특성

RYR1 연관 특성

ryanodine receptor 1

인간 표현형 온톨로지가 RYR1에 연결하는 특성은 213개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the nervous system

특성	나타나는 빈도
Delayed ability to walk	항상
Motor delay	항상
Abnormality of the nervous system	매우 자주 (80–99%)
Decreased reflex response	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Absent reflexes	자주 (30–79%)
Delayed motor skills	자주 (30–79%)
Headache	자주 (30–79%)
Twitching	자주 (30–79%)
Waddling gait	자주 (30–79%)
Ataxia	가끔 (5–29%)
Bulbar signs	가끔 (5–29%)
Confusion	가끔 (5–29%)
Delayed speech and language development	가끔 (5–29%)
Delirium	가끔 (5–29%)
Difficulty articulating speech	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Intellectual disability, mild	가끔 (5–29%)
Lethargy	가끔 (5–29%)
Muscle twitch	가끔 (5–29%)
Peripheral axonal neuropathy	가끔 (5–29%)
Hepatic encephalopathy	드물게 (1–4%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Hole in heart wall separating two lower heart chambers	항상
Abnormal pulse pressure	자주 (30–79%)
Mitral valve prolapse	자주 (30–79%)
Sinus tachycardia	자주 (30–79%)
Supraventricular tachycardia	자주 (30–79%)
Ventricular tachycardia	자주 (30–79%)
Abnormal heart valve morphology	가끔 (5–29%)
Abnormal T-wave	가끔 (5–29%)
Collection of dilated blood vessels that forms mass	가끔 (5–29%)
Extra heart beat	가끔 (5–29%)
High-output congestive heart failure	가끔 (5–29%)
Left ventricular hypertrophy	가끔 (5–29%)
Low blood pressure	가끔 (5–29%)
Prolonged QT interval	가끔 (5–29%)
ST segment depression	가끔 (5–29%)
Elevated heart rate	기록되지 않음

Laboratory abnormality

특성	나타나는 빈도
Malignant hyperthermia	매우 자주 (80–99%)
Elevated blood creatine phosphokinase	자주 (30–79%)
Fever	자주 (30–79%)
High blood phosphate levels	자주 (30–79%)
Metabolic acidosis	자주 (30–79%)
Mildly elevated creatine kinase	자주 (30–79%)
Abnormal levels of creatine kinase in blood	가끔 (5–29%)
Elevated creatine kinase after exercise	가끔 (5–29%)
Fluid retention	가끔 (5–29%)
Increased circulating potassium concentration	가끔 (5–29%)
Increased lactate in body	가끔 (5–29%)
Low blood calcium levels	가끔 (5–29%)
Myoglobinuria	가끔 (5–29%)
Hydrops fetalis	기록되지 않음
Mixed respiratory and metabolic acidosis	기록되지 않음

Abnormality of the respiratory system

특성	나타나는 빈도
Respiratory function loss	항상
Functional respiratory abnormality	자주 (30–79%)
High blood carbon dioxide level	자주 (30–79%)
Increased respiratory rate or depth of breathing	자주 (30–79%)
Crackles	가끔 (5–29%)
Neonatal asphyxia	가끔 (5–29%)
Reduced carbon dioxide in the blood	가끔 (5–29%)
Respiratory failure	가끔 (5–29%)
Neonatal respiratory distress	드물게 (1–4%)
Poorly developed lungs	기록되지 않음

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	항상
Feeding difficulties in infancy	자주 (30–79%)
Nausea	자주 (30–79%)
Acute liver failure	가끔 (5–29%)
Decreased liver function	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)
Vomiting	가끔 (5–29%)
Liver failure	드물게 (1–4%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Bilateral cryptorchidism	항상
Undescended testes	자주 (30–79%)
Acute kidney injury	가끔 (5–29%)
Loss of bladder control	가끔 (5–29%)
Oliguria	가끔 (5–29%)
Short penis	가끔 (5–29%)
Smaller than typical growth of scrotum	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Drooping of both upper eyelids	항상
Drooping upper eyelid	매우 자주 (80–99%)
Wide-set eyes	매우 자주 (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	자주 (30–79%)
Eye muscle paralysis	가끔 (5–29%)
Weakness of muscles controlling eye movement	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Abnormality of the coagulation cascade	가끔 (5–29%)
Bleeding tendency	가끔 (5–29%)
Disseminated intravascular coagulation	드물게 (1–4%)
Low platelet count	드물게 (1–4%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Feet or buttocks of fetus positioned near opening of uterus	항상
Less than 10 fetal movements in 12 hours	항상
High levels of amniotic fluid	자주 (30–79%)
Fetal akinesia sequence	드물게 (1–4%)

Abnormality of the integument

특성	나타나는 빈도
Thickened skin	자주 (30–79%)
Flushing	가끔 (5–29%)
Dry skin	드물게 (1–4%)
Lack of sweating	드물게 (1–4%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	항상
Birth weight > 90th percentile	자주 (30–79%)
Short stature	자주 (30–79%)
Severe growth delay in children	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Dizziness	자주 (30–79%)
Low-set ears	자주 (30–79%)
Prominent ear	가끔 (5–29%)

Abnormal cellular phenotype

특성	나타나는 빈도
Nemaline bodies	항상
Cardiomyocyte mitochondrial proliferation	자주 (30–79%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)
Pneumonia	가끔 (5–29%)

Abnormality of the voice

특성	나타나는 빈도
Weak cry	자주 (30–79%)
Inability to produce voice sounds	가끔 (5–29%)

Constitutional symptom

특성	나타나는 빈도
Fatigue	자주 (30–79%)
Exercise-induced muscle pain	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: RYR1에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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