Generalized arterial calcification of infancy
ORPHA:51608DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)60
Очень частый (80–99%)4
HP:0003207Arterial calcification
HP:0004940Generalized arterial calcification
HP:0004963Calcification of the aorta
HP:0006559Hepatic calcification
Частый (30–79%)17
HP:0000121Nephrocalcinosis
HP:0000365Hearing impairment
HP:0000822Hypertension
HP:0000961Cyanosis
HP:0001561Polyhydramnios
HP:0001717Coronary artery calcification
HP:0002098Respiratory distress
HP:0002749Osteomalacia
HP:0004912Hypophosphatemic rickets
HP:0004966Medial calcification of large arteries
HP:0010766Ectopic calcification
HP:0011968Feeding difficulties
HP:0012408Medullary nephrocalcinosis
HP:0012457Medial calcification of medium-sized arteries
HP:0025116Fetal distress
HP:0025169Left ventricular systolic dysfunction
HP:0025477Periarticular calcification
Периодический (5–29%)24
HP:0000381Stapes ankylosis
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000410Mixed hearing impairment
HP:0000630Abnormal retinal artery morphology
HP:0000737Irritability
HP:0000969Edema
HP:0001531Failure to thrive in infancy
HP:0001541Ascites
HP:0001640Cardiomegaly
HP:0001698Pericardial effusion
HP:0001714Ventricular hypertrophy
HP:0001789Hydrops fetalis
HP:0001945Fever
HP:0002013Vomiting
HP:0002829Arthralgia
HP:0002949Fused cervical vertebrae
HP:0003836Stippled calcification of the shoulder
HP:0003941Stippled calcification of the elbow
HP:0009164Abnormal calcification of the carpal bones
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0012409Cortical nephrocalcinosis
HP:0032553Weak pulse
HP:0200067Recurrent spontaneous abortion
Очень редкий (1–4%)15
HP:0003109Hyperphosphaturia
HP:0005103Calcification of the auricular cartilage
HP:0006690Myocardial calcification
HP:0011344Severe global developmental delay
HP:0011506Choroidal neovascularization
HP:0040197Encephalomalacia
HP:0100758Gangrene
HP:0000573Retinal hemorrhage
HP:0001102Angioid streaks of the fundus
HP:0001250Seizure
HP:0001297Stroke
HP:0002092Pulmonary arterial hypertension
HP:0002326Transient ischemic attack
HP:0002514Cerebral calcification
HP:0002647Aortic dissection
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Worldwide | Value and class |
| Cases/families | — | 300 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)