescended testes	Sık (%30–79)
Acute kidney injury	Bazen (%5–29)
Loss of bladder control	Bazen (%5–29)
Oliguria	Bazen (%5–29)
Short penis	Bazen (%5–29)
Smaller than typical growth of scrotum	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Drooping of both upper eyelids	Her zaman
Drooping upper eyelid	Çok sık (%80–99)
Wide-set eyes	Çok sık (%80–99)
Paralysis or weakness of muscles within or surrounding outer part of eye	Sık (%30–79)
Eye muscle paralysis	Bazen (%5–29)
Weakness of muscles controlling eye movement	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Abnormality of the coagulation cascade	Bazen (%5–29)
Bleeding tendency	Bazen (%5–29)
Disseminated intravascular coagulation	Seyrek (%1–4)
Low platelet count	Seyrek (%1–4)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Feet or buttocks of fetus positioned near opening of uterus	Her zaman
Less than 10 fetal movements in 12 hours	Her zaman
High levels of amniotic fluid	Sık (%30–79)
Fetal akinesia sequence	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Thickened skin	Sık (%30–79)
Flushing	Bazen (%5–29)
Dry skin	Seyrek (%1–4)
Lack of sweating	Seyrek (%1–4)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Her zaman
Birth weight > 90th percentile	Sık (%30–79)
Short stature	Sık (%30–79)
Severe growth delay in children	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Dizziness	Sık (%30–79)
Low-set ears	Sık (%30–79)
Prominent ear	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Nemaline bodies	Her zaman
Cardiomyocyte mitochondrial proliferation	Sık (%30–79)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)
Pneumonia	Bazen (%5–29)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Weak cry	Sık (%30–79)
Inability to produce voice sounds	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Fatigue	Sık (%30–79)
Exercise-induced muscle pain	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: RYR1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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