Idiopathic pulmonary fibrosis
ORPHA:2032DiseaseMultigenic/multifactorialAdult
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SFTPA1 | surfactant protein A1 | Major susceptibility factor in | gene with protein product | 178630 |
| DSP | desmoplakin | Major susceptibility factor in | gene with protein product | 125647 |
| TERT | telomerase reverse transcriptase | Major susceptibility factor in | gene with protein product | 187270 |
| TERC | telomerase RNA component | Major susceptibility factor in | Non-coding RNA | 602322 |
| MUC5B | mucin 5B, oligomeric mucus/gel-forming | Major susceptibility factor in | gene with protein product | 600770 |
| SFTPA2 | surfactant protein A2 | Major susceptibility factor in | gene with protein product | 178642 |
| RTEL1 | regulator of telomere elongation helicase 1 | Major susceptibility factor in | gene with protein product | 608833 |
| FAM13A | family with sequence similarity 13 member A | Major susceptibility factor in | gene with protein product | 613299 |
| STN1 | STN1 subunit of CST complex | Major susceptibility factor in | gene with protein product | 613128 |
| ATP11A | ATPase phospholipid transporting 11A | Major susceptibility factor in | gene with protein product | 605868 |
| DPP9 | dipeptidyl peptidase 9 | Major susceptibility factor in | gene with protein product | 608258 |
| PARN | poly(A)-specific ribonuclease | Major susceptibility factor in | gene with protein product | 604212 |
| SFTPC | surfactant protein C | Major susceptibility factor in | gene with protein product | 178620 |
| ABCA3 | ATP binding cassette subfamily A member 3 | Candidate gene tested in | gene with protein product | 601615 |
Фенотипы (HPO)20
Очень частый (80–99%)1
HP:0006530Abnormal pulmonary interstitial morphology
Частый (30–79%)16
HP:0001063Acrocyanosis
HP:0002020Gastroesophageal reflux
HP:0002110Bronchiectasis
HP:0002206Pulmonary fibrosis
HP:0002875Exertional dyspnea
HP:0012378Fatigue
HP:0012735Cough
HP:0025175Honeycomb lung
HP:0025179Ground-glass opacification on pulmonary HRCT
HP:0025390Reticular pattern on pulmonary HRCT
HP:0030830Crackles
HP:0031631Subpleural honeycombing
HP:0031950Usual interstitial pneumonia
HP:0032341Reduced forced vital capacity
HP:0045051Decreased DLCO
HP:0100759Clubbing of fingers
Периодический (5–29%)3
HP:0003546Exercise intolerance
HP:0010444Pulmonary insufficiency
HP:0033367Orthodeoxia
Эпидемиология17
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 16.125 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 5.55 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 29.8 | Canada | Value and class |
| Annual incidence | 1-5 / 10 000 | 15.35 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.6 | Finland | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.3 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.2 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.8 | France | Value and class |
| Point prevalence | 1-5 / 10 000 | 21.2 | Italy | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.6 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.9 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 37 | Korea, Republic of | Value and class |
| Annual incidence | 1-5 / 10 000 | 13 | Korea, Republic of | Value and class |
| Point prevalence | 1-5 / 10 000 | 11.6 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.7 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.6 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)