Autosomal dominant hypocalcemia
ORPHA:428Clinical subtypeAutosomal dominantAll ages
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)11
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000716Depression
HP:0000739Anxiety
HP:0002150Hypercalciuria
HP:0002356Writer's cramp
HP:0002901Hypocalcemia
HP:0003401Paresthesia
HP:0003457EMG abnormality
HP:0003473Fatigable weakness
HP:0040148Cortical myoclonus
Частый (30–79%)12
HP:0000121Nephrocalcinosis
HP:0000958Dry skin
HP:0001231Abnormal fingernail morphology
HP:0001596Alopecia
HP:0001597Abnormality of the nail
HP:0002027Abdominal pain
HP:0002615Hypotension
HP:0002793Abnormal pattern of respiration
HP:0002905Hyperphosphatemia
HP:0002917Hypomagnesemia
HP:0011675Arrhythmia
HP:0012608Hypermagnesiuria
Периодический (5–29%)7
HP:0000648Optic atrophy
HP:0000964Eczematoid dermatitis
HP:0001635Congestive heart failure
HP:0002516Increased intracranial pressure
HP:0004349Reduced bone mineral density
HP:0004372Reduced consciousness/confusion
HP:0007400Irregular hyperpigmentation
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.161 | Denmark | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 3.9 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)