Hirschsprung disease-ganglioneuroblastoma syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hirschsprung disease-ganglioneuroblastoma syndrome | |
| fr | Ganglioneurome de Hirschsprung | |
| de | Hirschsprung-Krankheit-Ganglioneuroblastom-Syndrom | |
| es | Síndrome de enfermedad de Hirschsprung-ganglioneuroma | |
| it | Malattia di Hirschsprung associata al ganglioneuroblastoma | |
| nl | Ziekte van Hirschsprung - ganglioneuroblastoom-syndroom | |
| pt | Síndrome de doença Hirschsprung-ganglioneuroblastoma | |
| pl | Choroba Hirschsprunga - ganglioneuroblastoma | |
| cs | Syndrom zahrnující Hirschprungovu nemoc a ganglioneuroblastom | |
| uk | Синдром хвороби Гіршпрунга з гангліоневробластомою | |
| zh | 先天性巨结肠-节细胞神经母细胞瘤综合征 | |
| tr | Hirschsprung hastalığı-ganglionöroblastom sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q43.1 | NTBT | attributed | validated |
| MONDO | 0013082 | E | validated | |
| MeSH | C538119 | E | validated | |
| UMLS | C5191058 | E | validated | |
| GARD | 2695 | 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 (3):
- ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHOX2B | Major susceptibility factor in | Assessed | HGNC:9143 | ENSG00000109132 | 603851 | 4p13 | paired like homeobox 2B | 15024693[PMID]_26011159[PMID]_28371199[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0011675 | Arrhythmia | |
| HP:0006747 | Ganglioneuroblastoma | |
| HP:0000975 | Hyperhidrosis | |
| HP:0004375 | Neoplasm of the nervous system | |
| HP:0001657 | Prolonged QT interval | |
| HP:0001250 | Seizure | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2151
- This record as JSON: /data/d/2151.json