Hyperinsulinism due to HNF1A deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to HNF1A deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperinsulinism due to HNF1A deficiency | Hyperinsulinemic hypoglycemia due to HNF1A deficiency |
| fr | Hyperinsulinisme par déficit en HNF1A | Hypoglycémie hyperinsulinémique par déficit en HNF1A |
| de | Hyperinsulinismus durch HNF1A-Mangel | Hypoglykämie, hyperinsulinämische, durch HNF1A-Mangel |
| es | Hiperinsulinismo por deficiencia de HNF1A | Hipoglucemia hiperinsulinémica por deficiencia de HNF1A |
| it | Iperinsulinismo da deficit di HNF1A | Ipoglicemia iperinsulinemica da deficit di HNF1A |
| nl | Hyperinsulinisme door HNF1A-deficiëntie | Hyperinsulinemische hypoglycemie door HNF1A-deficiëntie |
| pt | Hiperinsulinismo por deficiencia de HNF1A | |
| pl | Hiperinsulinizm z powodu niedoboru HNF1A | Hipoglikemia hiperinsulinemiczna z powodu niedoboru HNF1A deficiency |
| cs | Hyperinzulinismus způsobený HNF1A deficitem | Hyperinzulinemická hypoglykémie způsobená HNF1A deficitem |
| uk | Гіперінсулінізм, зумовлений дефіцитом HNF1A | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту HNF1A |
| zh | HNF1A基因缺陷所致高胰岛素血症 | HNF1A基因缺陷所致高胰岛素血症 |
| tr | HNF1A eksikliğine bağlı hiperinsülinizm | HNF1A 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 | 0017935 | E | validated | |
| UMLS | C4303475 | 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 |
|---|---|---|---|---|---|---|---|---|
| HNF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:11621 | ENSG00000135100 | 142410 | 12q24.31 | HNF1 homeobox A | 22802087[PMID]_25733449[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22802087[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
30 annotations · validated 2021-07-12| 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:0030796 | Increased C-peptide level | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001319 | Neonatal hypotonia | |
| Frequent (79-30%) | ||
| HP:0000713 | Agitation | |
| HP:0002329 | Drowsiness | |
| HP:0001069 | Episodic hyperhidrosis | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0001520 | Large for gestational age | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0000980 | Pallor | |
| HP:0001962 | Palpitations | |
| HP:0012051 | Reactive hypoglycemia | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0012734 | Ketotic hypoglycemia | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0009800 | Maternal diabetes | |
| HP:0002591 | Polyphagia | |
| HP:0001518 | Small for gestational age | |
| HP:0001279 | Syncope | |
| Very rare (<4-1%) | ||
| HP:0002240 | Hepatomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 21967988[PMID]_31414570[PMID]_29493090[PMID]_29280746[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324575
- This record as JSON: /data/d/324575.json