Cardiology · Cardiology / Metabolic cardiomyopathy
Barth syndrome
also: 3-methylglutaconic aciduria type II
X-linked disorder with cardiomyopathy, neutropenia and skeletal myopathy.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Metabolic cardiomyopathy
- Sex & age distribution
- Male: affected; Female: carriers unaffected; Children: yes, infancy
- Gene(s) involved
- TAFAZZIN
- Alternative names & eponyms
- 3-methylglutaconic aciduria type II
Etiology & mechanism
TAZ deficiency causes abnormal cardiolipin remodeling and mitochondrial dysfunction.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Barth syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Barth syndrome with neurological involvement
growth delay, neutropenia, skeletal myopathy
2 shared
Felty syndrome
neutropenia, recurrent infections
2 shared
Hyper-IgM syndrome
neutropenia, recurrent infections
2 shared
Immunodeficiency with hyper IgM syndrome
neutropenia, recurrent infections
2 shared
Shwachman–Diamond syndrome
neutropenia, recurrent infections
1 shared
Alström syndrome
dilated cardiomyopathy
1 shared
Anomalous left coronary artery from pulmonary artery
dilated cardiomyopathy
1 shared
Atypical hemolytic uremic syndrome
fatigue
1 shared
Autoimmune polyglandular syndrome type 2
fatigue
1 shared
Bare lymphocyte syndrome
recurrent infections
Shares genes with
Loading…
Loading…