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

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Joint contracture of the hand	Alati
Limb-girdle muscular dystrophy	Väga sageli (80–99%)
Winged shoulder blade	Väga sageli (80–99%)
Wrist drop	Väga sageli (80–99%)
Elbow flexion contracture	Sageli (30–79%)
Foot drop	Sageli (30–79%)
Hip contracture	Sageli (30–79%)
Knee contracture	Sageli (30–79%)
Limb muscle weakness	Sageli (30–79%)
Limb-girdle muscle weakness	Sageli (30–79%)
Ankle flexion contracture	Mõnikord (5–29%)
Club feet	Mõnikord (5–29%)
Dislocated hip since birth	Mõnikord (5–29%)
Flexion contracture of finger	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Inability to straighten knee	Mõnikord (5–29%)
Inward turned thumb	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Outward bow-leggedness	Mõnikord (5–29%)
Pelvic girdle muscle weakness	Mõnikord (5–29%)
Weak shoulder muscles	Mõnikord (5–29%)
Hand muscle degeneration	Pole registreeritud
Shortening of the achilles tendon	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Absent reflexes	Alati
Delayed ability to sit	Alati
Global developmental delay	Väga sageli (80–99%)
Waddling gait	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Decreased muscle movement	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
Delayed ability to roll over	Sageli (30–79%)
Diminished deep tendon reflex	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Slow movements	Sageli (30–79%)
Bulbar signs	Mõnikord (5–29%)
Difficulty sleeping	Mõnikord (5–29%)
Falls	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)
Poor fine motor coordination	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Expressionless face	Alati
Weakness of facial musculature	Alati
Bell's palsy	Väga sageli (80–99%)
Wry neck	Väga sageli (80–99%)
Big lower jaw	Sageli (30–79%)
Dental crowding	Sageli (30–79%)
High palate	Sageli (30–79%)
Long face	Sageli (30–79%)
Myopathic facies	Sageli (30–79%)
Narrow face	Sageli (30–79%)
Chewing difficulties	Mõnikord (5–29%)
Facial diplegia	Mõnikord (5–29%)
High, narrow palate	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Long philtrum	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)
Wide fontanelles	Mõnikord (5–29%)
Receding chin	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Respiratory failure	Alati
Respiratory failure requiring assisted ventilation	Alati
Respiratory function loss	Alati
Abnormality of the respiratory system	Sageli (30–79%)
Abnormality on pulmonary function testing	Sageli (30–79%)
Breathing difficulties	Sageli (30–79%)
High blood carbon dioxide level	Mõnikord (5–29%)
Low blood oxygen level	Mõnikord (5–29%)
Nocturnal hypoventilation	Mõnikord (5–29%)
Poorly developed lungs	Mõnikord (5–29%)
Reduced vital capacity	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Tube feeding	Alati
Poor swallowing	Väga sageli (80–99%)
Gastrostomy tube feeding in infancy	Sageli (30–79%)
Nasogastric tube feeding	Sageli (30–79%)
Neuromuscular dysphagia	Sageli (30–79%)
Poor appetite	Sageli (30–79%)
Feeding difficulties in infancy	Mõnikord (5–29%)
Nasogastric tube feeding in infancy	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Cardiac conduction abnormality	Sageli (30–79%)
Abnormality of the heart	Mõnikord (5–29%)
Cor pulmonale	Mõnikord (5–29%)
Disease of the heart muscle	Mõnikord (5–29%)
Enlarged heart	Mõnikord (5–29%)
Heart stops beating	Mõnikord (5–29%)
Slow heartbeats	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Feet or buttocks of fetus positioned near opening of uterus	Alati
Less than 10 fetal movements in 12 hours	Väga sageli (80–99%)
High levels of amniotic fluid	Sageli (30–79%)
Fetal akinesia sequence	Mõnikord (5–29%)
Premature birth	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Chylothorax	Alati
Elevated blood creatine phosphokinase	Väga sageli (80–99%)
Increased muscle lipid content	Sageli (30–79%)
Edema of the dorsum of hands	Mõnikord (5–29%)
Mildly elevated creatine kinase	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Drooping upper eyelid	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Pneumonia	Sageli (30–79%)
Aspiration pneumonia	Mõnikord (5–29%)
Recurrent respiratory infections	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Slender build	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Bleeding in brain	Alati
Subdural hemorrhage	Alati

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Hypospadias	Mõnikord (5–29%)
Short penis	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Decreased ability to exercise	Sageli (30–79%)
Fatigue	Sageli (30–79%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Nemaline bodies	Alati

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Hoarse voice	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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