Rare Disease Library

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Hemolytic uremic syndrome with DGKE deficiency

HUS with DGKE deficiency

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Rare deficiency anemia

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency