Rare Disease Library

Alpha-1-antitrypsin deficiency

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

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

Alpha delta granule deficiency

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

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Congenital deficiency in alpha-fetoprotein

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Glycogen storage disease due to acid maltase deficiency

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

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor 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

OBSOLETE: C1 inhibitor deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Protein S acquired deficiency

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency