Hereditary sensory and autonomic neuropathy type 2
ORPHA:970DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN9A | sodium voltage-gated channel alpha subunit 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603415 |
| WNK1 | WNK lysine deficient protein kinase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605232 |
| RETREG1 | reticulophagy regulator 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613114 |
| KIF1A | kinesin family member 1A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601255 |
Фенотипы (HPO)15
Очень частый (80–99%)15
HP:0000975Hyperhidrosis
HP:0001182Tapered finger
HP:0001810Dystrophic toenail
HP:0001842Acroosteolysis (feet)
HP:0002645Wormian bones
HP:0002797Osteolysis
HP:0002815Abnormality of the knee
HP:0003028Abnormality of the ankles
HP:0003103Abnormal cortical bone morphology
HP:0003202Skeletal muscle atrophy
HP:0003272Abnormality of the hip bone
HP:0003307Hyperlordosis
HP:0004349Reduced bone mineral density
HP:0005930Abnormality of epiphysis morphology
HP:0008391Dystrophic fingernails
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | 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)