Gelastic seizures with hypothalamic hamartoma
Synonyms: GS-HH · Hypothalamic hamartoma with gelastic seizures
- Type
- Disease
- Group
- Disorder
- Status
- active
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gelastic seizures with hypothalamic hamartoma | GS-HH · Hypothalamic hamartoma with gelastic seizures |
| fr | Crises gélastiques avec hamartome hypothalamique | GS-HH · Hamartomes hypothalamiques avec épilepsie gélastique |
| de | Hypothalamus-Hamartom mit gelastischen Anfällen | GS-HH |
| es | Crisis gelásticas con hamartoma hipotalámico | Hamartoma hipotalámico con crisis gelásticas |
| it | Amartomi ipotalamici associati a crisi gelastiche | |
| nl | Gelastische insulten met hypothalamisch hamartoom | GS-HH · Hypothalamisch hamartoom met gelastische epileptische aanvallen |
| pt | Crises gelásticas com hamartomas hipotalámicos | |
| pl | Hamartoma podwzgórza z napadami śmiechu | = en |
| cs | Hypotalamické hamartomy s gelastickými záchvaty | = en |
| uk | Гіпоталамічні гамартоми з еластичними судомами | |
| zh | 下丘脑错构瘤伴痴笑样癫痫 | |
| tr | Jelastik nöbetler ile seyreden hipotalamik hamartomlar |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.5 | NTBT | attributed | validated |
| MONDO | 0019484 | E | validated | |
| UMLS | C4707883 | 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:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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/86906
- This record as JSON: /data/d/86906.json