ODCs

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Glycogen storage disease due to liver phosphorylase kinase deficiency

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

PROTEIN INTERACTIONS: 1

DPM1-CDG

1 OMIM reference -
1 associated gene
5 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

DPM1-CDG

PHKA2	(UniProt - OMIM)		DPM1	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	DPM1

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		DPM1-CDG
	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): - CDG syndrome type Ie - CDG-Ie - CDG1E - Carbohydrate deficient glycoprotein syndrome type Ie - Congenital disorder of glycosylation type 1e - Congenital disorder of glycosylation type Ie - Dol-P-mannosyltransferase deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: 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: 1 OMIM reference - No MeSH references

DPM1-CDG
	Very frequent - Anomalies of eyes and vision - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)