ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Distal 17p13.3 microdeletion syndrome

Pyruvate dehydrogenase E1-beta deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	PDHB

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Pyruvate dehydrogenase E1-beta deficiency
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - PDHBD - Pyruvate dehydrogenase complex E1 component subunit beta deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic 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: unknown Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

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

No signs/symptoms info available.