Non-acquired isolated growth hormone deficiency
ORPHA:631DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveNeonatal
Фенотипы (HPO)19
Очень частый (80–99%)4
HP:0000830Anterior hypopituitarism
HP:0001510Growth delay
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
Частый (30–79%)13
HP:0000295Doll-like facies
HP:0000823Delayed puberty
HP:0000824Decreased response to growth hormone stimulation test
HP:0001620Abnormally high-pitched voice
HP:0001998Neonatal hypoglycemia
HP:0003199Decreased muscle mass
HP:0005280Depressed nasal bridge
HP:0006579Prolonged neonatal jaundice
HP:0008070Sparse hair
HP:0011220Prominent forehead
HP:0012743Abdominal obesity
HP:0030353Decreased serum insulin-like growth factor 1
HP:0100678Premature skin wrinkling
Периодический (5–29%)2
HP:0002857Genu valgum
HP:0030260Microphallus
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)