Desquamative interstitial pneumonia

General Information (adopted from Orphanet):

Synonyms, Signs: PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL
INTERSTITIAL LUNG DISEASE, DESQUAMATIVE
ILD, DESQUAMATIVE
PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL
DIP
DIP
Number of Symptoms 44
OrphanetNr: 98852
OMIM Id: 263000
ICD-10: J84.1
UMLs: C0238378
MeSH:
MedDRA:
Snomed: 8549006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Idiopathic interstitial pneumonia
 -Rare respiratory disease

Comment:

Desquamative interstitial pneumonia (DIP) is characterized by the accumulation of numerous pigmented macrophages within most of the distal airspace of the lung which links the disease to respiratory bronchiolitis-interstitial lung disease (RB-ILD) (PMID:23728865, 11790668). It is highly associated with smoking or exposure to certain inhaled toxins (PMID:23728865). Familial forms with onset in infancy due to mutations in genes involved in surfactant metabolism (e.g. SFTPB, SFTPC) are also reported (PMID:24954625).

Symptom Information: Sort by abundance 

1
(HPO:0002321) Vertigo 24524107 IBIS 58 / 7739
2
(HPO:0012378) Fatigue 23728865 IBIS 50 / 7739
3
(HPO:0001217) Clubbing Frequent [IBIS] 40% (n=103) 23728865 IBIS 39 / 7739
4
(HPO:0100749) Chest pain Occasional [IBIS] 23% (n=103) 23728865 IBIS 92 / 7739
5
(HPO:0001508) Failure to thrive 6726519 IBIS 454 / 7739
6
(HPO:0001824) Weight loss Occasional [IBIS] 20% (n=103) 23728865 IBIS 42 / 7739
7
(HPO:0000961) Cyanosis Frequent [IBIS] 28% (n=103) 23728865 IBIS 60 / 7739
8
(HPO:0001648) Cor pulmonale Occasional [IBIS] 5902256 IBIS 16 / 7739
9
(HPO:0003237) Increased IgG level Frequent [IBIS] 59% (n=20) 18184268 IBIS 5 / 7739
10
(HPO:0003212) Increased IgE level Frequent [IBIS] 45% (n=20) 18184268 IBIS 13 / 7739
11
(HPO:0001880) Eosinophilia Occasional [IBIS] 10% (n=20) 18184268 IBIS 35 / 7739
12
(HPO:0003565) Elevated erythrocyte sedimentation rate Frequent [IBIS] 75% (n=20) 18184268 IBIS 31 / 7739
13
(HPO:0001945) Fever 19637809 IBIS 218 / 7739
14
(HPO:0100750) Atelectasis 23775787 IBIS 17 / 7739
15
(HPO:0012415) Abnormal blood gas level 23728865 IBIS 9 / 7739
16
(HPO:0006530) Interstitial pulmonary disease 23728865; 24424167 IBIS 26 / 7739
17
(HPO:0002098) Respiratory distress 9876799 IBIS 75 / 7739
18
(HPO:0002792) Reduced vital capacity Frequent [IBIS] 40% (n=20) 18184268 IBIS 17 / 7739
19
(HPO:0002109) Abnormality of the bronchi 23728865 IBIS 6 / 7739
20
(HPO:0002110) Bronchiectasis Occasional [IBIS] 12% (n=17) 18184268 IBIS 73 / 7739
21
(HPO:0005942) Desquamative interstitial pneumonitis 23728865 IBIS 3 / 7739
22
(HPO:0002111) Restrictive deficit on pulmonary function testing Frequent [IBIS] 17043377; 15653981 IBIS 25 / 7739
23
(HPO:0002093) Respiratory insufficiency 17043377 IBIS 410 / 7739
24
(HPO:0002105) Hemoptysis Occasional [IBIS] 7% (n=103) 23728865 IBIS 30 / 7739
25
(HPO:0002795) Functional respiratory abnormality Frequent [IBIS] 60% (n=103) 23728865 IBIS 13 / 7739
26
(HPO:0002113) Pulmonary infiltrates Frequent [IBIS] 23728865; 6726519; 15653981 IBIS 36 / 7739
27
(HPO:0012418) Hypoxemia Frequent [IBIS] 85% (n=20) 18184268 IBIS 18 / 7739
28
(HPO:0002789) Tachypnea 3130863 IBIS 48 / 7739
29
(HPO:0002206) Pulmonary fibrosis 16865368 IBIS 51 / 7739
30
(HPO:0002207) Diffuse reticular or finely nodular infiltrations 24844883 IBIS 11 / 7739
31
(HPO:0002094) Dyspnea Frequent [IBIS] 89% (n=103) 23728865 IBIS 132 / 7739
32
(OMIM) Reduced diffusion capacity 23728865 IBIS 8 / 7739
33
(MedDRA:10065906) Carbon monoxide diffusing capacity decreased Frequent [IBIS] 86% (n=7) 884976 IBIS 8 / 7739
34
(OMIM) Obstructive respiratory impairment Occasional [IBIS] 15653981 IBIS 3 / 7739
35
(OMIM) Absence of hyaline membranes 3130863 IBIS 1 / 7739
36
(OMIM) Radiograph shows ground glass appearance Frequent [IBIS] 70% (n=20) 18184268, 15459629 IBIS 7 / 7739
37
(OMIM) Diffuse filling of alveoli with pigmented macrophages Very frequent [IBIS] 23728865; 24524107 IBIS 2 / 7739
38
(MedDRA:10067182) Bronchial wall thickening 23728865; 24524107 IBIS 5 / 7739
39
(OMIM) Cough, nonproductive 23728865 IBIS 5 / 7739
40
(MedDRA:10062049) Lymphocytic infiltration 23728865 IBIS 9 / 7739
41
(MedDRA:10025080) Lung consolidation Occasional [IBIS] 20% (n=20) 18184268 IBIS 5 / 7739
42
(OMIM) Hyperinflation 23775787 IBIS 1 / 7739
43
(OMIM) Lung biopsy shows interstitial lymphoplasmocytic inflammation 6726519 IBIS 1 / 7739
44
(HPO:0012735) Cough Frequent [IBIS] 70% (n=103) 23728865 IBIS 24 / 7739

Associated genes:

SFTPB, SFTPC

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006).

Desquamative ...

Clinical Description OMIM Tal et al. (1984) reported 3 infant sibs, 2 males and 1 female, who developed fatal respiratory failure within the first month of life. The parents were nonconsanguineous Jewish individuals of Moroccan origin. Clinical features included cough, difficulty ...