Congenital central hypoventilation syndrome
ORPHA:661DiseaseAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LBX1 | ladybird homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 604255 |
| PHOX2B | paired like homeobox 2B | Disease-causing germline mutation(s) in | gene with protein product | 603851 |
| EDN3 | endothelin 3 | Candidate gene tested in | gene with protein product | 131242 |
| GDNF | glial cell derived neurotrophic factor | Candidate gene tested in | gene with protein product | 600837 |
| MYO1H | myosin IH | Disease-causing germline mutation(s) in | gene with protein product | 614636 |
| BDNF | brain derived neurotrophic factor | Candidate gene tested in | gene with protein product | 113505 |
Фенотипы (HPO)10
Очень частый (80–99%)2
HP:0002093Respiratory insufficiency
HP:0002270Abnormality of the autonomic nervous system
Периодический (5–29%)8
HP:0001250Seizure
HP:0001252Hypotonia
HP:0002251Aganglionic megacolon
HP:0003005Ganglioneuroma
HP:0003006Neuroblastoma
HP:0006747Ganglioneuroblastoma
HP:0100006Neoplasm of the central nervous system
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | France | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)