Hyperinsulinism due to UCP2 deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to UCP2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperinsulinism due to UCP2 deficiency | Hyperinsulinemic hypoglycemia due to UCP2 deficiency |
| fr | Hyperinsulinisme par déficit en UCP2 | Hypoglycémie hyperinsulinémique par déficit en UCP2 |
| de | Hyperinsulinismus durch UCP2-Mangel | Hypoglykämie, hyperinsulinämische, durch UCP2-Mangel |
| es | Hiperinsulinismo por deficiencia de UCP2 | Hipoglucemia hiperinsulinémica por deficiencia de UCP2 |
| it | Iperinsulinismo da deficit di UCP2 | Ipoglicemia iperinsulinemica da deficit di UCP2 |
| nl | Hyperinsulinisme door UCP2-deficiëntie | Hyperinsulinemische hypoglycemie door UCP2-deficiëntie |
| pt | Hiperinsulinismo por deficiência de UCP2 | |
| pl | Hiperinsulinizm z powodu niedoboru UCP2 | Hipoglikemia hiperinsulinemiczna z powodu niedoboru UCP2 |
| cs | Hyperinzulinismus způsobený deficitem UCP2 | Hyperinzulinemická hypoglykémie způsobená deficitem UCP2 |
| uk | Гіперінсулінізм внаслідок дефіциту UCP2 | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту UCP2 |
| zh | UCP2基因缺陷所致高胰岛素血症 | UCP2基因缺陷所致高胰岛素低血糖 |
| tr | UCP2 eksikliğine bağlı hiperinsülinizm | UCP2 eksikliğine bağlı hiperinsülinemik hipoglisemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | attributed | validated |
| MONDO | 0017183 | E | validated | |
| UMLS | C4303082 | 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:165985Diazoxide-sensitive diffuse 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 |
|---|---|---|---|---|---|---|---|---|
| UCP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12518 | ENSG00000175567 | 601693 | 11q13.4 | uncoupling protein 2 | 19065272[PMID]_25733449[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19065272[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
26 annotations · validated 2021-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040299 | Decreased circulating free fatty acid level | |
| HP:0031084 | Excessive insulin response to glucagon test | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0030796 | Increased C-peptide level | |
| HP:0012051 | Reactive hypoglycemia | |
| HP:0001988 | Recurrent hypoglycemia | |
| Frequent (79-30%) | ||
| HP:0000713 | Agitation | |
| HP:0002329 | Drowsiness | |
| HP:0001069 | Episodic hyperhidrosis | |
| HP:0001520 | Large for gestational age | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0000980 | Pallor | |
| HP:0001962 | Palpitations | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0031224 | Diffuse pancreatic islet hyperplasia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0002591 | Polyphagia | |
| HP:0002133 | Status epilepticus | |
| HP:0001279 | Syncope | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 29280746[PMID]_31414570[PMID]_30246418[PMID]_19065272[PMID]_21967988[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276556
- This record as JSON: /data/d/276556.json