Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to Kir6.2 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 bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, 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 Kir6.2 deficiency | Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form |
| fr | Hyperinsulinisme focal résistant au diazoxide par déficit en Kir6.2 | Hypoglycémie hyperinsulinémique par déficit en Kir6.2, forme focale résistante au diazoxide |
| de | Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch Kir6.2-Mangel | Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel, Diazoxid-resistente fokale Form |
| es | Hiperinsulinismo focal resistente al diazóxido por deficiencia de Kir6.2 | Hipoglucemia hiperinsulinémica por deficiencia de Kir6.2 resistente al diazóxido |
| it | Iperinsulinismo focale resistente al diazossido da deficit di Kir6.2 | Ipoglicemia iperinsulinemica da deficit di Kir6.2, forma focale resistente al diazossido |
| nl | Diazoxideresistent focaal hyperinsulinisme door Kir6.2-deficiëntie | Hyperinsulinemische hypoglycemie door Kir6.2-deficiëntie, diazoxideresistente focale vorm |
| pt | Hiperinsulinismo focal resistente ao diazóxido por deficiência de Kir6.2 | |
| pl | Hiperinsulinizm ogniskowy oporny na diazoksyd z powodu niedoboru Kir6.2 | Hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2, postać ogniskowa oporna na diazoksyd |
| cs | Diazoxid-rezistentní fokální hyperinzulinismus způsobený deficitem Kir6.2 | Hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2, diazoxid-rezistentní fokální forma |
| uk | Діазоксидрезистентний фокальний гіперінсулінізм, зумовлений дефіцитом Kir6.2 | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2, діазоксирезистентна фокальна форма |
| zh | Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素血症 | Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素低血糖血症 |
| tr | Kir6.2 eksikliğine bağlı diazoksite dirençli fokal hiperinsülinizm | Kir6.2 eksikliğine bağlı hiperinsülinemik hipoglisemi, diazoksite dirençli fokal form |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601820 | NTBT | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | attributed | validated |
| MONDO | 0017188 | E | validated | |
| UMLS | C5191060 | 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 |
|---|---|---|---|---|---|---|---|---|
| KCNJ11 | Disease-causing germline mutation(s) in | Assessed | HGNC:6257 | ENSG00000187486 | 600937 | 11p15.1 | potassium inwardly rectifying channel subfamily J member 11 | 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/276603
- This record as JSON: /data/d/276603.json