Pseudohypoparathyroidism type 1A
ORPHA:79443DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)68
Облигатный (100%)1
HP:0000852Pseudohypoparathyroidism
Очень частый (80–99%)7
HP:0000311Round face
HP:0002901Hypocalcemia
HP:0002905Hyperphosphatemia
HP:0003165Elevated circulating parathyroid hormone level
HP:0003456Low urinary cyclic AMP response to PTH administration
HP:0004322Short stature
HP:0008227Pituitary resistance to thyroid hormone
Частый (30–79%)24
HP:0000293Full cheeks
HP:0000470Short neck
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000684Delayed eruption of teeth
HP:0000824Decreased response to growth hormone stimulation test
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001513Obesity
HP:0002135Basal ganglia calcification
HP:0002591Polyphagia
HP:0002684Thickened calvaria
HP:0004704Short fifth metatarsal
HP:0005280Depressed nasal bridge
HP:0006297Enamel hypoplasia
HP:0006960Choroid plexus calcification
HP:0010027Broad 1st metacarpal
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
HP:0010049Short metacarpal
HP:0010743Short metatarsal
HP:0011001Increased bone mineral density
HP:0011986Ectopic ossification
HP:0012185Constrictive median neuropathy
Периодический (5–29%)32
HP:0000737Irritability
HP:0000739Anxiety
HP:0000815Hypergonadotropic hypogonadism
HP:0000822Hypertension
HP:0000876Oligomenorrhea
HP:0001265Hyporeflexia
HP:0001266Choreoathetosis
HP:0001289Confusion
HP:0001657Prolonged QT interval
HP:0002094Dyspnea
HP:0002176Spinal cord compression
HP:0002514Cerebral calcification
HP:0003394Muscle spasm
HP:0003401Paresthesia
HP:0003472Hypocalcemic tetany
HP:0003739Myoclonic spasms
HP:0003761Calcinosis
HP:0004305Involuntary movements
HP:0004349Reduced bone mineral density
HP:0004438Hyperostosis frontalis interna
HP:0009642Broad distal phalanx of the thumb
HP:0010041Short 3rd metacarpal
HP:0011458Abdominal symptom
HP:0011869Abnormal platelet function
HP:0012049Laryngeal dystonia
HP:0025027Osteoma cutis
HP:0100749Chest pain
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000509Conjunctivitis
HP:0000585Band keratopathy
HP:0000716Depression
Очень редкий (1–4%)3
HP:0002199Hypocalcemic seizures
HP:0003528Elevated calcitonin
HP:0008202Reduced circulating prolactin concentration
Исключён (0%)1
HP:0030057Autoimmune antibody positivity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)