Sheldon-Hall syndrome
ORPHA:1147Malformation syndromeAutosomal dominant, Not applicableNeonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NALCN | sodium leak channel, non-selective | Disease-causing germline mutation(s) in | gene with protein product | 611549 |
| TNNI2 | troponin I2, fast skeletal type | Disease-causing germline mutation(s) in | gene with protein product | 191043 |
| TNNT3 | troponin T3, fast skeletal type | Disease-causing germline mutation(s) in | gene with protein product | 600692 |
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in | gene with protein product | 190990 |
| MYH3 | myosin heavy chain 3 | Disease-causing germline mutation(s) in | gene with protein product | 160720 |
Фенотипы (HPO)20
Очень частый (80–99%)6
HP:0000465Webbed neck
HP:0001181Adducted thumb
HP:0001387Joint stiffness
HP:0002650Scoliosis
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007598Bilateral single transverse palmar creases
Частый (30–79%)14
HP:0000218High palate
HP:0000275Narrow face
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0003049Ulnar deviation of the wrist
HP:0003272Abnormality of the hip bone
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0008368Tarsal synostosis
HP:0009465Ulnar deviation of finger
HP:0010557Overlapping fingers
HP:0100830Round ear
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)