Traits

Traits linked to ACTA1

actin alpha 1, skeletal muscle

The Human Phenotype Ontology links 181 traits to ACTA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Abnormality of skeletal muscle fiber size	Her zaman
Generalized decreased muscle tone	Her zaman
Generalized muscle weakness	Her zaman
Increased connective tissue	Her zaman
Increased endomysial connective tissue	Her zaman
Increased variability in muscle fiber diameter	Her zaman
Joint contracture	Her zaman
Low muscle tone	Her zaman
Muscle degeneration	Her zaman
Neck flexion weakness	Her zaman
Poor head control	Her zaman
Type 1 muscle fiber predominance	Her zaman
Abnormally shaped skeletal	Çok sık (%80–99)
Autophagic vacuoles	Çok sık (%80–99)
Axial muscle weakness	Çok sık (%80–99)
Difficulty walking up stairs	Çok sık (%80–99)
EMG: myopathic abnormalities	Çok sık (%80–99)
Gowers sign	Çok sık (%80–99)
Handgrip myotonia	Çok sık (%80–99)
Low muscle tone, in neonatal onset	Çok sık (%80–99)
Muscle fiber splitting	Çok sık (%80–99)
Muscle tissue disease	Çok sık (%80–99)
Myofibrillar myopathy	Çok sık (%80–99)
Neck muscle weakness	Çok sık (%80–99)
Progressive muscle weakness	Çok sık (%80–99)
Proximal neurogenic muscle weakness	Çok sık (%80–99)
Reduced spine movement	Çok sık (%80–99)
Rimmed vacuoles	Çok sık (%80–99)
Scoliosis	Çok sık (%80–99)
Severely decreased muscle tone	Çok sık (%80–99)
Type 1 muscle fiber atrophy	Çok sık (%80–99)
Weakness of outermost muscles	Çok sık (%80–99)
Abnormality of the chest	Sık (%30–79)
Decreased lung function due to weak breathing muscles	Sık (%30–79)
Fatigable weakness of bulbar muscles	Sık (%30–79)
Fatigable weakness of distal limb muscles	Sık (%30–79)
Flexed joint that cannot be straightened	Sık (%30–79)
Generalized muscle wasting	Sık (%30–79)
Hamstring contractures	Sık (%30–79)
Multiple fractures present at birth	Sık (%30–79)
Muscle fiber necrosis	Sık (%30–79)
Muscle stiffness	Sık (%30–79)
Prominent swayback	Sık (%30–79)
Thoracic scoliosis	Sık (%30–79)
Tired easily	Sık (%30–79)
Weakness of muscles of respiration	Sık (%30–79)
Abnormality of the diaphragm	Bazen (%5–29)
Arthrogryposis multiplex congenita	Bazen (%5–29)
Fatigable weakness of respiratory muscles	Bazen (%5–29)
Fatiguable weakness of proximal limb muscles	Bazen (%5–29)
Funnel chest	Bazen (%5–29)
Kyphoscoliosis	Bazen (%5–29)
Muscle weakness between ribs	Bazen (%5–29)
Narrow chest	Bazen (%5–29)
Poorly developed skeletal musculature	Bazen (%5–29)
Rigidity	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)
Thin ribs	Bazen (%5–29)
Hunched back	Seyrek (%1–4)
Bulbar palsy	Kaydedilmedi
Centrally nucleated skeletal muscle fibers	Kaydedilmedi
EMG: neuropathic changes	Kaydedilmedi
Frequent falls	Kaydedilmedi
Late-onset distal muscle weakness	Kaydedilmedi

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Joint contracture of the hand	Her zaman
Limb-girdle muscular dystrophy	Çok sık (%80–99)
Winged shoulder blade	Çok sık (%80–99)
Wrist drop	Çok sık (%80–99)
Elbow flexion contracture	Sık (%30–79)
Foot drop	Sık (%30–79)
Hip contracture	Sık (%30–79)
Knee contracture	Sık (%30–79)
Limb muscle weakness	Sık (%30–79)
Limb-girdle muscle weakness	Sık (%30–79)
Ankle flexion contracture	Bazen (%5–29)
Club feet	Bazen (%5–29)
Dislocated hip since birth	Bazen (%5–29)
Flexion contracture of finger	Bazen (%5–29)
High-arched foot	Bazen (%5–29)
Hip dislocation	Bazen (%5–29)
Inability to straighten knee	Bazen (%5–29)
Inward turned thumb	Bazen (%5–29)
Knock knees	Bazen (%5–29)
Outward bow-leggedness	Bazen (%5–29)
Pelvic girdle muscle weakness	Bazen (%5–29)
Weak shoulder muscles	Bazen (%5–29)
Hand muscle degeneration	Kaydedilmedi
Shortening of the achilles tendon	Kaydedilmedi

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Absent reflexes	Her zaman
Delayed ability to sit	Her zaman
Global developmental delay	Çok sık (%80–99)
Waddling gait	Çok sık (%80–99)
Abnormal gait	Sık (%30–79)
Clumsiness	Sık (%30–79)
Decreased muscle movement	Sık (%30–79)
Decreased reflex response	Sık (%30–79)
Delayed ability to roll over	Sık (%30–79)
Diminished deep tendon reflex	Sık (%30–79)
Motor delay	Sık (%30–79)
Slow movements	Sık (%30–79)
Bulbar signs	Bazen (%5–29)
Difficulty sleeping	Bazen (%5–29)
Falls	Bazen (%5–29)
Headache	Bazen (%5–29)
Increased reflexes	Bazen (%5–29)
Tremor	Bazen (%5–29)
Poor fine motor coordination	Kaydedilmedi

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Expressionless face	Her zaman
Weakness of facial musculature	Her zaman
Bell's palsy	Çok sık (%80–99)
Wry neck	Çok sık (%80–99)
Big lower jaw	Sık (%30–79)
Dental crowding	Sık (%30–79)
High palate	Sık (%30–79)
Long face	Sık (%30–79)
Myopathic facies	Sık (%30–79)
Narrow face	Sık (%30–79)
Chewing difficulties	Bazen (%5–29)
Facial diplegia	Bazen (%5–29)
High, narrow palate	Bazen (%5–29)
Little lower jaw	Bazen (%5–29)
Long philtrum	Bazen (%5–29)
Short neck	Bazen (%5–29)
Wide fontanelles	Bazen (%5–29)
Receding chin	Kaydedilmedi

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Respiratory failure	Her zaman
Respiratory failure requiring assisted ventilation	Her zaman
Respiratory function loss	Her zaman
Abnormality of the respiratory system	Sık (%30–79)
Abnormality on pulmonary function testing	Sık (%30–79)
Breathing difficulties	Sık (%30–79)
High blood carbon dioxide level	Bazen (%5–29)
Low blood oxygen level	Bazen (%5–29)
Nocturnal hypoventilation	Bazen (%5–29)
Poorly developed lungs	Bazen (%5–29)
Reduced vital capacity	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties	Her zaman
Tube feeding	Her zaman
Poor swallowing	Çok sık (%80–99)
Gastrostomy tube feeding in infancy	Sık (%30–79)
Nasogastric tube feeding	Sık (%30–79)
Neuromuscular dysphagia	Sık (%30–79)
Poor appetite	Sık (%30–79)
Feeding difficulties in infancy	Bazen (%5–29)
Nasogastric tube feeding in infancy	Bazen (%5–29)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Cardiac conduction abnormality	Sık (%30–79)
Abnormality of the heart	Bazen (%5–29)
Cor pulmonale	Bazen (%5–29)
Disease of the heart muscle	Bazen (%5–29)
Enlarged heart	Bazen (%5–29)
Heart stops beating	Bazen (%5–29)
Slow heartbeats	Bazen (%5–29)
Stretched and thinned heart muscle	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Feet or buttocks of fetus positioned near opening of uterus	Her zaman
Less than 10 fetal movements in 12 hours	Çok sık (%80–99)
High levels of amniotic fluid	Sık (%30–79)
Fetal akinesia sequence	Bazen (%5–29)
Premature birth	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Chylothorax	Her zaman
Elevated blood creatine phosphokinase	Çok sık (%80–99)
Increased muscle lipid content	Sık (%30–79)
Edema of the dorsum of hands	Bazen (%5–29)
Mildly elevated creatine kinase	Bazen (%5–29)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Drooping upper eyelid	Bazen (%5–29)
Eye muscle paralysis	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Pneumonia	Sık (%30–79)
Aspiration pneumonia	Bazen (%5–29)
Recurrent respiratory infections	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Weight loss	Sık (%30–79)
Slender build	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding in brain	Her zaman
Subdural hemorrhage	Her zaman

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Hypospadias	Bazen (%5–29)
Short penis	Bazen (%5–29)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Decreased ability to exercise	Sık (%30–79)
Fatigue	Sık (%30–79)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Nemaline bodies	Her zaman

Abnormality of the ear

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

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Hoarse voice	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ACTA1 and how often each is seen. Find out more at hpo.jax.org.

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