ODCs

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3 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Autoimmune lymphoproliferative syndrome

Pyruvate dehydrogenase phosphatase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKCD	(0.74)	PDP1

Citations in the biomedical literature:

Autoimmune lymphoproliferative syndrome		Pyruvate dehydrogenase phosphatase deficiency
	Synonym(s): - ALPS - Canale-Smith syndrome - FAS deficiency		Synonym(s): - PDH phosphatase deficiency

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 3 OMIM references - 1 MeSH reference: D056735		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.