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

SOURCES: OMIM ORPHANET


Potential gene panels for TAF1A gene

TAF1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TAF1A gene.

More info about this panel
United States.

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