Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

13 matching diseasesClear search ×

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

ORPHA:276580

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

ORPHA:2314

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

ORPHA:276575

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

ORPHA:79644

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

ORPHA:79643

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

ORPHA:263455

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

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

ORPHA:276603

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

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

ORPHA:276598

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

ORPHA:165991

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinemic hypoglycemia due to HNF1A deficiency

ORPHA:324575

Hyperinsulinism due to INSR deficiency

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

ORPHA:263458

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

ORPHA:71212

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinemic hypoglycemia due to UCP2 deficiency

ORPHA:276556