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1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated delta-storage pool disease

2 associated genes
No signs/symptoms info

Barth syndrome

Isolated delta-storage pool disease

TAZ	(UniProt - OMIM)		FLI1	(UniProt - OMIM)
			RUNX1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Barth syndrome		Isolated delta-storage pool disease
	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): - Isolated delta-SPD - Isolated dense-SPD - Isolated dense-storage pool disease

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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
Isolated delta-storage pool disease
(no data available)