Johanson-Blizzard syndrome
ORPHA:2315Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)11
HP:0000164Abnormality of the dentition
HP:0000430Underdeveloped nasal alae
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001596Alopecia
HP:0001732Abnormality of the pancreas
HP:0001738Exocrine pancreatic insufficiency
HP:0002024Malabsorption
HP:0003196Short nose
HP:0004322Short stature
HP:0010720Abnormal hair pattern
Частый (30–79%)14
HP:0000142Abnormality of the vagina
HP:0000407Sensorineural hearing impairment
HP:0000632Lacrimation abnormality
HP:0000677Oligodontia
HP:0000684Delayed eruption of teeth
HP:0000691Microdontia
HP:0001092Absent lacrimal punctum
HP:0001249Intellectual disability
HP:0001545Anteriorly placed anus
HP:0001903Anemia
HP:0002023Anal atresia
HP:0002750Delayed skeletal maturation
HP:0003075Hypoproteinemia
HP:0010460Abnormality of the female genitalia
Периодический (5–29%)12
HP:0000047Hypospadias
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000819Diabetes mellitus
HP:0000969Edema
HP:0001252Hypotonia
HP:0001522Death in infancy
HP:0001651Dextrocardia
HP:0001671Abnormal cardiac septum morphology
HP:0005288Abnormality of the nares
HP:0008736Hypoplasia of penis
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)