Trăsături

Trăsături asociate cu FLNC

filamin C

Human Phenotype Ontology asociază 91 trăsături cu FLNC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal left ventricular function	Foarte des (80–99%)
Left ventricular systolic dysfunction	Foarte des (80–99%)
Stretched and thinned heart muscle	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Cardiac failure	Des (30–79%)
Interstitial cardiac fibrosis	Des (30–79%)
Left atrial enlargement	Des (30–79%)
Pulmonary venous hypertension	Des (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Des (30–79%)
Right atrial enlargement	Des (30–79%)
Abnormality of the cardiovascular system	Uneori (5–29%)
Complete right bundle branch block	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Uneori (5–29%)
Left bundle branch block	Uneori (5–29%)
Left ventricular diastolic dysfunction	Uneori (5–29%)
Left ventricular hypertrophy	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Permanent atrial fibrillation	Uneori (5–29%)
Prolonged QTc interval	Uneori (5–29%)
Stroke	Uneori (5–29%)
Sudden cardiac death	Uneori (5–29%)
Supraventricular arrhythmia	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Fainting spell	Rar (1–4%)
Left anterior fascicular block	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
EMG: myopathic abnormalities	Foarte des (80–99%)
Back pain	Des (30–79%)
Difficulty running	Des (30–79%)
Difficulty walking up stairs	Des (30–79%)
Muscle fiber splitting	Des (30–79%)
EMG abnormality	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Fatty replacement of skeletal muscle	Uneori (5–29%)
Joint contracture	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Neck flexion weakness	Rar (1–4%)
Decreased lung function due to weak breathing muscles	Neînregistrat
Distal lower limb amyotrophy	Neînregistrat
Muscle degeneration	Neînregistrat
Muscle weakness	Neînregistrat
Myofibrillar myopathy	Neînregistrat
Proximal neurogenic muscle weakness	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hyporeflexia of lower limbs	Foarte des (80–99%)
Intrinsic hand muscle atrophy	Foarte des (80–99%)
Proximal lower limb muscle weakness	Foarte des (80–99%)
Distal lower limb muscle weakness	Des (30–79%)
Finger flexor weakness	Des (30–79%)
Foot drop	Des (30–79%)
Hip flexor weakness	Des (30–79%)
Limited knee flexion	Des (30–79%)
Decreased finger mobility	Uneori (5–29%)
Distal upper limb muscle weakness	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)
Abnormal calf muscles	Neînregistrat
Distal upper limb amyotrophy	Neînregistrat
Thenar muscle weakness	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Inability to walk	Foarte des (80–99%)
Abnormality of balance	Des (30–79%)
Abnormality of peripheral nervous system electrophysiology	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Abnormal peripheral nervous system structure	Neînregistrat
Decreased reflex response	Neînregistrat
Somatic sensory dysfunction	Neînregistrat
Waddling gait	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Mildly elevated creatine kinase	Foarte des (80–99%)
Fluid retention	Des (30–79%)
Excess fluid in lungs	Uneori (5–29%)
Peripheral edema	Uneori (5–29%)
Extremely elevated creatine kinase	Rar (1–4%)
Elevated blood creatine phosphokinase	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Orthopnea	Des (30–79%)
Respiratory function loss	Des (30–79%)
Breathing difficulty	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Exercise-induced muscle pain	Foarte des (80–99%)
Fatigue	Des (30–79%)
Muscle ache	Rar (1–4%)

Abnormality of blood and blood-forming tissues

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Weakness of facial musculature	Uneori (5–29%)
Abnormality of masticatory muscle	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Uneori (5–29%)
Poor swallowing	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Muscle fiber cytoplasmatic inclusion bodies	Neînregistrat

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%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	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 FLNC și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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