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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Barth syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.52)	TAZ

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Barth syndrome
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		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): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease - Rare immune disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056889

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
Distal 17p13.3 microdeletion syndrome
(no data available)