Limited cutaneous systemic sclerosis
ORPHA:220402Clinical subtypeMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены6
| 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 |
| KIAA0319L | KIAA0319 like | Major susceptibility factor in | gene with protein product | 613535 |
| CCR6 | C-C motif chemokine receptor 6 | Major susceptibility factor in | gene with protein product | 601835 |
Фенотипы (HPO)15
Очень частый (80–99%)5
HP:0000951Abnormality of the skin
HP:0001000Abnormality of skin pigmentation
HP:0001053Hypopigmented skin patches
HP:0002960Autoimmunity
HP:0100958Narrow foramen obturatorium
Частый (30–79%)6
HP:0002015Dysphagia
HP:0002017Nausea and vomiting
HP:0002020Gastroesophageal reflux
HP:0100579Mucosal telangiectasiae
HP:0100585Telangiectasia of the skin
HP:0200042Skin ulcer
Периодический (5–29%)4
HP:0002092Pulmonary arterial hypertension
HP:0002206Pulmonary fibrosis
HP:0008366Foot joint contracture
HP:0009473Joint contracture of the hand
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)