Congenital isolated hyperinsulinism
Synonyms: PHHI · Persistent hyperinsulinemic hypoglycemia of infancy
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital isolated hyperinsulinism | PHHI · Persistent hyperinsulinemic hypoglycemia of infancy |
| fr | Hyperinsulinisme congénital isolé | HHPE · Hyperinsulinisme congénital de l'enfant · Hypoglycémie hyperinsulinémique persistante de l'enfant |
| de | Hyperinsulinismus, isolierter, kongenitaler | CHI · Hyperinsulinämische Hypoglykämie der Kindheit, persistierende Form · PHHI |
| es | Hiperinsulinismo congénito aislado | CHI · Hipoglucemia hiperinsulinémica persistente infantil · PHHI |
| it | Iperinsulinismo isolato congenito | CHI · Ipoglicemia iperinsulinemica persistente neonatale · PHHI |
| nl | Congenitaal geïsoleerd hyperinsulinisme | CHI · PHHI · Persistente hyperinsulinemische hypoglycemie op vroege leeftijd |
| pt | Hiperinsulinismo isolado congénito | Hipoglicemia hiperinsulinemica persistente do lactente |
| pl | Wrodzony izolowany hiperinsulinizm | CHI · PHHI · Przetrwała hipoglikemia hiperinsulinemiczna dzieci |
| cs | Vrozený izolovaný hyperinzulinismus | CHI · PHHI · Perzistující hyperinzulinemická hypoglykémie kojenců |
| uk | Вроджений ізольований гіперінсулінізм | Персистуюча гіперінсулінемічна гіпоглікемія немовлят · PHHI |
| zh | 先天性孤立型高胰岛素血症 | 婴儿持续高胰岛素血性低血糖 |
| tr | Doğumsal izole hiperinsülinizm | CHI · PHHI · Bebeklik dönemi kalıcı hiperinsülinemik hipoglisemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019010 | E | validated | |
| MONDO | 19010 | E | validated | |
| MeSH | D044903 | E | validated | |
| UMLS | C3888018 | E | validated | |
| GARD | 3947 | 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 (2):
- ORPHA:276525Familial hyperinsulinism
rare genetic diseases; rare endocrine diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.24 / 100 000 | Czech Republic | Value and class | Validated | 26431509[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.25 / 100 000 | Japan | Value and class | Validated | 31742894[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.52 / 100 000 | United Kingdom | Value and class | Validated | 32027664[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Netherlands | Value and class | Validated | 14518075[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 40 / 100 000 | Saudi Arabia | Value and class | Validated | 21967988[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.67 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 23.2 / 100 000 | China | Value and class | Validated | 34103049[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/657
- This record as JSON: /data/d/657.json