Hyperinsulinism-hyperammonemia syndrome
Synonyms: HI/HA syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperinsulinism-hyperammonemia syndrome | HI/HA syndrome |
| fr | Syndrome d'hyperinsulinisme et hyperammoniémie | Syndrome HI/HA |
| de | Hyperinsulinismus-Hyperammonämie-Syndrom | HI/HA-Syndrom |
| es | Síndrome de hiperinsulinismo-hiperamonemia | Síndrome HI/HA |
| it | Sindrome iperinsulinismo-iperammoniemia | Sindrome HI/HA |
| nl | Hyperinsulinisme - hyperammoniëmie-syndroom | HI/HA-syndroom |
| pt | Síndrome de hiperinsulinismo-hiperamoniemia | |
| pl | Zespół hiperinsulinizm-hiperammonemia | Zespół HI/HA |
| cs | Syndrom zahrnující hyperinzulinismus a hyperamonémii | HI/HA syndrom |
| uk | Синдром гіперінсулінізму-гіперамоніємії | Синдром HI/HA |
| zh | 高胰岛素-高血氨综合征 | HI/HA综合征 |
| tr | Hiperinsülinizm-hiperammonemi sendromu | HI/HA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606762 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.AY | NTBT | index | validated |
| MONDO | 0011717 | E | validated | |
| MeSH | C538375 | E | validated | |
| UMLS | C1847555 | E | validated | |
| GARD | 9931 | 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:165985Diazoxide-sensitive diffuse hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:79167Disorder of urea cycle metabolism and ammonia detoxification
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLUD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4335 | ENSG00000148672 | 138130 | 10q23.2 | glutamate dehydrogenase 1 | 9571255[PMID]_20936362[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
12 annotations · validated 2019-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008162 | Asymptomatic hyperammonemia | |
| HP:0012051 | Reactive hypoglycemia | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 11241047[PMID]_21130127[PMID]_14967154[PMID]_20936362[PMID]_11518822[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35878
- This record as JSON: /data/d/35878.json