Barth syndrome

Preferred Label : Barth syndrome;

Symbol : BTHS;

CISMeF acronym : BTHS; MGA2; MGCA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3-methylglutaconic aciduria, type II; MGCA2; MGA2; Mga, type II; Cardioskeletal myopathy with neutropenia and abnormal mitochondria;

Description : Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the tafazzin gene (TAZ, 300394.0001);

Laboratory abnormalities : Organic aciduria, mild (in some patients); Elevated urinary 3-methylglutaconate; Elevated urinary 3-methylglutarate; Elevated urinary 2-ethylhydracrylate;

Prefixed ID : #302060;

Details

Origin ID

302060;

UMLS CUI

C0574083;

Automatic exact mappings (from CISMeF team)
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
- tafazzin, phospholipid-lysophospholipid transacylase [HGNC gene]
Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth Syndrome [NCIt concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [DO Concept]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- Barth syndrome [ORDO Disease]
- barth syndrome [MeSH Descriptor]
- barth syndrome [MeSH concept]
DO Cross reference
- Barth syndrome [DO Concept]
Genes related to phenotype
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Abnormal mitochondrial morphology [HPO term]
- Arrhythmia [HPO term]
- Broad forehead [HPO term]
- Congestive heart failure [HPO term]
- Deeply set eye [HPO term]
- Dilated cardiomyopathy [HPO term]
- Endocardial fibroelastosis [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Full cheeks [HPO term]
- Gait disturbance [HPO term]
- Granulocytopenia [HPO term]
- Growth delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Intermittent lactic acidemia [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Motor delay [HPO term]
- Myopathic facies [HPO term]
- Neutropenia [HPO term]
- Organic aciduria [HPO term]
- Recurrent infections in infancy and early childhood [HPO term]
- Round face [HPO term]
- Skeletal myopathy [HPO term]
- Talipes equinovarus [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Barth syndrome [ORDO Disease]
See also inter- (CISMeF)
- TAFAZZIN wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth Syndrome [NCIt concept]
- Barth syndrome [ORDO Disease]
- Barth syndrome [DO Concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- barth syndrome [MeSH Descriptor]
- barth syndrome [MeSH concept]

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