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COPD, severe early onset

MedGen UID:
376022
Concept ID:
C1847014
Disease or Syndrome
Synonym: Pulmonary disease, chronic obstructive, severe early-onset
 
Genes (locations): HMOX1 (22q12.3); MMP1 (11q22.2)
 
Monarch Initiative: MONDO:0011751
OMIM®: 606963

Clinical features

From HPO
Chronic obstructive pulmonary disease
MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).

Professional guidelines

PubMed

Zuo X, Guo X, Gu Y, Zheng H, Zhou Z, Wang X, Jiang S, Wang G, Xu C, Wang F
Int J Mol Sci 2022 Nov 20;23(22) doi: 10.3390/ijms232214427. PMID: 36430906Free PMC Article
Martinez-Garcia MA, Garcia-Ortega A, Oscullo G
NPJ Prim Care Respir Med 2022 Sep 8;32(1):33. doi: 10.1038/s41533-022-00297-5. PMID: 36075906Free PMC Article
Lococo F, Cesario A, Del Bufalo A, Ciarrocchi A, Prinzi G, Mina M, Bonassi S, Russo P
Curr Med Chem 2015;22(32):3655-75. doi: 10.2174/0929867322666150904113032. PMID: 26337103

Recent clinical studies

Etiology

Milara J, Juan G, Peiró T, Serrano A, Cortijo J
Respiration 2012;83(2):147-58. Epub 2011 Nov 17 doi: 10.1159/000332834. PMID: 22094549

Clinical prediction guides

Milara J, Juan G, Peiró T, Serrano A, Cortijo J
Respiration 2012;83(2):147-58. Epub 2011 Nov 17 doi: 10.1159/000332834. PMID: 22094549

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