Trăsături

Trăsături asociate cu RYR1

ryanodine receptor 1

Human Phenotype Ontology asociază 213 trăsături cu RYR1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Motor delay	Întotdeauna
Abnormality of the nervous system	Foarte des (80–99%)
Decreased reflex response	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Absent reflexes	Des (30–79%)
Delayed motor skills	Des (30–79%)
Headache	Des (30–79%)
Twitching	Des (30–79%)
Waddling gait	Des (30–79%)
Ataxia	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Confusion	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Delirium	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Muscle twitch	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Hepatic encephalopathy	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Întotdeauna
Abnormal pulse pressure	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Sinus tachycardia	Des (30–79%)
Supraventricular tachycardia	Des (30–79%)
Ventricular tachycardia	Des (30–79%)
Abnormal heart valve morphology	Uneori (5–29%)
Abnormal T-wave	Uneori (5–29%)
Collection of dilated blood vessels that forms mass	Uneori (5–29%)
Extra heart beat	Uneori (5–29%)
High-output congestive heart failure	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Low blood pressure	Uneori (5–29%)
Prolonged QT interval	Uneori (5–29%)
ST segment depression	Uneori (5–29%)
Elevated heart rate	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Malignant hyperthermia	Foarte des (80–99%)
Elevated blood creatine phosphokinase	Des (30–79%)
Fever	Des (30–79%)
High blood phosphate levels	Des (30–79%)
Metabolic acidosis	Des (30–79%)
Mildly elevated creatine kinase	Des (30–79%)
Abnormal levels of creatine kinase in blood	Uneori (5–29%)
Elevated creatine kinase after exercise	Uneori (5–29%)
Fluid retention	Uneori (5–29%)
Increased circulating potassium concentration	Uneori (5–29%)
Increased lactate in body	Uneori (5–29%)
Low blood calcium levels	Uneori (5–29%)
Myoglobinuria	Uneori (5–29%)
Hydrops fetalis	Neînregistrat
Mixed respiratory and metabolic acidosis	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Întotdeauna
Functional respiratory abnormality	Des (30–79%)
High blood carbon dioxide level	Des (30–79%)
Increased respiratory rate or depth of breathing	Des (30–79%)
Crackles	Uneori (5–29%)
Neonatal asphyxia	Uneori (5–29%)
Reduced carbon dioxide in the blood	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Neonatal respiratory distress	Rar (1–4%)
Poorly developed lungs	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Feeding difficulties in infancy	Des (30–79%)
Nausea	Des (30–79%)
Acute liver failure	Uneori (5–29%)
Decreased liver function	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Vomiting	Uneori (5–29%)
Liver failure	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bilateral cryptorchidism	Întotdeauna
Undescended testes	Des (30–79%)
Acute kidney injury	Uneori (5–29%)
Loss of bladder control	Uneori (5–29%)
Oliguria	Uneori (5–29%)
Short penis	Uneori (5–29%)
Smaller than typical growth of scrotum	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping of both upper eyelids	Întotdeauna
Drooping upper eyelid	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Des (30–79%)
Eye muscle paralysis	Uneori (5–29%)
Weakness of muscles controlling eye movement	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of the coagulation cascade	Uneori (5–29%)
Bleeding tendency	Uneori (5–29%)
Disseminated intravascular coagulation	Rar (1–4%)
Low platelet count	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Întotdeauna
Less than 10 fetal movements in 12 hours	Întotdeauna
High levels of amniotic fluid	Des (30–79%)
Fetal akinesia sequence	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Thickened skin	Des (30–79%)
Flushing	Uneori (5–29%)
Dry skin	Rar (1–4%)
Lack of sweating	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Birth weight > 90th percentile	Des (30–79%)
Short stature	Des (30–79%)
Severe growth delay in children	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)
Low-set ears	Des (30–79%)
Prominent ear	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Nemaline bodies	Întotdeauna
Cardiomyocyte mitochondrial proliferation	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)
Pneumonia	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak cry	Des (30–79%)
Inability to produce voice sounds	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Exercise-induced muscle pain	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu RYR1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu