TAF1A gene related symptoms and diseases
All the information presented here about the TAF1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TAF1A gene
Symptoms // Phenotype | % Cases |
---|---|
Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Syncope | Very Common - Between 80% and 100% cases |
Impaired myocardial contractility | Very Common - Between 80% and 100% cases |
Abnormality of neutrophils | Very Common - Between 80% and 100% cases |
Abnormal left ventricle morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TAF1A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Severe sensorineural hearing impairment
- Thromboembolism
- Lipoatrophy
- Congenital sensorineural hearing impairment
- Palmoplantar hyperkeratosis
- Ventricular arrhythmia
- Tachypnea
- EMG abnormality
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TAF1A gene
Here you will find a list of rare diseases related to the TAF1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Search interest in TAF1A
Potential gene panels for TAF1A gene
TAF1A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TAF1A gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKG2 GABRA5 PGR QDPR PAX3 MMACHC JMJD1C