ORPHA:276585
Diazoxide-resistant hyperinsulinism
Synonyms: Diazoxide-resistant hyperinsulinemic hypoglycemia
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diazoxide-resistant hyperinsulinism | Diazoxide-resistant hyperinsulinemic hypoglycemia |
| fr | Hyperinsulinisme resistant au diazoxide | Hypoglycémie hyperinsulinémique résistante au diazoxide |
| de | Hyperinsulinismus, Diazoxid-resistenter | Hypoglykämie, hyperinsulinämische, Diazoxid-resistente |
| es | Hiperinsulinismo resistente al diazóxido | Hipoglucemia hiperinsulinémica resistente al diazóxido |
| it | Iperinsulinismo resistente al diazossido | Ipoglicemia iperinsulinemica resistente al diazossido |
| nl | Diazoxideresistent hyperinsulinisme | Diazoxideresistente hyperinsulinemische hypoglycemie |
| pt | Hiperinsulinismo resistente ao diazóxido | |
| pl | Hiperinsulinizm oporny na diazoksyd | Hipoglikemia hiperinsulinemiczna oporna na diazoksyd |
| cs | Diazoxid-rezistentní hyperinzulinismus | Diazoxid-rezistentní hyperinzulinemická hypoglykémie |
| uk | Діазоксидрезистентний гіперінсулінізм | Діазоксирезистентна гіперінсулінемічна гіпоглікемія |
| zh | 抗二氮嗪高胰岛素血症 | 抗二氮嗪高胰岛素低血糖血症 |
| tr | Diazoksite dirençli hiperinsülinizm | Diazoksite dirençli hiperinsülinemik hipoglisemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017186 | E | validated | |
| MONDO | 17186 | E | validated | |
| UMLS | C5679778 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:657Congenital isolated hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276585
- This record as JSON: /data/d/276585.json