Jeune syndrome
ORPHA:474Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KIAA0753 | KIAA0753 | Disease-causing germline mutation(s) in | gene with protein product | 617112 |
| DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 617083 |
| IFT80 | intraflagellar transport 80 | Disease-causing germline mutation(s) in | gene with protein product | 611177 |
| DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 603297 |
| TTC21B | tetratricopeptide repeat domain 21B | Disease-causing germline mutation(s) in | gene with protein product | 612014 |
| WDR19 | WD repeat domain 19 | Disease-causing germline mutation(s) in | gene with protein product | 608151 |
| IFT140 | intraflagellar transport 140 | Disease-causing germline mutation(s) in | gene with protein product | 614620 |
| DYNC2I1 | dynein 2 intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 615462 |
| IFT172 | intraflagellar transport 172 | Disease-causing germline mutation(s) in | gene with protein product | 607386 |
| DYNC2I2 | dynein 2 intermediate chain 2 | Disease-causing germline mutation(s) in | gene with protein product | 613363 |
| CEP120 | centrosomal protein 120 | Disease-causing germline mutation(s) in | gene with protein product | 613446 |
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0010306Short thorax
Частый (30–79%)7
HP:0000766Abnormal sternum morphology
HP:0000889Abnormality of the clavicle
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001773Short foot
HP:0002093Respiratory insufficiency
HP:0010579Cone-shaped epiphysis
Периодический (5–29%)11
HP:0000083Renal insufficiency
HP:0000090Nephronophthisis
HP:0000112Nephropathy
HP:0001162Postaxial hand polydactyly
HP:0001392Abnormality of the liver
HP:0001770Toe syndactyly
HP:0001830Postaxial foot polydactyly
HP:0004322Short stature
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0007703Abnormality of retinal pigmentation
HP:0008872Feeding difficulties in infancy
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.89 | Australia | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)