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Barth syndrome
1 OMIM reference -
1 associated gene
11 connected diseases
5 signs/symptoms
Disease Type of connection
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Split hand-split foot malformation
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Precursor B-cell acute lymphoblastic leukemia
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Synonym(s):
- 3-methylglutaconic aciduria type 2
- BTHS
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia
- MGA2
- X-linked cardioskeletal myopathy and neutropenia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: D056889
Gene symbol UniProt reference OMIM reference
TAZ Q16635300394
Very frequent
- Cardiomyopathy / hypertrophic / dilated
- X-linked recessive inheritance

Frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Endocardium anomalies / fibroelastosis / endocarditis
- Polynuclear cells / neutrophils anomalies / neutropenia