Diffuse cutaneous systemic sclerosis
ORPHA:220393Clinical subtypeMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CAV1 | caveolin 1 | Major susceptibility factor in | gene with protein product | 601047 |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | Major susceptibility factor in | gene with protein product | 142857 |
| CCN2 | cellular communication network factor 2 | Major susceptibility factor in | gene with protein product | 121009 |
| IRF5 | interferon regulatory factor 5 | Major susceptibility factor in | gene with protein product | 607218 |
| CCR6 | C-C motif chemokine receptor 6 | Major susceptibility factor in | gene with protein product | 601835 |
Фенотипы (HPO)26
Очень частый (80–99%)7
HP:0000951Abnormality of the skin
HP:0002020Gastroesophageal reflux
HP:0002094Dyspnea
HP:0002113Pulmonary infiltrates
HP:0002960Autoimmunity
HP:0100520Oliguria
HP:0100958Narrow foramen obturatorium
Частый (30–79%)13
HP:0000217Xerostomia
HP:0000670Carious teeth
HP:0001324Muscle weakness
HP:0001369Arthritis
HP:0001371Flexion contracture
HP:0002015Dysphagia
HP:0002024Malabsorption
HP:0002206Pulmonary fibrosis
HP:0002797Osteolysis
HP:0002829Arthralgia
HP:0030016Dyspareunia
HP:0100585Telangiectasia of the skin
HP:0200042Skin ulcer
Периодический (5–29%)6
HP:0000083Renal insufficiency
HP:0001635Congestive heart failure
HP:0002017Nausea and vomiting
HP:0002092Pulmonary arterial hypertension
HP:0030142Abnormal bowel sounds
HP:0100735Hypertensive crisis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.8 | Taiwan, Province of China | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.5 | Taiwan, Province of China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)