Rare Disease Library

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency