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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
5 associated genes
No signs/symptoms info
Barth syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation

TAZ CEBPA
FLT3
KIT
RUNX1
RUNX1T1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TAZ
(0.55)
RUNX1



Citations in the biomedical literature:


Barth syndrome
TAZ
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
CEBPA FLT3 KIT RUNX1 RUNX1T1



Barth syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

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
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D056889
External references:
No OMIM references
No MeSH references

Barth syndrome

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



Acute myeloid leukemia with t(8;21)(q22;q22) translocation

(no data available)