Respiratory bronchiolitis - interstitial lung disease

General Information (adopted from Orphanet):

Synonyms, Signs: RB-ILD
Number of Symptoms 33
OrphanetNr: 79127
OMIM Id:
ICD-10: J84.8
UMLs: C1276236
C1735355
MeSH:
MedDRA: 10066393
Snomed: 129451001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Idiopathic interstitial pneumonia
 -Rare respiratory disease

Comment:

Respiratory bronchiolitis-associated interstitial lung disease (RB-ILD) is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles and is therefore linked to desquamative interstitial pneumonia (DIP). It occurs almost exclusively in current or former heavy adult smokers, usually between 30 and 70 years old (PMID:26347438). Patients with RB-ILD usually have mild symptoms and a favorable prognosis (PMID:26138798). There is considerable overlap between RB-ILD and DIP, but both diseases can usually be distinguished radiologically using HRCT (PMID:25011486).

Symptom Information: Sort by abundance 

1
 (HPO:0001217) Clubbing Occasional [IBIS] 26347438; 25011486 IBIS 39 / 7739
2
 (HPO:0001508) Failure to thrive 26347438 IBIS 454 / 7739
3
 (HPO:0002097) Emphysema Frequent [IBIS] 26138798 IBIS 40 / 7739
4
 (HPO:0002109) Abnormality of the bronchi Frequent [IBIS] 11790668 IBIS 6 / 7739
5
 (HPO:0002103) Abnormality of the pleura 12692997 IBIS 58 / 7739
6
 (HPO:0002875) Exertional dyspnea 26138798 IBIS 29 / 7739
7
 (HPO:0002094) Dyspnea Frequent [IBIS] 11790668 IBIS 132 / 7739
8
 (HPO:0002113) Pulmonary infiltrates Frequent [IBIS] 26347438; 15653981 IBIS 36 / 7739
9
 (HPO:0002093) Respiratory insufficiency 15653981 IBIS 410 / 7739
10
 (HPO:0011950) Bronchiolitis 26138798 IBIS 8 / 7739
11
 (HPO:0012415) Abnormal blood gas level 11790668 IBIS 9 / 7739
12
 (HPO:0006515) Interstitial pneumonitis 26138798 IBIS 13 / 7739
13
 (HPO:0006530) Interstitial pulmonary disease 24844883; 24424167; 11790668 IBIS 26 / 7739
14
 (HPO:0012418) Hypoxemia 25011486 IBIS 18 / 7739
15
 (HPO:0002795) Functional respiratory abnormality 26138798 IBIS 13 / 7739
16
 (HPO:0005952) Decreased pulmonary function 26347438 IBIS 8 / 7739
17
 (HPO:0006516) Hypersensitivity pneumonitis 26138798 IBIS 2 / 7739
18
 (HPO:0002207) Diffuse reticular or finely nodular infiltrations 24844883 IBIS 11 / 7739
19
 (HPO:0002206) Pulmonary fibrosis 26347438 IBIS 51 / 7739
20
 (HPO:0002781) Upper airway obstruction 26138798 IBIS 7 / 7739
21
 (OMIM) Inspiratory crackles (50%) 26138798 IBIS 4 / 7739
22
 (MedDRA:10071257) Pleural cyst 12692997 IBIS 1 / 7739
23
 (MedDRA:10065906) Carbon monoxide diffusing capacity decreased 11790668 IBIS 8 / 7739
24
 (MedDRA:10067182) Bronchial wall thickening Frequent [IBIS] 24844883 IBIS 5 / 7739
25
 (OMIM) Radiograph shows ground glass appearance Frequent [IBIS] 24844883 IBIS 7 / 7739
26
 (OMIM) Obstructive respiratory impairment Frequent [IBIS] 25011486 IBIS 3 / 7739
27
 (MedDRA:10062049) Lymphocytic infiltration 26347438 IBIS 9 / 7739
28
 (MedDRA:10059487) Lung hyperinflation 25011486 IBIS 2 / 7739
29
 (OMIM) Centrilobular ground glass opacities seen on CT 15459629 IBIS 3 / 7739
30
 (HPO:0012735) Cough Frequent [IBIS] 11790668 IBIS 24 / 7739
31
 (OMIM) Honeycomb fibrosis, varying in age and location 12692997 IBIS 6 / 7739
32
 (OMIM) Diffuse filling of alveoli with pigmented macrophages Very frequent [IBIS] 11790668 IBIS 2 / 7739
33
 (MedDRA:10047924) Wheezing 25011486 IBIS 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: