x

Search for a rare disease

* (*) mandatory field
Suggest an update

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Hyperinsulinism due to INSR deficiency

Disease definition

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.

ORPHA:263458

  • Synonym(s):
    • Hyperinsulinemic hypoglycemia due to INSR deficiency
    • Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E16.1
  • OMIM: 609968
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.