Haddad syndrome
ORPHA:99803Malformation syndromeAutosomal dominant, Multigenic/multifactorialInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PHOX2B | paired like homeobox 2B | Disease-causing germline mutation(s) in | gene with protein product | 603851 |
| RET | ret proto-oncogene | Disease-causing germline mutation(s) in | gene with protein product | 164761 |
| ASCL1 | achaete-scute family bHLH transcription factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 100790 |
Фенотипы (HPO)19
Очень частый (80–99%)8
HP:0000486Strabismus
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0002251Aganglionic megacolon
HP:0005957Breathing dysregulation
HP:0007110Central hypoventilation
HP:0010536Central sleep apnea
HP:0012332Abnormal autonomic nervous system physiology
Частый (30–79%)5
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001522Death in infancy
HP:0002020Gastroesophageal reflux
Периодический (5–29%)6
HP:0000407Sensorineural hearing impairment
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001562Oligohydramnios
HP:0003005Ganglioneuroma
HP:0003006Neuroblastoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)