Autosomal dominant hyperinsulinism due to SUR1 deficiency
Synonyms: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to <i>ABCC8</i> variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant hyperinsulinism due to SUR1 deficiency | Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency |
| fr | Hyperinsulinisme autosomique dominant par déficit en SUR1 | Hypoglycémie hyperinsulinémique autosomique dominant par déficit en SUR1 |
| de | Hyperinsulinismus durch SUR1-Mangel, autosomal-dominanter | Hypoglykämie, hyperinsulinämische, durch SUR1-Mangel |
| es | Hiperinsulinismo autosómico dominante por deficiencia de SUR1 | Hipoglucemia hiperinsulinémica autosómica dominante por deficiencia de SUR1 |
| it | Iperinsulinismo autosomico dominante da deficit di SUR1 | Ipoglicemia iperinsulinemica autosomica dominante da deficit di SUR1 |
| nl | Autosomaal dominant hyperinsulinisme door SUR1-deficiëntie | Autosomaal dominante hyperinsulinemische hypoglycemie door SUR1-deficiëntie |
| pt | Hiperinsulinismo autossómico dominante por deficiência de SUR1 | |
| pl | Autosomalny dominujący hiperinsulinizm z powodu niedoboru SUR1 | Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1 |
| cs | Autozomálně dominantní hyperinzulinismus způsobený deficitem SUR1 | Autozomálně dominantní hyperinzulinemická hypoglykémie způsobená deficitem SUR1 |
| uk | Аутосомно-домінантний гіперінсулінізм внаслідок дефіциту SUR1 | Аутосомно-домінантна гіперінсулінемічна гіпоглікемія внаслідок дефіциту SUR1 |
| zh | SUR1基因缺陷所致常染色体显性高胰岛素血症 | SUR1基因缺陷所致常染色体显性高胰岛素低血糖症 |
| tr | SUR1 eksikliğine bağlı otozomal dominant hiperinsülinizm | SUR1 eksikliğine bağlı otozomal baskın hiperinsülinemik hipoglisemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256450 | NTBT | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | attributed | validated |
| MONDO | 0017184 | E | validated | |
| UMLS | C4274080 | 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 |
|---|---|---|---|---|---|---|---|---|
| ABCC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:59 | ENSG00000006071 | 600509 | 11p15.1 | ATP binding cassette subfamily C member 8 | 11018078[PMID]_25733449[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
28 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:0003162 | Fasting hypoglycemia | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0030796 | Increased C-peptide level | |
| Frequent (79-30%) | ||
| HP:0000713 | Agitation | |
| HP:0031224 | Diffuse pancreatic islet hyperplasia | |
| HP:0002329 | Drowsiness | |
| HP:0001069 | Episodic hyperhidrosis | |
| HP:0031223 | Focal pancreatic islet hyperplasia | |
| HP:0002173 | Hypoglycemic seizures | |
| HP:0001520 | Large for gestational age | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0000980 | Pallor | |
| HP:0001962 | Palpitations | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001325 | Hypoglycemic coma | |
| HP:0001254 | Lethargy | |
| HP:0007185 | Loss of consciousness | |
| HP:0002591 | Polyphagia | |
| HP:0002133 | Status epilepticus | |
| HP:0001279 | Syncope | |
| Very rare (<4-1%) | ||
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 21967988[PMID]_29280746[PMID]_23275527[PMID]_29750770[PMID]_31414570[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276575
- This record as JSON: /data/d/276575.json