Distal arthrogryposis type 1
ORPHA:1146Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены6
| 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 |
| MYBPC1 | myosin binding protein C1 | Disease-causing germline mutation(s) in | gene with protein product | 160794 |
Фенотипы (HPO)9
Очень частый (80–99%)2
HP:0001181Adducted thumb
HP:0010557Overlapping fingers
Частый (30–79%)4
HP:0001387Joint stiffness
HP:0001883Talipes
HP:0009465Ulnar deviation of finger
HP:0100490Camptodactyly of finger
Периодический (5–29%)3
HP:0000160Narrow mouth
HP:0001838Rocker bottom foot
HP:0003272Abnormality of the hip bone
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)