Polyendocrine-polyneuropathy syndrome
ORPHA:453533DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)19
HP:0000044Hypogonadotropic hypogonadism
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0001596Alopecia
HP:0001730Progressive hearing impairment
HP:0001761Pes cavus
HP:0001943Hypoglycemia
HP:0002342Intellectual disability, moderate
HP:0005978Type II diabetes mellitus
HP:0007108Demyelinating peripheral neuropathy
HP:0007256Abnormal pyramidal sign
HP:0008734Decreased testicular size
HP:0008897Postnatal growth retardation
HP:0008994Proximal muscle weakness in lower limbs
HP:0030341Decreased circulating follicle stimulating hormone concentration
HP:0030344Decreased circulating luteinizing hormone level
HP:0040171Decreased serum testosterone concentration
HP:0100287EMG: slow motor conduction
Периодический (5–29%)4
HP:0001321Cerebellar hypoplasia
HP:0010627Anterior pituitary hypoplasia
HP:0011787Central hypothyroidism
HP:0040216Hypoinsulinemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)