ODCs

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Glycogen storage disease due to muscle phosphorylase kinase deficiency

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Catecholaminergic polymorphic ventricular tachycardia

5 OMIM references -
4 associated genes
3 signs/symptoms

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Catecholaminergic polymorphic ventricular tachycardia

PHKA1	(UniProt - OMIM)	CALM1	(UniProt - OMIM)
PHKG1	(UniProt - OMIM)	CASQ2	(UniProt - OMIM)
		RYR2	(UniProt - OMIM)
		TRDN	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG1	(0.55)	CALM1

Citations in the biomedical literature:

Glycogen storage disease due to muscle phosphorylase kinase deficiency		Catecholaminergic polymorphic ventricular tachycardia
	Synonym(s): - GSD due to muscle phosphorylase kinase deficiency - GSD type 9D - GSD type 9E - GSD type IXd - GSD type IXe - Glycogen storage disease type 9D - Glycogen storage disease type 9E - Glycogen storage disease type IXd - Glycogen storage disease type IXe - Glycogenosis due to muscle phosphorylase kinase deficiency - Glycogenosis type 9D - Glycogenosis type 9E - Glycogenosis type IXd - Glycogenosis type IXe		Synonym(s): - Bidirectional tachycardia - Bidirectional tachycardia induced by catecholamine - CPVT - Double tachycardia induced by catecholamines - Malignant paroxysmal ventricular tachycardia - Multifocal ventricular premature beats - Paroxysmal ventricular fibrillation - Syncopal paroxysmal tachycardia - Syncopal tachyarythmia

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references

Catecholaminergic polymorphic ventricular tachycardia
	Very frequent - Cardiac rhythm disorder / arrhythmia Frequent - Dizziness Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
Glycogen storage disease due to muscle phosphorylase kinase deficiency
(no data available)