Insulin autoimmune syndrome
Synonyms: Hirata disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Insulin autoimmune syndrome | Hirata disease |
| fr | Syndrome hypoglycémique auto-immun | Maladie d'Hirata |
| de | Antiinsulinantikörper-Syndrom | Autoimmunes Insulin-Syndrom · Hirata-Krankheit |
| es | Síndrome autoinmune por insulina | Enfermedad de Hirata |
| it | Sindrome insulinica autoimmune | Malattia di Hirata |
| nl | Insuline-auto-immuun syndroom | Ziekte van Hirata |
| pt | Síndrome autoimune da insulina | |
| pl | Autoimmunologiczny zespół insulinowy/Zespół autoimmunologicznej hipoglikemii/Zespół autoimmunologicznej hiperinsulinemii | Choroba Hirata |
| cs | Inzulinový autoimunitní syndrom | Hirataova nemoc |
| uk | Інсуліновий аутоімунний синдром | Хвороба Хірата |
| zh | 胰岛素自身免疫综合征 | 平田病 |
| tr | İnsülin otoimmün sendromu | Hirata hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A4Y | NTBT | attributed | validated |
| MONDO | 0018465 | E | validated | |
| UMLS | C0854359 | E | validated | |
| GARD | 10808 | E | validated | |
| MedDRA | 10022472 | 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:443095Hyperinsulinemic hypoglycaemia
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 404 cases | Worldwide | Case(s) | Validated | 24111525[PMID] | |
| Point prevalence | <1 / 1 000 000 | 0.017 / 100 000 | Europe | Value and class | 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
13 annotations · validated 2017-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0000855 | Insulin resistance | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0002725 | Systemic lupus erythematosus | |
| Frequent (79-30%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0005059 | Arthralgia/arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0001958 | Nonketotic hypoglycemia | |
| HP:0012051 | Reactive hypoglycemia | |
| HP:0001824 | Weight loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25390580[PMID]_22275456[PMID]_24111525[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411593
- This record as JSON: /data/d/411593.json