ORPHA:263455
Congenital hyperinsulinism due to HNF4A deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to HNF4A deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hyperinsulinism due to HNF4A deficiency | Hyperinsulinemic hypoglycemia due to HNF4A deficiency |
| fr | Hyperinsulinisme congénital par déficit en HNF4A | Hypoglycémie hyperinsulinémique par déficit en HNF4A |
| de | Hyperinsulinismus durch HNF4A-Mangel | Hypoglykämie, hyperinsulinämische, durch HNF4A-Mangel |
| es | Hiperinsulinismo congénito por deficiencia de HNF4A | Hipoglucemia hiperinsulinémica por deficiencia de HNF4A |
| it | Iperinsulinismo congenito da deficit di HNF4A | Ipoglicemia iperinsulinemica da deficit di HNF4A |
| nl | Congenitaal hyperinsulinisme door HNF4A-deficiëntie | Hyperinsulinemische hypoglycemie door HNF4A-deficiëntie |
| pt | Hiperinsulinismo congénito por deficiência de HNF4A | Hipoglicémia hiperinsulinémica por deficiência de HNF4A |
| pl | Hiperinsulinizm z powodu niedoboru HNF4A | Hipoglikemia hiperinsulinemiczna z powodu niedoboru HNF4A · Wrodzony hiperinsulinizm z powodu niedoboru HNF4A |
| cs | Hyperinzulinémie způsobená deficitem HNF4A | Hyperinzulinemická hypoglykémie způsobená deficitem HNF4A |
| uk | Вроджений гіперінсулінізм, зумовлений дефіцитом HNF4A | Гіперінсулінемічна гіпоглікемія внаслідок дефіциту HNF4A |
| zh | HNF4A基因缺陷所致高胰岛素血症 | HNF4A基因缺陷所致的高胰岛素低血糖 |
| tr | HNF4A eksikliğine bağlı hiperinsülinizm | HNF4A eksikliğine bağlı hiperinsülinemik hipoglisemi |
Definition in:
2
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 | 0016988 | E | validated | |
| MONDO | 16988 | E | validated | |
| UMLS | C4274078 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF4A | Disease-causing germline mutation(s) in | Assessed | HGNC:5024 | ENSG00000101076 | 600281 | 20q13.12 | hepatocyte nuclear factor 4 alpha | 20931292[PMID]_25733449[PMID] |
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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.
6
HPO phenotypes
33 annotations · validated 2016-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004359 | Abnormal circulating fatty-acid concentration | |
| HP:0000713 | Agitation | |
| HP:0001259 | Coma | |
| HP:0002329 | Drowsiness | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0004324 | Increased body weight | |
| HP:0001520 | Large for gestational age | |
| HP:0001254 | Lethargy | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000980 | Pallor | |
| HP:0004510 | Pancreatic islet-cell hyperplasia | |
| HP:0001649 | Tachycardia | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0002014 | Diarrhea | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0003076 | Glycosuria | |
| HP:0004912 | Hypophosphatemic rickets | |
| HP:0006568 | Increased hepatic glycogen content | |
| HP:0001249 | Intellectual disability | |
| HP:0005979 | Metabolic ketoacidosis | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000093 | Proteinuria | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0001250 | Seizure | |
| HP:0002013 | Vomiting | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21967988[PMID]_22802087[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263455
- This record as JSON: /data/d/263455.json