Kallmann syndrome-heart disease syndrome
ORPHA:2326Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)29
Облигатный (100%)1
HP:0000044Hypogonadotropic hypogonadism
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0010632Total anosmia
Частый (30–79%)21
HP:0000054Micropenis
HP:0000104Renal agenesis
HP:0000175Cleft palate
HP:0000200Short lingual frenulum
HP:0000407Sensorineural hearing impairment
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000961Cyanosis
HP:0001510Growth delay
HP:0001644Dilated cardiomyopathy
HP:0001719Double outlet right ventricle
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0004971Pulmonary artery hypoplasia
HP:0008689Bilateral cryptorchidism
HP:0008734Decreased testicular size
HP:0010633Partial anosmia
HP:0011638Anomalous origin of left coronary artery from the pulmonary artery
HP:0012020Right aortic arch
HP:0030148Heart murmur
Периодический (5–29%)5
HP:0001635Congestive heart failure
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0005211Midgut malrotation
HP:0010444Pulmonary insufficiency
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)