Exercise-induced hyperinsulinism
Synonyms: EIHI · Exercise-induced hyperinsulinemic hypoglycemia · Hyperinsulinism due to SLC16A1 deficiency · Hyperinsulinism due to monocarboxylate transporter 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Exercise-induced hyperinsulinism | EIHI · Exercise-induced hyperinsulinemic hypoglycemia · Hyperinsulinism due to SLC16A1 deficiency · Hyperinsulinism due to monocarboxylate transporter 1 deficiency |
| fr | Hyperinsulinisme induit par l'effort | EIHI · Hyperinsulinisme par déficit en SLC16A1 · Hyperinsulinisme par déficit en transporteur 1 de monocarboxylate · Hypoglycémie hyperinsulinémique induite par l'effort |
| de | Hyperinsulinismus, anstrengungsinduzierter | EIHI · Hyperinsulinismus durch Monocarboxylat-Transporter 1-Mangel · Hyperinsulinismus durch SLC16A1-Mangel · Hyperinsulinämische Hypoglykämie, anstrengungsinduzierte |
| es | Hiperinsulinismo inducido por ejercicio | HIIE · Hiperinsulinismo por deficiencia de SLC16A1 · Hiperinsulinismo por deficiencia del transportador de monocarboxilato 1 · Hipoglucemia hiperinsulinémica inducida por el ejercicio |
| it | Iperinsulinismo indotto dall'esercizio | EIHI · Iperinsulinismo da deficit del trasportatore monocarbossilato 1 · Iperinsulinismo da deficit di SLC16A1 · Ipoglicemia iperinsulinemica indotta dall'esercizio |
| nl | Inspanningsgeïnduceerd hyperinsulinisme | EIHI · Hyperinsulinisme door SLC16A1-deficiëntie · Hyperinsulinisme door monocarboxylaattransporter 1-deficiëntie · Inspanningsgeïnduceerde hyperinsulinemische hypoglycemie |
| pt | Hiperinsulinismo induzido pelo exercício | |
| pl | Hiperinsulinizm wywoływany wysiłkiem | EIHI · Hiperinsulinizm z powodu niedoboru SLC16A1 · Hiperinsulinizm z powodu niedoboru transportera kwasów monokarboksylowych 1 · Hipoglikemia hiperinsilinemiczna wywoływana wysiłkiem |
| cs | Cvičením vyvolaný hyperinzulinismus | EIHI · Cvičením vyvolaná hyperinzulinemická hypoglykemie · Hyperinzulinismus způsobený deficitem SLC16A1 · Hyperinzulinismus způsobený deficitem monokarboxylát transportéru 1 |
| uk | Гіперінсулінізм, спричинений фізичним навантаженням | EIHI · Гіперінсулінемічна гіпоглікемія, спричинена фізичним навантаженням · Гіперінсулінізм внаслідок дефіциту монокарбоксилатного транспортера 1 · Гіперінсулінізм внаслідок дефіциту SLC16A1 |
| zh | 运动性高胰岛素血症 | 单羧酸转运蛋白1缺陷所致高胰岛素血症 |
| tr | Egzersiz kaynaklı hiperinsülinizm | EIHI · SLC16A1 eksikliğine bağlı hiperinsülinizm · Egzersiz kaynaklı hiperinsülinemik hipoglisemi · Monokarboksilat transporter 1 eksikliğine bağlı hiperinsülinizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610021 | E | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | index | validated |
| MONDO | 0012396 | E | validated | |
| MeSH | C538376 | E | validated | |
| UMLS | C1864902 | E | validated | |
| GARD | 9932 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:165985Diazoxide-sensitive diffuse hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC16A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10922 | ENSG00000155380 | 600682 | 1p13.2 | solute carrier family 16 member 1 | 17701893[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 17701893[PMID]_1358043[PMID]_11207177[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 17701893[PMID]_1358043[PMID]_11207177[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/165991
- This record as JSON: /data/d/165991.json