Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the <i>ABCC8</i> gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form |
| fr | Hyperinsulinisme focal résistant au diazoxide par déficit en SUR1 | Hypoglycémie hyperinsulinémique par déficit en SUR1, forme focale résistante au diazoxide |
| de | Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch SUR1-Mangel | Hypoglykämie, hyperinsulinämische, durch SUR1-Mangel, Diazoxid-resistente fokale Form |
| es | Hiperinsulinismo focal resistente al diazóxido por deficiencia de SUR1 | Hipoglucemia hiperinsulinémica por deficiencia de SUR1 resistente al diazóxido |
| it | Iperinsulinismo focale resistente al diazossido da deficit di SUR1 | Ipoglicemia iperinsulinemica da deficit di SUR1, forma focale resistente al diazossido |
| nl | Diazoxideresistent focaal hyperinsulinisme door SUR1-deficiëntie | Hyperinsulinemische hypoglycemie door SUR1-deficiëntie, diazoxideresistente focale vorm |
| pt | Hiperinsulinismo focal resistente ao diazóxido por deficiência de SUR1 | |
| pl | Hiperinsulinizm ogniskowy oporny na diazoksyd z powodu niedoboru SUR1 | Hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1, postać ogniskowa oporna na diazoksyd |
| cs | Diazoxid-rezistentní fokální hyperinzulinismus způsobený deficitem SUR1 | Hyperinzulinemická hypoglykémie způsobená deficitem SUR1, diazoxid-rezistentní fokální forma |
| uk | Діазоксидрезистентний фокальний гіперінсулінізм, зумовлений дефіцитом SUR1 | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту SUR1, діазоксирезистентна фокальна форма |
| zh | SUR1基因缺陷所致抗二氮嗪局灶性高胰岛素血症 | SUR1基因缺陷所致抗二氮嗪局灶性高胰岛素低血糖血症 |
| tr | SUR1 eksikliğine bağlı diazoksite dirençli fokal hiperinsülinizm | SUR1 eksikliğine bağlı hiperinsülinemik hipoglisemi, diazoksite dirençli fokal form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256450 | NTBT | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | attributed | validated |
| MONDO | 0017187 | E | validated | |
| UMLS | C5191059 | 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 (1):
- ORPHA:79298Diazoxide-resistant focal hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:59 | ENSG00000006071 | 600509 | 11p15.1 | ATP binding cassette subfamily C member 8 | 21967988[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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/276598
- This record as JSON: /data/d/276598.json