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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

TraitKui sageli seda täheldatakse
Interstitial cardiac fibrosisAlati
Secundum atrial septal defectAlati
Left ventricular systolic dysfunctionVäga sageli (80–99%)
Left-to-right shuntVäga sageli (80–99%)
Stretched and thinned heart muscleVäga sageli (80–99%)
Abnormal heart rateSageli (30–79%)
Cardiac failureSageli (30–79%)
Enlarged and thickened heart muscleSageli (30–79%)
Increased left ventricular end-diastolic volumeSageli (30–79%)
PalpitationsSageli (30–79%)
Right atrial enlargementSageli (30–79%)
Subaortic ventricular septal bulgeSageli (30–79%)
Systolic heart murmurSageli (30–79%)
Abnormal left ventricular functionMõnikord (5–29%)
Abnormal mitral valve morphologyMõnikord (5–29%)
An opening in the wall separating the top two chambers of the heartMõnikord (5–29%)
Angina pectorisMõnikord (5–29%)
Atrial flutterMõnikord (5–29%)
Bundle branch blockMõnikord (5–29%)
Complete right bundle branch blockMõnikord (5–29%)
Fainting spellMõnikord (5–29%)
First degree atrioventricular blockMõnikord (5–29%)
Heart stops beatingMõnikord (5–29%)
Increased blood pressure in blood vessels of lungsMõnikord (5–29%)
Left anterior fascicular blockMõnikord (5–29%)
Left bundle branch blockMõnikord (5–29%)
Left ventricular hypertrophyMõnikord (5–29%)
Left ventricular noncompactionMõnikord (5–29%)
Mitral regurgitationMõnikord (5–29%)
Quivering upper heart chambers resulting in irregular heartbeatMõnikord (5–29%)
Restrictive cardiomyopathyMõnikord (5–29%)
Right ventricular dilatationMõnikord (5–29%)
ST segment depressionMõnikord (5–29%)
Supraventricular arrhythmiaMõnikord (5–29%)
Supraventricular tachycardiaMõnikord (5–29%)
Tricuspid regurgitationMõnikord (5–29%)
Ventricular arrhythmiaMõnikord (5–29%)
Ventricular fibrillationMõnikord (5–29%)
Ventricular tachycardiaMõnikord (5–29%)
Increased pulmonary vascular resistanceHarva (1–4%)
Mini strokeHarva (1–4%)
Right ventricular failureHarva (1–4%)
StrokeHarva (1–4%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Exertional breathlessnessSageli (30–79%)
OrthopneaSageli (30–79%)
Breathing difficultyMõnikord (5–29%)
Breathing dysregulationMõnikord (5–29%)
Obstructive lung diseaseHarva (1–4%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
EMG abnormalityMõnikord (5–29%)
Loss of fat tissue in localized areaMõnikord (5–29%)
Muscle tissue diseaseMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Decreased ability to exerciseSageli (30–79%)
FatigueSageli (30–79%)
Chest painMõnikord (5–29%)

Abnormality of the immune system

TraitKui sageli seda täheldatakse
PneumoniaHarva (1–4%)
Recurrent bacterial infectionsHarva (1–4%)

Abnormal cellular phenotype

TraitKui sageli seda täheldatakse
Cardiomyocyte hypertrophyAlati

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Thromboembolic strokeMõnikord (5–29%)

Abnormality of limbs

TraitKui sageli seda täheldatakse
Fluid accumulation in lower limbsMõnikord (5–29%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentMõnikord (5–29%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Blue discoloration of the skinHarva (1–4%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Fluid retentionSageli (30–79%)

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 ACTC1 and how often each is seen. Find out more at hpo.jax.org.

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