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1 OMIM reference -
1 associated gene
5 signs/symptoms

PROTEIN INTERACTIONS: 1

17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

Barth syndrome

17p13.3 microduplication syndrome

TAZ	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


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

Citations in the biomedical literature:

Barth syndrome		17p13.3 microduplication 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		Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease - Rare immune disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Barth syndrome		17p13.3 microduplication 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		Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration