Rare Disease Library

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

6-phosphogluconate dehydrogenase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

Glycerol kinase deficiency

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen synthase deficiency

GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle beta-enolase deficiency

GSD due to muscle beta-enolase deficiency · GSDXIII

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Isolated glycerol kinase deficiency

Hyperglycerolemia

Mevalonate kinase deficiency

MKD

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

Phosphoenolpyruvate carboxykinase deficiency

PEPCK deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome