Rare Disease Library

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Acatalasemia

Catalase deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Argininemia

Arginase 1 deficiency · Arginase deficiency

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fucosidosis

Alpha-L-fucosidase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

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 glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to muscle beta-enolase deficiency

GSD due to muscle beta-enolase deficiency · GSDXIII

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Prolidase deficiency

Hyperimidodipeptiduria

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

Trehalase deficiency

Isolated trehalose intolerance