Traits

Traits linked to ACTC1

actin alpha cardiac muscle 1

The Human Phenotype Ontology links 62 traits to ACTC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Interstitial cardiac fibrosis	Alltid
Secundum atrial septal defect	Alltid
Left ventricular systolic dysfunction	Svært ofte (80–99 %)
Left-to-right shunt	Svært ofte (80–99 %)
Stretched and thinned heart muscle	Svært ofte (80–99 %)
Abnormal heart rate	Ofte (30–79 %)
Cardiac failure	Ofte (30–79 %)
Enlarged and thickened heart muscle	Ofte (30–79 %)
Increased left ventricular end-diastolic volume	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Right atrial enlargement	Ofte (30–79 %)
Subaortic ventricular septal bulge	Ofte (30–79 %)
Systolic heart murmur	Ofte (30–79 %)
Abnormal left ventricular function	Noen ganger (5–29 %)
Abnormal mitral valve morphology	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Angina pectoris	Noen ganger (5–29 %)
Atrial flutter	Noen ganger (5–29 %)
Bundle branch block	Noen ganger (5–29 %)
Complete right bundle branch block	Noen ganger (5–29 %)
Fainting spell	Noen ganger (5–29 %)
First degree atrioventricular block	Noen ganger (5–29 %)
Heart stops beating	Noen ganger (5–29 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)
Left anterior fascicular block	Noen ganger (5–29 %)
Left bundle branch block	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Left ventricular noncompaction	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Quivering upper heart chambers resulting in irregular heartbeat	Noen ganger (5–29 %)
Restrictive cardiomyopathy	Noen ganger (5–29 %)
Right ventricular dilatation	Noen ganger (5–29 %)
ST segment depression	Noen ganger (5–29 %)
Supraventricular arrhythmia	Noen ganger (5–29 %)
Supraventricular tachycardia	Noen ganger (5–29 %)
Tricuspid regurgitation	Noen ganger (5–29 %)
Ventricular arrhythmia	Noen ganger (5–29 %)
Ventricular fibrillation	Noen ganger (5–29 %)
Ventricular tachycardia	Noen ganger (5–29 %)
Increased pulmonary vascular resistance	Sjelden (1–4%)
Mini stroke	Sjelden (1–4%)
Right ventricular failure	Sjelden (1–4%)
Stroke	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Exertional breathlessness	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)
Breathing difficulty	Noen ganger (5–29 %)
Breathing dysregulation	Noen ganger (5–29 %)
Obstructive lung disease	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
EMG abnormality	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Decreased ability to exercise	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)
Chest pain	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Pneumonia	Sjelden (1–4%)
Recurrent bacterial infections	Sjelden (1–4%)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Cardiomyocyte hypertrophy	Alltid

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Thromboembolic stroke	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Fluid accumulation in lower limbs	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Blue discoloration of the skin	Sjelden (1–4%)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ACTC1 and how often each is seen. Find out more at hpo.jax.org.

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