Intermediate osteopetrosis
ORPHA:210110Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Disease-causing germline mutation(s) in | gene with protein product | 604592 |
| CLCN7 | chloride voltage-gated channel 7 | Disease-causing germline mutation(s) in | gene with protein product | 602727 |
| PLEKHM1 | pleckstrin homology and RUN domain containing M1 | Disease-causing germline mutation(s) in | gene with protein product | 611466 |
Фенотипы (HPO)23
Очень частый (80–99%)1
HP:0004348Abnormality of bone mineral density
Частый (30–79%)8
HP:0002659Increased susceptibility to fractures
HP:0002757Recurrent fractures
HP:0003418Back pain
HP:0004618Sandwich appearance of vertebral bodies
HP:0004975Erlenmeyer flask deformity of the femurs
HP:0005652Cortical sclerosis
HP:0005746Osteosclerosis of the base of the skull
HP:0005789Generalized osteosclerosis
Периодический (5–29%)3
HP:0000707Abnormality of the nervous system
HP:0001903Anemia
HP:0003155Elevated circulating alkaline phosphatase concentration
Очень редкий (1–4%)9
HP:0000164Abnormality of the dentition
HP:0000505Visual impairment
HP:0000689Dental malocclusion
HP:0001293Cranial nerve compression
HP:0001433Hepatosplenomegaly
HP:0002754Osteomyelitis
HP:0006482Abnormal dental morphology
HP:0007958Optic atrophy from cranial nerve compression
HP:0031035Chronic infection
Исключён (0%)2
HP:0001873Thrombocytopenia
HP:0002901Hypocalcemia
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)