Osteopetrosis with renal tubular acidosis
ORPHA:2785DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)3
HP:0001947Renal tubular acidosis
HP:0011002Osteopetrosis
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)13
HP:0000164Abnormality of the dentition
HP:0001263Global developmental delay
HP:0001293Cranial nerve compression
HP:0001999Abnormal facial shape
HP:0002049Proximal renal tubular acidosis
HP:0002135Basal ganglia calcification
HP:0002514Cerebral calcification
HP:0002757Recurrent fractures
HP:0002901Hypocalcemia
HP:0003148Elevated serum acid phosphatase
HP:0003236Elevated circulating creatine kinase concentration
HP:0004322Short stature
HP:0008341Distal renal tubular acidosis
Периодический (5–29%)38
HP:0000126Hydronephrosis
HP:0000160Narrow mouth
HP:0000179Thick lower lip vermilion
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000479Abnormal retinal morphology
HP:0000592Blue sclerae
HP:0000648Optic atrophy
HP:0000692Tooth malposition
HP:0000767Pectus excavatum
HP:0000787Nephrolithiasis
HP:0000867Secondary hyperparathyroidism
HP:0001105Retinal atrophy
HP:0001249Intellectual disability
HP:0001328Specific learning disability
HP:0001357Plagiocephaly
HP:0001508Failure to thrive
HP:0001562Oligohydramnios
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001882Leukopenia
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0002518Abnormal periventricular white matter morphology
HP:0002684Thickened calvaria
HP:0004445Elliptocytosis
HP:0005461Craniofacial disproportion
HP:0005528Bone marrow hypocellularity
HP:0006335Persistence of primary teeth
HP:0006641Prominent floating ribs
HP:0006824Cranial nerve paralysis
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0012370Prominence of the zygomatic bone
HP:0030812Enlarged tonsils
Очень редкий (1–4%)6
HP:0000405Conductive hearing impairment
HP:0001942Metabolic acidosis
HP:0002092Pulmonary arterial hypertension
HP:0002273Tetraparesis
HP:0002870Obstructive sleep apnea
HP:0012181Entrapment neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)