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

Abnormality of limbs

Trait	나타나는 빈도
Joint contracture of the hand	항상
Limb-girdle muscular dystrophy	매우 자주 (80–99%)
Winged shoulder blade	매우 자주 (80–99%)
Wrist drop	매우 자주 (80–99%)
Elbow flexion contracture	자주 (30–79%)
Foot drop	자주 (30–79%)
Hip contracture	자주 (30–79%)
Knee contracture	자주 (30–79%)
Limb muscle weakness	자주 (30–79%)
Limb-girdle muscle weakness	자주 (30–79%)
Ankle flexion contracture	가끔 (5–29%)
Club feet	가끔 (5–29%)
Dislocated hip since birth	가끔 (5–29%)
Flexion contracture of finger	가끔 (5–29%)
High-arched foot	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Inability to straighten knee	가끔 (5–29%)
Inward turned thumb	가끔 (5–29%)
Knock knees	가끔 (5–29%)
Outward bow-leggedness	가끔 (5–29%)
Pelvic girdle muscle weakness	가끔 (5–29%)
Weak shoulder muscles	가끔 (5–29%)
Hand muscle degeneration	기록되지 않음
Shortening of the achilles tendon	기록되지 않음

Abnormality of the nervous system

Trait	나타나는 빈도
Absent reflexes	항상
Delayed ability to sit	항상
Global developmental delay	매우 자주 (80–99%)
Waddling gait	매우 자주 (80–99%)
Abnormal gait	자주 (30–79%)
Clumsiness	자주 (30–79%)
Decreased muscle movement	자주 (30–79%)
Decreased reflex response	자주 (30–79%)
Delayed ability to roll over	자주 (30–79%)
Diminished deep tendon reflex	자주 (30–79%)
Motor delay	자주 (30–79%)
Slow movements	자주 (30–79%)
Bulbar signs	가끔 (5–29%)
Difficulty sleeping	가끔 (5–29%)
Falls	가끔 (5–29%)
Headache	가끔 (5–29%)
Increased reflexes	가끔 (5–29%)
Tremor	가끔 (5–29%)
Poor fine motor coordination	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Expressionless face	항상
Weakness of facial musculature	항상
Bell's palsy	매우 자주 (80–99%)
Wry neck	매우 자주 (80–99%)
Big lower jaw	자주 (30–79%)
Dental crowding	자주 (30–79%)
High palate	자주 (30–79%)
Long face	자주 (30–79%)
Myopathic facies	자주 (30–79%)
Narrow face	자주 (30–79%)
Chewing difficulties	가끔 (5–29%)
Facial diplegia	가끔 (5–29%)
High, narrow palate	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Long philtrum	가끔 (5–29%)
Short neck	가끔 (5–29%)
Wide fontanelles	가끔 (5–29%)
Receding chin	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Respiratory failure	항상
Respiratory failure requiring assisted ventilation	항상
Respiratory function loss	항상
Abnormality of the respiratory system	자주 (30–79%)
Abnormality on pulmonary function testing	자주 (30–79%)
Breathing difficulties	자주 (30–79%)
High blood carbon dioxide level	가끔 (5–29%)
Low blood oxygen level	가끔 (5–29%)
Nocturnal hypoventilation	가끔 (5–29%)
Poorly developed lungs	가끔 (5–29%)
Reduced vital capacity	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties	항상
Tube feeding	항상
Poor swallowing	매우 자주 (80–99%)
Gastrostomy tube feeding in infancy	자주 (30–79%)
Nasogastric tube feeding	자주 (30–79%)
Neuromuscular dysphagia	자주 (30–79%)
Poor appetite	자주 (30–79%)
Feeding difficulties in infancy	가끔 (5–29%)
Nasogastric tube feeding in infancy	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Cardiac conduction abnormality	자주 (30–79%)
Abnormality of the heart	가끔 (5–29%)
Cor pulmonale	가끔 (5–29%)
Disease of the heart muscle	가끔 (5–29%)
Enlarged heart	가끔 (5–29%)
Heart stops beating	가끔 (5–29%)
Slow heartbeats	가끔 (5–29%)
Stretched and thinned heart muscle	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Feet or buttocks of fetus positioned near opening of uterus	항상
Less than 10 fetal movements in 12 hours	매우 자주 (80–99%)
High levels of amniotic fluid	자주 (30–79%)
Fetal akinesia sequence	가끔 (5–29%)
Premature birth	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Chylothorax	항상
Elevated blood creatine phosphokinase	매우 자주 (80–99%)
Increased muscle lipid content	자주 (30–79%)
Edema of the dorsum of hands	가끔 (5–29%)
Mildly elevated creatine kinase	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Drooping upper eyelid	가끔 (5–29%)
Eye muscle paralysis	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Abnormality of the immune system

Trait	나타나는 빈도
Pneumonia	자주 (30–79%)
Aspiration pneumonia	가끔 (5–29%)
Recurrent respiratory infections	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Faltering weight	자주 (30–79%)
Weight loss	자주 (30–79%)
Slender build	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bleeding in brain	항상
Subdural hemorrhage	항상

Abnormality of the genitourinary system

Trait	나타나는 빈도
Hypospadias	가끔 (5–29%)
Short penis	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Decreased ability to exercise	자주 (30–79%)
Fatigue	자주 (30–79%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Nemaline bodies	항상

Abnormality of the ear

Trait	나타나는 빈도
Low-set ears	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
Hoarse voice	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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