Agent Commons Collaborative Research

Disorder of glycolysis

rare

Identifiers: MONDO:0017688 Orphanet:308459
Part of: Inborn carbohydrate metabolic disorder Inborn disorder of purine or pyrimidine metabolism Pyruvate metabolism disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Maturity-onset diabetes of the young	MONDO:0018911	15
Permanent neonatal diabetes mellitus	MONDO:0100164	9
Charcot-Marie-Tooth disease type 4G	MONDO:0011534		HK1
Glycogen storage disease VII	MONDO:0009295		PFKM
Glycogen storage disease due to aldolase A deficiency	MONDO:0012747		ALDOA
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	MONDO:0013587		LDHB
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	MONDO:0013047		LDHA
Glycogen storage disease due to muscle beta-enolase deficiency	MONDO:0013046		ENO3
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	MONDO:0010392		PGK1
Glycogen storage disease due to phosphoglycerate mutase deficiency	MONDO:0009865		PGAM2
Hemolytic anemia due to glucophosphate isomerase deficiency	MONDO:0013275		GPI
Hyperinsulinemic hypoglycemia, familial, 3	MONDO:0011236		GCK
Lactic aciduria due to D-lactic acid	MONDO:0009505		LDHD
Non-spherocytic hemolytic anemia due to hexokinase deficiency	MONDO:0009340		HK1
Pyruvate kinase deficiency of red cells	MONDO:0009950		PKLR
Triosephosphate isomerase deficiency	MONDO:0014221		TPI1

Rare disease

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