Trăsături

Trăsături asociate cu MYPN

myopalladin

Human Phenotype Ontology asociază 108 trăsături cu MYPN, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MYPN

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle weakness	Întotdeauna
Type 1 muscle fiber predominance	Întotdeauna
EMG: myopathic abnormalities	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Abnormal muscle fiber morphology	Des (30–79%)
Generalized muscle wasting	Des (30–79%)
Increased variability in muscle fiber diameter	Des (30–79%)
Muscle stiffness	Des (30–79%)
Reduced spine movement	Des (30–79%)
Decreased lung function due to weak breathing muscles	Uneori (5–29%)
Difficulty running	Uneori (5–29%)
Difficulty walking up stairs	Uneori (5–29%)
Diffuse skeletal muscle wasting	Uneori (5–29%)
EMG abnormality	Uneori (5–29%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Fatigable weakness of bulbar muscles	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Gowers sign	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Lower limb amyotrophy	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Neck muscle weakness	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Thoracic scoliosis	Uneori (5–29%)
Tired easily	Uneori (5–29%)
Arthrogryposis multiplex congenita	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Stretched and thinned heart muscle	Întotdeauna
Abnormal left ventricular function	Foarte des (80–99%)
Increased left ventricular end-diastolic volume	Foarte des (80–99%)
Left ventricular systolic dysfunction	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Cardiac failure	Des (30–79%)
Disease of the heart muscle	Des (30–79%)
Interstitial cardiac fibrosis	Des (30–79%)
Left atrial enlargement	Des (30–79%)
Pulmonary venous hypertension	Des (30–79%)
Right atrial enlargement	Des (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
First degree atrioventricular block	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Uneori (5–29%)
Reduced systolic function	Uneori (5–29%)
Sinus tachycardia	Uneori (5–29%)
Supraventricular arrhythmia	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Fainting spell	Rar (1–4%)
Stroke	Rar (1–4%)
Ventricular septal hypertrophy	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Des (30–79%)
Clumsiness	Des (30–79%)
Decreased reflex response	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Motor delay	Des (30–79%)
Slow movements	Des (30–79%)
Waddling gait	Des (30–79%)
Absent reflexes	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Toe walking	Uneori (5–29%)
Poor fine motor coordination	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Limb muscle weakness	Des (30–79%)
Club feet	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
High palate	Des (30–79%)
Long face	Des (30–79%)
Bell's palsy	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow face	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Orthopnea	Des (30–79%)
Reduced vital capacity	Des (30–79%)
Breathing difficulty	Uneori (5–29%)
Central hypoventilation	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fluid retention	Des (30–79%)
Increased muscle lipid content	Des (30–79%)
Excess fluid in lungs	Uneori (5–29%)
Mildly elevated creatine kinase	Uneori (5–29%)
Peripheral edema	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Uneori (5–29%)
Fetal akinesia sequence	Uneori (5–29%)
High levels of amniotic fluid	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Neuromuscular dysphagia	Des (30–79%)
Enlarged liver	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)
Thromboembolism	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Uneori (5–29%)
Drooping upper eyelid	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Decreased ability to exercise	Des (30–79%)
Fatigue	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Uneori (5–29%)
Slender build	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Nemaline bodies	Întotdeauna

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	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 MYPN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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