Rare Disease Library

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency · Dominant KATP hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

Congenital glucokinase-related hyperinsulinism

Glucokinase-related hyperinsulinemic hypoglycemia

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form

Diazoxide-resistant hyperinsulinism

Diazoxide-resistant hyperinsulinemic hypoglycemia

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hyperinsulinemic hypoglycaemia

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

Hyperinsulinism due to INSR deficiency

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

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

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

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Hyperphenylalaninemia due to DNAJC12 deficiency

Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia due to BH4 deficiency

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase 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