Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Synonyms: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- 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 Kir6.2 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 Kir6.2 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency |
| fr | Hyperinsulinisme autosomique récessif par déficit en Kir6.2 | Hypoglycémie hyperinsulinémique autosomique récessif par déficit en Kir6.2 |
| de | Hyperinsulinismus durch Kir6.2-Mangel, autosomal-rezessiver | Hyperinsulinämische Hypoglykämie durch Kir6.2-Mangel |
| es | Hiperinsulinismo autosómico recesivo por deficiencia de Kir6.2 | Hipoglucemia hiperinsulinémica autosómica recesiva por deficiencia de Kir6.2 |
| it | Iperinsulinismo autosomico recessivo da deficit di Kir6.2 | Ipoglicemia iperinsulinemica autosomica recessiva da deficit di Kir6.2 |
| nl | Autosomaal recessief hyperinsulinisme als gevolg van Kir6.2-deficiëntie | Autosomaal recessieve hyperinsulinemische hypoglycemie als gevolg van Kir6.2-deficiëntie |
| pt | Hiperinsulinismo autossómico recessivo por deficiência de Kir6 | |
| pl | Autosomalny recesywny hiperinsulinizm z powodu niedoboru Kir6.2 | Autosomalna recesywna hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2 |
| cs | Autozomálně recesivní hyperinzulinismus způsobený deficitem Kir6.2 | Autozomálně recesivní hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2 |
| uk | Аутосомно-рецесивний гіперінсулінізм внаслідок дефіциту Kir6.2 | Аутосомно-рецесивна гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2 |
| zh | Kir6.2缺乏所致常染色体隐性高胰岛素血症 | Kir6.2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 | Kir6.2 eksikliğine bağlı otozomal resesif hiperinsülinizm | Kir6.2 eksikliğine bağlı otozomal Çekinik hiperinsülinemik hipoglisemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601820 | NTBT | validated | |
| ICD-10 | E16.1 | NTBT | attributed | validated |
| ICD-11 | 5A45 | NTBT | attributed | validated |
| MONDO | 0019334 | E | validated | |
| UMLS | C5191078 | 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:165988Diazoxide-resistant diffuse hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ11 | Disease-causing germline mutation(s) in | Assessed | HGNC:6257 | ENSG00000187486 | 600937 | 11p15.1 | potassium inwardly rectifying channel subfamily J member 11 | 8923010[PMID]_25733449[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | 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
20 annotations · validated 2021-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000825 | Hyperinsulinemic hypoglycemia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0031080 | Abnormal response to glucagon stimulation test | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0030796 | Increased C-peptide level | |
| HP:0001988 | Recurrent hypoglycemia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0040299 | Decreased circulating free fatty acid level | |
| HP:0031224 | Diffuse pancreatic islet hyperplasia | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0031223 | Focal pancreatic islet hyperplasia | |
| HP:0001520 | Large for gestational age | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0001249 | Intellectual disability | |
| HP:0008194 | Multiple pancreatic beta-cell adenomas | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0002919 | Ketonuria | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 34055426[PMID]_30873120[PMID]_20301549[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79644
- This record as JSON: /data/d/79644.json