Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERINSULINISM, NEONATAL
HYPERINSULINISM, FAMILIAL
NESIDIOBLASTOSIS
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
HYPERINSULINISM, CONGENITAL
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT
PHHI
HHF2
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Number of Symptoms 5
OrphanetNr: 276603
OMIM Id: 601820
ICD-10: E16.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Diazoxide-resistant focal hyperinsulinism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000842) Hyperinsulinemia 39 / 7739
2
 (HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
3
 (HPO:0001520) Large for gestational age 34 / 7739
4
 (HPO:0001943) Hypoglycemia 131 / 7739
5
 (OMIM) Islet cell hyperplasia, diffuse 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nestorowicz et al. (1997) reported a Palestinian Arab boy, born of first-cousin parents, with severe hyperinsulinemic hypoglycemia diagnosed immediately after birth, which failed to respond to medical treatment with either diazoxide or the somatostatin analog, octreotide, and required ...
Molecular genetics OMIM Thomas et al. (1996) screened genomic DNA from members of 15 families with hyperinsulinemic hypoglycemia for mutations in the KCNJ11 gene. In a male infant with profound hypoglycemia, born of consanguineous Iranian parents, Thomas et al. (1996) identified ...