Autosomal recessive hyperinsulinism due to SUR1 deficiency
Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hyperinsulinism due to SUR1 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency |
| fr | Hyperinsulinisme autosomique récessif par déficit en SUR1 | Hypoglycémie hyperinsulinémique autosomique récessif par déficit en SUR1 |
| de | Hyperinsulinismus durch SUR1-Mangel, autosomal-rezessiver | Hyperinsulinämische Hypoglykämie durch SUR1-Mangel |
| es | Hiperinsulinismo autosómico recesivo por deficiencia de SUR1 | Hipoglucemia hiperinsulinémica autosómica recesiva por deficiencia de SUR1 |
| it | Iperinsulinismo autosomico recessivo da deficit di SUR1 | Ipoglicemia iperinsulinemica autosomica recessiva da deficit di SUR1 |
| nl | Autosomaal recessief hyperinsulinisme als gevolg van SUR1-deficiëntie | Autosomaal recessieve hyperinsulinemische hypoglycemie als gevolg van SUR1-deficiëntie |
| pt | Hiperinsulinismo autossómico recessivo por deficiência de SUR1 | |
| pl | Autosomalny recesywny hiperinsulinizm z powodu niedoboru SUR1 | Autosomalna recesywna hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1 |
| cs | Autozomálně recesivní hyperinzulinismus působený deficitem SUR1 | Autozomálně recesivní hyperinzulinemická hypoglykémie způsobená deficitem SUR1 |
| uk | Аутосомно-рецесивний гіперінсулінізм внаслідок дефіциту SUR1 | Аутосомно-рецесивна гіперінсулінемічна гіпоглікемія внаслідок дефіциту SUR1 |
| zh | SUR1缺乏所致常染色体隐性高胰岛素血症 | SUR1缺乏所致常染色体隐性遗传性高胰岛素血症性低血糖症 |
| tr | SUR1 eksikliğine bağlı otozomal resesif hiperinsülinizm | SUR1 eksikliğine bağlı otozomal Çekinik 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 | 0019333 | E | validated | |
| UMLS | C5191077 | 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:165988Diazoxide-resistant 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 | 15562009[PMID]_25733449[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79643
- This record as JSON: /data/d/79643.json