ODCs

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

PROTEIN INTERACTIONS: 1

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

Pyruvate dehydrogenase E1-beta deficiency

Short stature due to growth hormone qualitative anomaly


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDHB	(0.63)	GH1

Citations in the biomedical literature:

Pyruvate dehydrogenase E1-beta deficiency		Short stature due to growth hormone qualitative anomaly
	Synonym(s): - PDHBD - Pyruvate dehydrogenase complex E1 component subunit beta deficiency		Synonym(s): - Kowarski syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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

No signs/symptoms info available.