Pseudohypoparathyroidism type 1B
ORPHA:94089DiseaseAutosomal dominant, Not applicableAdolescent, Childhood, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)39
Облигатный (100%)1
HP:0000852Pseudohypoparathyroidism
Очень частый (80–99%)4
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
HP:0003165Elevated circulating parathyroid hormone level
HP:0003456Low urinary cyclic AMP response to PTH administration
Частый (30–79%)9
HP:0000293Full cheeks
HP:0000311Round face
HP:0000470Short neck
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000684Delayed eruption of teeth
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0006297Enamel hypoplasia
Периодический (5–29%)19
HP:0000509Conjunctivitis
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0001265Hyporeflexia
HP:0001657Prolonged QT interval
HP:0002094Dyspnea
HP:0003034Diaphyseal sclerosis
HP:0003394Muscle spasm
HP:0003401Paresthesia
HP:0003472Hypocalcemic tetany
HP:0003739Myoclonic spasms
HP:0003909Cortical subperiosteal resorption of humeral metaphyses
HP:0005700Increased bone density with cystic changes
HP:0011001Increased bone mineral density
HP:0011458Abdominal symptom
HP:0012049Laryngeal dystonia
HP:0100660Dyskinesia
HP:0100749Chest pain
Очень редкий (1–4%)3
HP:0000824Decreased response to growth hormone stimulation test
HP:0002199Hypocalcemic seizures
HP:0008227Pituitary resistance to thyroid hormone
Исключён (0%)3
HP:0003761Calcinosis
HP:0010766Ectopic calcification
HP:0030057Autoimmune antibody positivity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)