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.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 8
| HPO ID |
Term |
Frequency |
| HP:0000615 |
Abnormal pupil morphology |
Very frequent (99-80%) |
| HP:0000975 |
Hyperhidrosis |
Very frequent (99-80%) |
| HP:0001250 |
Seizures |
Very frequent (99-80%) |
| HP:0001657 |
Prolonged QT interval |
Very frequent (99-80%) |
| HP:0002251 |
Aganglionic megacolon |
Very frequent (99-80%) |
| HP:0004375 |
Neoplasm of the nervous system |
Very frequent (99-80%) |
| HP:0006747 |
Ganglioneuroblastoma |
Very frequent (99-80%) |
| HP:0011675 |
Arrhythmia |
Very frequent (99-80%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
| Gene Symbol |
Gene Name |
Entrez Gene ID |
| PHOX2B |
paired like homeobox 2B |
8929 |
