Orphanet: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

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.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Disease definition

A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.

ORPHA:79644

Classification level: Disorder

Synonym(s):
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: -
ICD-10: E16.1
OMIM: 601820
UMLS: -
MeSH: -
GARD: -
MedDRA: -

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

ORPHA:79644

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Disease review articles

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services