Hyperinsulinism due to INSR deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperinsulinism due to INSR deficiency | Hyperinsulinemic hypoglycemia due to INSR deficiency · Hyperinsulinemic hypoglycemia due to insulin receptor deficiency |
| fr | Hyperinsulinisme par déficit en INSR | Hypoglycémie hyperinsulinémique par déficit en INSR · Hypoglycémie hyperinsulinémique par déficit en récepteur à l'insuline |
| de | Hyperinsulinismus durch INSR-Mangel | Hypoglykämie, hyperinsulinämische, durch INSR-Mangel · Hypoglykämie, hyperinsulinämische, durch Insulin-Rezeptor-Mangel |
| es | Hiperinsulinismo por deficiencia de INSR | Hipoglucemia hiperinsulinémica por deficiencia de INSR · Hipoglucemia hiperinsulinémica por deficiencia de receptor de insulina |
| it | Iperinsulinismo da deficit di INSR | Ipoglicemia iperinsulinemica da deficit del recettore dell'insulina · Ipoglicemia iperinsulinemica da deficit di INSR |
| nl | Hyperinsulinisme door INSR-deficiëntie | Hyperinsulinemische hypoglycemie door INSR-deficiëntie · Hyperinsulinemische hypoglycemie door deficiëntie van insulinereceptor |
| pt | Hiperinsulinismo hipoglicémico devido a défice de INSR | |
| pl | Hiperinsulinizm z powodu niedoboru INSR | Hipoglikemia hiperinsulinemiczna z powodu niedoboru INSR · Hipoglikemia hiperinsulinemiczna z powodu niedoboru receptora insulinowego |
| cs | Hyperinzulinemie způsobená deficitem INSR | Hyperinzulinemická hypoglykémie způsobená deficitem INSR · Hyperinzulinemická hypoglykémie způsobená deficitem inzulinového receptoru |
| uk | Гіперінсулінізм, зумовлений дефіцитом INSR | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту INSR · Гіперінсулінемічна гіпоглікемія внаслідок дефіциту інсулінових рецепторів |
| zh | INSR基因缺陷所致高胰岛素血症 | 胰岛素受体缺陷所致的高胰岛素低血糖 |
| tr | INSR eksikliğine bağlı hiperinsülinizm | INSR eksikliğine bağlı hiperinsülinemik hipoglisemi · İnsülin reseptör eksikliğine bağlı hiperinsülinemik hipoglisemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609968 | E | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A4Y | NTBT | attributed | validated |
| MONDO | 0012381 | E | validated | |
| UMLS | C4303474 | 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:276525Familial hyperinsulinism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INSR | Disease-causing germline mutation(s) in | Assessed | HGNC:6091 | ENSG00000171105 | 147670 | 19p13.2 | insulin receptor | 15161766[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 15161766[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15161766[PMID] |
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
9 annotations · validated 2017-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| Very frequent (99-80%) | ||
| HP:0030794 | Abnormal C-peptide level | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001988 | Recurrent hypoglycemia | |
| Frequent (79-30%) | ||
| HP:0012378 | Fatigue | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001259 | Coma | |
| HP:0000855 | Insulin resistance | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21967988[PMID]_15161766[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263458
- This record as JSON: /data/d/263458.json