Desbuquois syndrome
ORPHA:1425Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CSGALNACT1 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 616615 |
| CANT1 | calcium activated nucleotidase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613165 |
| XYLT1 | xylosyltransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608124 |
Фенотипы (HPO)29
Очень частый (80–99%)16
HP:0001382Joint hypermobility
HP:0000470Short neck
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000944Abnormal metaphysis morphology
HP:0001249Intellectual disability
HP:0001591Bell-shaped thorax
HP:0002999Patellar dislocation
HP:0003366Abnormality of the femoral neck or head region
HP:0003510Severe short stature
HP:0005280Depressed nasal bridge
HP:0005616Accelerated skeletal maturation
HP:0008873Disproportionate short-limb short stature
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0100490Camptodactyly of finger
HP:0000463Anteverted nares
Частый (30–79%)13
HP:0000499Abnormal eyelash morphology
HP:0000592Blue sclerae
HP:0001629Ventricular septal defect
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002812Coxa vara
HP:0002816Genu recurvatum
HP:0002974Radioulnar synostosis
HP:0003042Elbow dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0008070Sparse hair
HP:0200055Small hand
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)