Rare Disease Library

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I 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 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 diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

Diazoxide-resistant hyperinsulinism

Diazoxide-resistant hyperinsulinemic hypoglycemia

Diazoxide-sensitive diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Familial Hyperalphalipoproteinemia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Hereditary renal hypouricemia

Familial renal hypouricemia

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 UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension