Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Synonyms: Dominant KATP hyperinsulinism due to Kir6.2 deficiency · Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | Dominant KATP hyperinsulinism due to Kir6.2 deficiency · Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency |
| fr | Hyperinsulinisme autosomique dominant par déficit en Kir6.2 | Hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2 |
| de | Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter | Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel |
| es | Hiperinsulinismo autosómico dominante por deficiencia de Kir6.2 | Hipoglucemia hiperinsulinémica autosómica dominante por deficiencia de Kir6.2 |
| it | Iperinsulinismo autosomico dominante da deficit di Kir6.2 | Ipoglicemia iperinsulinemica autosomica dominante da deficit di Kir6.2 |
| nl | Autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie | Autosomaal dominante hyperinsulinemische hypoglycemie door Kir6.2-deficiëntie · Dominant KATP-hyperinsulinisme door Kir6.2-deficiëntie |
| pt | Hiperinsulinismo autossómico dominante por deficiência de Kir6.2 | |
| pl | Autosomalny dominujący hiperinsulinizm z powodu niedoboru Kir6.2 | Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2 |
| cs | Autozomálně dominantní hyperinzulinismus způsobený deficitem Kir6.2 | Autozomálne dominantní hyperinzulinemická hypoglykémie zpusobená deficitem Kir6.2 · Autozomálně dominantní hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2 · Dominantní KATP hyperinzulinismus způsobený deficitem Kir6.2 |
| uk | Аутосомно-домінантний гіперінсулінізм внаслідок дефіциту Kir6.2 | Аутосомно-домінантна гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2 · Домінантний KATP-гіперінсулінізм внаслідок дефіциту Kir6.2 |
| zh | Kir6.2缺乏所致常染色体显性高胰岛素血症 | Kir6.2缺陷所致常染色体显性高胰岛素低血糖 |
| tr | Kir6.2 eksikliğine bağlı otozomal dominant hiperinsülinizm | Kir6.2 eksikliğine bağlı baskın KATP hiperinsülinizm · Kir6.2 eksikliğine bağlı otozomal baskın 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 | 0017185 | E | validated | |
| UMLS | C4274081 | 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 |
|---|---|---|---|---|---|---|---|---|
| KCNJ11 | Disease-causing germline mutation(s) in | Assessed | HGNC:6257 | ENSG00000187486 | 600937 | 11p15.1 | potassium inwardly rectifying channel subfamily J member 11 | 18596924[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
29 annotations · validated 2021-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| 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:0004924 | Abnormal oral glucose tolerance | |
| HP:0000713 | Agitation | |
| HP:0031224 | Diffuse pancreatic islet hyperplasia | |
| HP:0002329 | Drowsiness | |
| HP:0001069 | Episodic hyperhidrosis | |
| 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:0009800 | Maternal diabetes | |
| HP:0001324 | Muscle weakness | |
| 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 6 obligate / very frequent terms
Annotation source: 31414570[PMID]_29280746[PMID]_21967988[PMID]_31464105[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276580
- This record as JSON: /data/d/276580.json