Autosomal recessive malignant osteopetrosis
ORPHA:667Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CLCN7 | chloride voltage-gated channel 7 | Disease-causing germline mutation(s) in | gene with protein product | 602727 |
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604592 |
| TNFSF11 | TNF superfamily member 11 | Disease-causing germline mutation(s) in | gene with protein product | 602642 |
| SNX10 | sorting nexin 10 | Disease-causing germline mutation(s) in | gene with protein product | 614780 |
Фенотипы (HPO)43
Очень частый (80–99%)35
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000388Otitis media
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000649Abnormality of visual evoked potentials
HP:0000684Delayed eruption of teeth
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0000944Abnormal metaphysis morphology
HP:0000980Pallor
HP:0001337Tremor
HP:0001363Craniosynostosis
HP:0001510Growth delay
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0001939Abnormality of metabolism/homeostasis
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002257Chronic rhinitis
HP:0002653Bone pain
HP:0002716Lymphadenopathy
HP:0002757Recurrent fractures
HP:0004349Reduced bone mineral density
HP:0004370Abnormality of temperature regulation
HP:0005930Abnormality of epiphysis morphology
HP:0006323Premature loss of primary teeth
HP:0006487Bowing of the long bones
HP:0007807Optic nerve compression
HP:0008066Abnormal blistering of the skin
HP:0010543Opsoclonus
HP:0010719Abnormality of hair texture
HP:0011002Osteopetrosis
HP:0100022Abnormality of movement
Периодический (5–29%)8
HP:0000978Bruising susceptibility
HP:0001641Abnormal pulmonary valve morphology
HP:0002092Pulmonary arterial hypertension
HP:0002104Apnea
HP:0002148Hypophosphatemia
HP:0002901Hypocalcemia
HP:0004415Pulmonary artery stenosis
HP:0006824Cranial nerve paralysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)