ANE syndrome
ORPHA:157954DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)28
Частый (30–79%)25
HP:0000044Hypogonadotropic hypogonadism
HP:0000252Microcephaly
HP:0000668Hypodontia
HP:0000670Carious teeth
HP:0000771Gynecomastia
HP:0000823Delayed puberty
HP:0000824Decreased response to growth hormone stimulation test
HP:0000953Hyperpigmentation of the skin
HP:0001249Intellectual disability
HP:0001596Alopecia
HP:0002333Motor deterioration
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0002828Multiple joint contractures
HP:0004322Short stature
HP:0006480Premature loss of teeth
HP:0007373Motor neuron atrophy
HP:0007481Hyperpigmented nevi
HP:0009487Ulnar deviation of the hand
HP:0010627Anterior pituitary hypoplasia
HP:0011735Adrenocorticotropin deficient adrenal insufficiency
HP:0030353Decreased serum insulin-like growth factor 1
HP:0031074Abnormal response to ACTH stimulation test
HP:0040171Decreased serum testosterone concentration
HP:0100578Lipoatrophy
Периодический (5–29%)3
HP:0003700Generalized amyotrophy
HP:0008202Reduced circulating prolactin concentration
HP:0008245Pituitary hypothyroidism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)