ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Glycogen storage disease due to liver phosphorylase kinase deficiency

Craniofacial-ulnar-renal syndrome

PHKA2	(UniProt - OMIM)		COLEC11	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)		MASP1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	MASP1

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		Craniofacial-ulnar-renal syndrome
	Synonym(s): - GSD due to liver phosphorylase kinase deficiency - GSD type 9A - GSD type 9C - GSD type IXa - GSD type IXc - Glycogen storage disease type 9A - Glycogen storage disease type 9C - Glycogen storage disease type IXa - Glycogen storage disease type IXc - Glycogenosis due to liver phosphorylase kinase deficiency - Glycogenosis type 9A - Glycogenosis type 9C - Glycogenosis type IXa - Glycogenosis type IXc - XLG		Synonym(s): - 3MC syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic 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: unknown Average age onset: childhood Average age of death: normal 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: 2 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.