Exercise-induced hyperinsulinism

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERINSULINEMIC HYPOGLYCEMIA, EXERCISE-INDUCED
HHF7
EIHI
Exercise-induced hyperinsulinemic hypoglycemia
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Number of Symptoms 11
OrphanetNr: 165991
OMIM Id: 610021
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:

Disease classification (adopted from Orphanet):

Parent Diseases: Diazoxide-sensitive diffuse hyperinsulinism
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Disorder of carbohydrate absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002173) Hypoglycemic seizures 19 / 7739
2
(HPO:0001325) Hypoglycemic coma 9 / 7739
3
(HPO:0000825) Hyperinsulinemic hypoglycemia 18 / 7739
4
(HPO:0000842) Hyperinsulinemia 39 / 7739
5
(HPO:0004510) Pancreatic islet-cell hyperplasia 9 / 7739
6
(HPO:0001943) Hypoglycemia 131 / 7739
7
(OMIM) Pyruvate-induced insulin secretion 1 / 7739
8
(OMIM) Loss on consciousness due to hypoglycemia 1 / 7739
9
(OMIM) Islet cell hyperplasia, diffuse 7 / 7739
10
(OMIM) Exercise-induced hyperinsulinism 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Burman et al. (1992) described a brother and sister who had recurrent syncope due to severe hyperinsulinemic hypoglycemia. The brother presented at age 42 with a 15-year history of syncopal episodes after vigorous exercise; his 34-year-old sister reported ...
Molecular genetics OMIM In the unrelated boy and girl with exercise-induced hyperinsulinism and pyruvate-stimulated insulin secretion originally reported by Meissner et al. (2001), Otonkoski et al. (2003) sequenced the genes encoding CD147 and the 8 known monocarboxylate transporter proteins; no mutations ...