Primary hypergonadotropic hypogonadism-partial alopecia syndrome
ORPHA:2232DiseaseAutosomal recessiveNeonatal
Фенотипы (HPO)41
Облигатный (100%)3
HP:0000815Hypergonadotropic hypogonadism
HP:0002293Alopecia of scalp
HP:0008193Primary gonadal insufficiency
Очень частый (80–99%)24
HP:0000028Cryptorchidism
HP:0000219Thin upper lip vermilion
HP:0000534Abnormal eyebrow morphology
HP:0000786Primary amenorrhea
HP:0000789Infertility
HP:0000802Impotence
HP:0000823Delayed puberty
HP:0000837Increased circulating gonadotropin level
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001510Growth delay
HP:0001596Alopecia
HP:0003187Breast hypoplasia
HP:0003799Marked delay in bone age
HP:0005469Flat occiput
HP:0007464Sparse facial hair
HP:0008187Absence of secondary sex characteristics
HP:0008214Decreased serum estradiol
HP:0008633Agonadism
HP:0008684Aplasia/hypoplasia of the uterus
HP:0010463Aplasia of the ovary
HP:0010464Streak ovary
HP:0011961Non-obstructive azoospermia
HP:0040171Decreased serum testosterone concentration
Частый (30–79%)7
HP:0000252Microcephaly
HP:0001256Intellectual disability, mild
HP:0002225Sparse pubic hair
HP:0002652Skeletal dysplasia
HP:0002808Kyphosis
HP:0002938Lumbar hyperlordosis
HP:0045075Sparse eyebrow
Периодический (5–29%)7
HP:0000365Hearing impairment
HP:0001199Triphalangeal thumb
HP:0003393Thenar muscle atrophy
HP:0006184Decreased palmar creases
HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger
HP:0010487Small hypothenar eminence
HP:0012506Small pituitary gland
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)