Tratti

Tratti collegati a RYR1

ryanodine receptor 1

La Human Phenotype Ontology collega 213 tratti a RYR1, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Delayed ability to walk	Sempre
Motor delay	Sempre
Abnormality of the nervous system	Molto spesso (80–99%)
Decreased reflex response	Molto spesso (80–99%)
Abnormal gait	Spesso (30–79%)
Absent reflexes	Spesso (30–79%)
Delayed motor skills	Spesso (30–79%)
Headache	Spesso (30–79%)
Twitching	Spesso (30–79%)
Waddling gait	Spesso (30–79%)
Ataxia	A volte (5–29%)
Bulbar signs	A volte (5–29%)
Confusion	A volte (5–29%)
Delayed speech and language development	A volte (5–29%)
Delirium	A volte (5–29%)
Difficulty articulating speech	A volte (5–29%)
Epilepsy	A volte (5–29%)
Intellectual disability, mild	A volte (5–29%)
Lethargy	A volte (5–29%)
Muscle twitch	A volte (5–29%)
Peripheral axonal neuropathy	A volte (5–29%)
Hepatic encephalopathy	Raramente (1–4%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Hole in heart wall separating two lower heart chambers	Sempre
Abnormal pulse pressure	Spesso (30–79%)
Mitral valve prolapse	Spesso (30–79%)
Sinus tachycardia	Spesso (30–79%)
Supraventricular tachycardia	Spesso (30–79%)
Ventricular tachycardia	Spesso (30–79%)
Abnormal heart valve morphology	A volte (5–29%)
Abnormal T-wave	A volte (5–29%)
Collection of dilated blood vessels that forms mass	A volte (5–29%)
Extra heart beat	A volte (5–29%)
High-output congestive heart failure	A volte (5–29%)
Left ventricular hypertrophy	A volte (5–29%)
Low blood pressure	A volte (5–29%)
Prolonged QT interval	A volte (5–29%)
ST segment depression	A volte (5–29%)
Elevated heart rate	Non registrato

Laboratory abnormality

Tratto	Frequenza di osservazione
Malignant hyperthermia	Molto spesso (80–99%)
Elevated blood creatine phosphokinase	Spesso (30–79%)
Fever	Spesso (30–79%)
High blood phosphate levels	Spesso (30–79%)
Metabolic acidosis	Spesso (30–79%)
Mildly elevated creatine kinase	Spesso (30–79%)
Abnormal levels of creatine kinase in blood	A volte (5–29%)
Elevated creatine kinase after exercise	A volte (5–29%)
Fluid retention	A volte (5–29%)
Increased circulating potassium concentration	A volte (5–29%)
Increased lactate in body	A volte (5–29%)
Low blood calcium levels	A volte (5–29%)
Myoglobinuria	A volte (5–29%)
Hydrops fetalis	Non registrato
Mixed respiratory and metabolic acidosis	Non registrato

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Respiratory function loss	Sempre
Functional respiratory abnormality	Spesso (30–79%)
High blood carbon dioxide level	Spesso (30–79%)
Increased respiratory rate or depth of breathing	Spesso (30–79%)
Crackles	A volte (5–29%)
Neonatal asphyxia	A volte (5–29%)
Reduced carbon dioxide in the blood	A volte (5–29%)
Respiratory failure	A volte (5–29%)
Neonatal respiratory distress	Raramente (1–4%)
Poorly developed lungs	Non registrato

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Feeding difficulties	Sempre
Feeding difficulties in infancy	Spesso (30–79%)
Nausea	Spesso (30–79%)
Acute liver failure	A volte (5–29%)
Decreased liver function	A volte (5–29%)
Pyloric stenosis	A volte (5–29%)
Vomiting	A volte (5–29%)
Liver failure	Raramente (1–4%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Bilateral cryptorchidism	Sempre
Undescended testes	Spesso (30–79%)
Acute kidney injury	A volte (5–29%)
Loss of bladder control	A volte (5–29%)
Oliguria	A volte (5–29%)
Short penis	A volte (5–29%)
Smaller than typical growth of scrotum	A volte (5–29%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Drooping of both upper eyelids	Sempre
Drooping upper eyelid	Molto spesso (80–99%)
Wide-set eyes	Molto spesso (80–99%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Spesso (30–79%)
Eye muscle paralysis	A volte (5–29%)
Weakness of muscles controlling eye movement	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Abnormality of the coagulation cascade	A volte (5–29%)
Bleeding tendency	A volte (5–29%)
Disseminated intravascular coagulation	Raramente (1–4%)
Low platelet count	Raramente (1–4%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Feet or buttocks of fetus positioned near opening of uterus	Sempre
Less than 10 fetal movements in 12 hours	Sempre
High levels of amniotic fluid	Spesso (30–79%)
Fetal akinesia sequence	Raramente (1–4%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Thickened skin	Spesso (30–79%)
Flushing	A volte (5–29%)
Dry skin	Raramente (1–4%)
Lack of sweating	Raramente (1–4%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Sempre
Birth weight > 90th percentile	Spesso (30–79%)
Short stature	Spesso (30–79%)
Severe growth delay in children	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Dizziness	Spesso (30–79%)
Low-set ears	Spesso (30–79%)
Prominent ear	A volte (5–29%)

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Nemaline bodies	Sempre
Cardiomyocyte mitochondrial proliferation	Spesso (30–79%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Recurrent respiratory infections	Spesso (30–79%)
Pneumonia	A volte (5–29%)

Abnormality of the voice

Tratto	Frequenza di osservazione
Weak cry	Spesso (30–79%)
Inability to produce voice sounds	A volte (5–29%)

Constitutional symptom

Tratto	Frequenza di osservazione
Fatigue	Spesso (30–79%)
Exercise-induced muscle pain	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a RYR1 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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