Woodhouse-Sakati syndrome
ORPHA:3464DiseaseAutosomal recessiveAdolescent, Childhood
Фенотипы (HPO)35
Очень частый (80–99%)29
HP:0000013Hypoplasia of the uterus
HP:0000054Micropenis
HP:0000135Hypogonadism
HP:0000411Protruding ear
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0000824Decreased response to growth hormone stimulation test
HP:0000831Insulin-resistant diabetes mellitus
HP:0000842Hyperinsulinemia
HP:0000938Osteopenia
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001266Choreoathetosis
HP:0001268Mental deterioration
HP:0001332Dystonia
HP:0001510Growth delay
HP:0001596Alopecia
HP:0002750Delayed skeletal maturation
HP:0003077Hyperlipidemia
HP:0005135Abnormal T-wave
HP:0008209Premature ovarian insufficiency
HP:0008214Decreased serum estradiol
HP:0008619Bilateral sensorineural hearing impairment
HP:0008669Abnormal spermatogenesis
HP:0008697Hypoplasia of the fallopian tube
HP:0008734Decreased testicular size
HP:0010464Streak ovary
HP:0040171Decreased serum testosterone concentration
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)6
HP:0000325Triangular face
HP:0000448Prominent nose
HP:0000674Anodontia
HP:0000709Psychosis
HP:0000738Hallucinations
HP:0040189Scaling skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | Worldwide | Family(ies) |
| 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)