Özellikler

SCN4A ile ilişkili özellikler

sodium voltage-gated channel alpha subunit 4

Human Phenotype Ontology, SCN4A ile ilişkili 183 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Axial muscle weakness	Her zaman
Centrally nucleated skeletal muscle fibers	Her zaman
Difficulty walking up stairs	Her zaman
Diffuse skeletal muscle wasting	Her zaman
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Her zaman
EMG: myotonic discharges	Her zaman
Episodic flaccid weakness	Her zaman
Fatigable weakness	Her zaman
Generalized muscle weakness	Her zaman
Handgrip myotonia	Her zaman
Increased skeletal muscle cells	Her zaman
Increased variability in muscle fiber diameter	Her zaman
Low muscle tone	Her zaman
Lower limb pain	Her zaman
Muscle spasm	Her zaman
Muscle stiffness	Her zaman
Muscle tissue disease	Her zaman
Myotonia	Her zaman
Osteoporosis	Her zaman
Percussion myotonia	Her zaman
Prominent swayback	Her zaman
Tired easily	Her zaman
Abnormal muscle fiber morphology	Çok sık (%80–99)
EMG abnormality	Çok sık (%80–99)
Low muscle tone, in neonatal onset	Çok sık (%80–99)
Spasticity and rigidity of muscles	Çok sık (%80–99)
Cold paresis	Sık (%30–79)
Cold-sensitive myotonia	Sık (%30–79)
Exercise-induced muscle fatigue	Sık (%30–79)
Exercise-induced muscle stiffness	Sık (%30–79)
Funnel chest	Sık (%30–79)
Gowers sign	Sık (%30–79)
Limb contractures	Sık (%30–79)
Muscle degeneration	Sık (%30–79)
Muscle weakness	Sık (%30–79)
Myotonia of the face	Sık (%30–79)
Myotonia of the jaw	Sık (%30–79)
Myotonia of the lower limb	Sık (%30–79)
Myotonia of the upper limb	Sık (%30–79)
Paradoxical myotonia	Sık (%30–79)
Poorly developed skeletal musculature	Sık (%30–79)
Scoliosis	Sık (%30–79)
Decreased lung function due to weak breathing muscles	Bazen (%5–29)
EMG: myopathic abnormalities	Bazen (%5–29)
Fatty replacement of skeletal muscle	Bazen (%5–29)
Flexed joint that cannot be straightened	Bazen (%5–29)
Frequent falls	Bazen (%5–29)
Generalized decreased muscle tone	Bazen (%5–29)
Generalized increase in muscle cell size	Bazen (%5–29)
Hunched back	Bazen (%5–29)
Late-onset proximal muscle weakness	Bazen (%5–29)
Limitation of joint mobility	Bazen (%5–29)
Reduced spine movement	Bazen (%5–29)
Shoulder flexion contracture	Bazen (%5–29)
Slender long bone	Bazen (%5–29)
Small chest	Bazen (%5–29)
Thin ribs	Bazen (%5–29)
Thoracic scoliosis	Bazen (%5–29)
Fatigable weakness of respiratory muscles	Seyrek (%1–4)
Myotonia with warm-up phenomenon	Seyrek (%1–4)
Proximal neurogenic muscle weakness	Seyrek (%1–4)
Respiratory paralysis	Seyrek (%1–4)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Downward slanting of the opening between the eyelids	Her zaman
High forehead	Her zaman
High palate	Her zaman
Open mouth	Her zaman
Scaphocephaly	Her zaman
Short neck	Her zaman
Weakness of facial musculature	Çok sık (%80–99)
Frontal bossing	Sık (%30–79)
Increased size of facial muscles	Sık (%30–79)
Increased stiffness of facial muscles	Sık (%30–79)
Little lower jaw	Sık (%30–79)
Long face	Sık (%30–79)
Dental crowding	Bazen (%5–29)
Eye folds	Bazen (%5–29)
Monobrow	Bazen (%5–29)
Receding chin	Bazen (%5–29)
Short nose	Bazen (%5–29)
Short philtrum	Bazen (%5–29)
Tented mouth	Bazen (%5–29)
Triangular mouth	Bazen (%5–29)
Wide nasal bridge	Bazen (%5–29)

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Abnormal gait	Her zaman
Absent reflexes	Her zaman
Motor delay	Her zaman
Normal pressure hydrocephalus	Her zaman
Paralysis	Her zaman
Periodic hypokalemic paresis	Her zaman
Periodic paralysis	Her zaman
Cerebral palsy	Çok sık (%80–99)
Diminished deep tendon reflex	Çok sık (%80–99)
Periodic hyperkalemic paralysis	Çok sık (%80–99)
Communication delay	Sık (%30–79)
Muscle twitch	Sık (%30–79)
Waddling gait	Sık (%30–79)
Intellectual disability	Bazen (%5–29)
Leukoencephalopathy	Bazen (%5–29)
Pins and needles feeling	Bazen (%5–29)
Choking episodes	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Club foot on both sides	Her zaman
Curvature of digit	Her zaman
Dislocated hip since birth	Her zaman
High-arched foot	Her zaman
Hyporeflexia of lower limbs	Her zaman
Limb muscle weakness	Her zaman
Proximal lower limb muscle weakness	Her zaman
Hip contracture	Sık (%30–79)
Talipes	Sık (%30–79)
Congenital finger flexion contractures	Bazen (%5–29)
Elbow flexion contracture	Bazen (%5–29)
Knee contracture	Bazen (%5–29)
Pes valgus	Bazen (%5–29)
Shortening of the achilles tendon	Bazen (%5–29)
Tapered toe	Bazen (%5–29)
Winged shoulder blade	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Low blood potassium levels	Her zaman
Mildly elevated creatine kinase	Her zaman
Recurrent low potassium	Her zaman
Elevated blood creatine phosphokinase	Çok sık (%80–99)
Increased intramyocellular lipid droplets	Çok sık (%80–99)
Increased circulating potassium concentration	Sık (%30–79)
Nonimmune hydrops fetalis	Sık (%30–79)
Postprandial hyperglycemia	Sık (%30–79)
Abnormal circulating potassium concentration	Bazen (%5–29)
Fluid around lungs	Bazen (%5–29)
Low blood sodium levels	Bazen (%5–29)
Malignant hyperthermia	Bazen (%5–29)
Hyperkalemia while symptomatic	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Cross-eyed	Her zaman
Drooping of both upper eyelids	Her zaman
Drooping upper eyelid	Her zaman
Esodeviation	Her zaman
Involuntary, rapid, rhythmic eye movements	Her zaman
Paralysis or weakness of muscles within or surrounding outer part of eye	Her zaman
Eye muscle paralysis	Sık (%30–79)
Blurred vision	Bazen (%5–29)
Bulging eye	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Double vision	Bazen (%5–29)
Weakness of muscles controlling eye movement	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Apnea	Her zaman
Breathing difficulty	Her zaman
Noisy breathing	Her zaman
Respiratory function loss	Her zaman
Neonatal inspiratory stridor	Sık (%30–79)
Poorly developed lungs	Sık (%30–79)
Breathing difficulties	Bazen (%5–29)
Laryngospasm	Seyrek (%1–4)
Apneic episodes in infancy	Kaydedilmedi
Inspiratory stridor	Kaydedilmedi

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Accumulation of fluid in the abdomen	Bazen (%5–29)
Enlarged liver	Bazen (%5–29)
Feeding difficulties in infancy	Bazen (%5–29)
Loss of bowel control	Bazen (%5–29)
Tube feeding	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Slow heartbeats	Her zaman
Abnormal heart rate	Bazen (%5–29)
Cardiac failure	Bazen (%5–29)
Tricuspid regurgitation	Bazen (%5–29)
Impaired myocardial contractility	Kaydedilmedi

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Chest tightness	Her zaman
Fatigue	Her zaman
Muscle ache	Her zaman
Chest pain	Sık (%30–79)
Pain	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
High levels of amniotic fluid	Her zaman
Feet or buttocks of fetus positioned near opening of uterus	Sık (%30–79)
Less than 10 fetal movements in 12 hours	Sık (%30–79)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Nasal speech	Her zaman
Weak cry	Sık (%30–79)
Abnormality of the voice	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Underactive thyroid	Bazen (%5–29)
Adrenocortical adenoma	Seyrek (%1–4)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Sık (%30–79)
Asthma	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased activity of mitochondrial complex I	Her zaman

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Enlarged male breast	Her zaman

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Low-set ears	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Blue discoloration of the skin	Her zaman

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Short stature	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: SCN4A ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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