Hereditary sensory and autonomic neuropathy type 1
ORPHA:36386DiseaseAutosomal dominantAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ATL1 | atlastin GTPase 1 | Disease-causing germline mutation(s) in | gene with protein product | 606439 |
| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 605712 |
| SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 605713 |
| ATL3 | atlastin GTPase 3 | Disease-causing germline mutation(s) in | gene with protein product | 609369 |
Фенотипы (HPO)29
Очень частый (80–99%)6
HP:0001324Muscle weakness
HP:0002141Gait imbalance
HP:0002270Abnormality of the autonomic nervous system
HP:0002936Distal sensory impairment
HP:0007078Decreased amplitude of sensory action potentials
HP:0031060Impaired ability to dress oneself
Частый (30–79%)13
HP:0000962Hyperkeratosis
HP:0001026Penetrating foot ulcers
HP:0001058Poor wound healing
HP:0002460Distal muscle weakness
HP:0003376Steppage gait
HP:0006937Impaired distal tactile sensation
HP:0007021Pain insensitivity
HP:0007550Hypohidrosis or hyperhidrosis
HP:0009027Foot dorsiflexor weakness
HP:0009763Limb pain
HP:0010829Impaired temperature sensition
HP:0010834Trophic changes related to pain
HP:0200042Skin ulcer
Периодический (5–29%)10
HP:0002540Inability to walk
HP:0002754Osteomyelitis
HP:0002756Pathologic fracture
HP:0002821Neuropathic arthropathy
HP:0003693Distal amyotrophy
HP:0007002Motor axonal neuropathy
HP:0012735Cough
HP:0100287EMG: slow motor conduction
HP:0000365Hearing impairment
HP:0002020Gastroesophageal reflux
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)