Hyperinsulinism due to INSR deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HHF5
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Number of Symptoms 9
OrphanetNr: 263458
OMIM Id: 609968
ICD-10: E16.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial hyperinsulinism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001325) Hypoglycemic coma 9 / 7739
2
 (HPO:0002173) Hypoglycemic seizures 19 / 7739
3
 (HPO:0008283) Fasting hyperinsulinemia 2 / 7739
4
 (HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
5
 (HPO:0001943) Hypoglycemia 131 / 7739
6
 (HPO:0012051) Reactive hypoglycemia 2 / 7739
7
 (OMIM) Elevated serum insulin-to-C-peptide ratio 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Hyperinsulinemia, fasting 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hojlund et al. (2004) described a large 3-generation Danish family in which affected members had postprandial episodes of neuroglycopenia. The proband was a 21-year-old woman who since the age of 12 had experienced episodes of blurred vision, loss ...
Molecular genetics OMIM In all affected members of a 3-generation Danish family with hyperinsulinemic hypoglycemia, Hojlund et al. (2004) identified heterozygosity for a point mutation in the insulin receptor gene (147670.0037). The mutation was not found in any unaffected family members. ...