Dysosteosclerosis
ORPHA:1782Malformation syndromeAutosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TNFRSF11A | TNF receptor superfamily member 11a | Disease-causing germline mutation(s) in | gene with protein product | 603499 |
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Disease-causing germline mutation(s) in | gene with protein product | 604592 |
| SLC29A3 | solute carrier family 29 member 3 | Disease-causing germline mutation(s) in | gene with protein product | 612373 |
Фенотипы (HPO)22
Очень частый (80–99%)21
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0001249Intellectual disability
HP:0001291Abnormal cranial nerve morphology
HP:0001629Ventricular septal defect
HP:0002376Developmental regression
HP:0002514Cerebral calcification
HP:0002757Recurrent fractures
HP:0003301Irregular vertebral endplates
HP:0004322Short stature
HP:0004493Craniofacial hyperostosis
HP:0008479Hypoplastic vertebral bodies
HP:0011001Increased bone mineral density
HP:0100670Rough bone trabeculation
Частый (30–79%)1
HP:0008065Aplasia/Hypoplasia of the skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)