DIP
MCID: INT304
MIFTS: 44

Interstitial Pneumonitis, Desquamative, Familial (DIP)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Interstitial Pneumonitis, Desquamative, Familial

MalaCards integrated aliases for Interstitial Pneumonitis, Desquamative, Familial:

Name: Interstitial Pneumonitis, Desquamative, Familial 56 43
Desquamative Interstitial Pneumonia 12 58 54 15 71
Respiratory Bronchiolitis-Associated Interstitial Lung Disease 12
Pneumonitis, Desquamative Interstitial, Familial 56
Pneumonia, Desquamative Interstitial, Familial 56
Familial Desquamative Interstitial Pneumonitis 12
Interstitial Lung Disease, Desquamative 56
Ild, Desquamative 56
Rbild 12
Dip 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy (first hours to weeks of life)
death usually in infancy or early childhood
dip is a pathologic diagnosis that may represent other disease entities


HPO:

31
interstitial pneumonitis, desquamative, familial:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0050158
OMIM 56 263000
ICD9CM 34 516.34 516.37
MeSH 43 C562470
NCIt 49 C35288
SNOMED-CT 67 8549006
ICD10 via Orphanet 33 J84.1
UMLS via Orphanet 72 C0238378
Orphanet 58 ORPHA98852
MedGen 41 C0238378
UMLS 71 C0238378

Summaries for Interstitial Pneumonitis, Desquamative, Familial

OMIM : 56 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 interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006). See also usual interstitial pneumonitis (UIP; see 178500), which is associated with pulmonary fibrosis. Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994). Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001). With the advent of molecular genetic analysis, some cases of familial early-onset respiratory insufficiency associated with a pathologic diagnosis of DIP have been shown to result from congenital dysfunction of surfactant metabolism (see, e.g., SMDP1, 265120) due to mutations in genes involved in surfactant metabolism (Nogee et al., 2001; Whitsett and Weaver, 2002). (263000)

MalaCards based summary : Interstitial Pneumonitis, Desquamative, Familial, also known as desquamative interstitial pneumonia, is related to surfactant metabolism dysfunction, pulmonary, 1 and diffuse pulmonary fibrosis, and has symptoms including respiratory distress, cyanosis and coughing. An important gene associated with Interstitial Pneumonitis, Desquamative, Familial is DIP (Interstitial Pneumonitis, Desquamative, Familial), and among its related pathways/superpathways are Diseases of metabolism and Lung fibrosis. The drugs Midazolam and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, lymph node and trachea, and related phenotypes are failure to thrive and abnormality of metabolism/homeostasis

Disease Ontology : 12 An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.

Related Diseases for Interstitial Pneumonitis, Desquamative, Familial

Diseases related to Interstitial Pneumonitis, Desquamative, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 surfactant metabolism dysfunction, pulmonary, 1 32.4 SFTPB ABCA3
2 diffuse pulmonary fibrosis 30.9 SFTPC ABCA3
3 idiopathic interstitial pneumonia 30.6 TERC SFTPD SFTPC SFTPB SFTPA2 MUC1
4 respiratory failure 30.5 SFTPD SFTPC SFTPB ABCA3
5 interstitial emphysema 30.4 SFTPC SFTPB ABCA3
6 pulmonary alveolar proteinosis 30.0 SFTPD SFTPC SFTPB MUC1
7 nonspecific interstitial pneumonia 29.7 SFTPD SFTPC MUC1 ELMOD2 ABCA3
8 cryptogenic organizing pneumonia 29.7 TNC SFTPD SFTPC MUC1
9 eosinophilic pneumonia 29.5 SFTPD MUC1
10 pneumonia 29.5 SFTPD SFTPC SFTPB SFTPA2 MUC1
11 pulmonary fibrosis 29.4 TERC SFTPD SFTPC SFTPA2 ELMOD2 ABCA3
12 lung disease 29.1 SFTPD SFTPC SFTPB SFTPA2 MUC1 ABCA3
13 interstitial lung disease 28.9 SFTPD SFTPC SFTPB MUC1 ABCA3
14 pulmonary fibrosis, idiopathic 27.5 TERC SPPL2C SFTPD SFTPC SFTPB SFTPA2
15 mastitis 10.6
16 bacteriuria 10.6
17 hypertension, essential 10.5
18 gestational diabetes 10.4
19 acute cystitis 10.4
20 chronic congestive splenomegaly 10.4 SFTPC ABCA3
21 ventilation pneumonitis 10.3 SFTPB ABCA3
22 histiocytosis 10.3
23 sleep apnea 10.3
24 tracheal agenesis 10.3 SFTPD SFTPB
25 langerhans cell histiocytosis 10.3
26 autonomic neuropathy 10.2
27 neuropathy 10.2
28 oral cancer 10.2
29 diaphragm disease 10.2 SFTPC SFTPB
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
31 pre-eclampsia 10.2
32 lipid metabolism disorder 10.2
33 kidney disease 10.2
34 chronic kidney disease 10.2
35 coronary heart disease 1 10.2
36 cerebrovascular disease 10.2
37 pleuroparenchymal fibroelastosis 10.2 SFTPD MUC1
38 fibrosis of extraocular muscles, congenital, 1 10.2
39 hepatitis c virus 10.2
40 pneumothorax 10.2
41 hepatitis c 10.2
42 bronchiectasis 10.2
43 raynaud phenomenon 10.2
44 localized pulmonary fibrosis 10.2 SFTPD MUC1
45 intraocular pressure quantitative trait locus 10.2
46 sleep disorder 10.2
47 surfactant dysfunction 10.2 SFTPC SFTPB ABCA3
48 pulmonary disease, chronic obstructive 10.2
49 extrinsic allergic alveolitis 10.2
50 respiratory distress syndrome in premature infants 10.1 SFTPC SFTPB ABCA3

Graphical network of the top 20 diseases related to Interstitial Pneumonitis, Desquamative, Familial:



Diseases related to Interstitial Pneumonitis, Desquamative, Familial

Symptoms & Phenotypes for Interstitial Pneumonitis, Desquamative, Familial

Human phenotypes related to Interstitial Pneumonitis, Desquamative, Familial:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 recurrent upper respiratory tract infections 31 HP:0002788
4 respiratory distress 31 HP:0002098
5 cough 31 HP:0012735
6 respiratory failure 31 HP:0002878
7 tachypnea 31 HP:0002789
8 cyanosis 31 HP:0000961
9 interstitial pneumonitis 31 HP:0006515
10 tubulointerstitial fibrosis 31 HP:0005576
11 cor pulmonale 31 HP:0001648
12 desquamative interstitial pneumonitis 31 HP:0005942

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Laboratory Abnormalities:
hypoxia

Respiratory Lung:
radiograph shows bilateral diffuse interstitial infiltrates
radiograph shows ground glass appearance
hyperinflation
lung biopsy shows interstitial lymphoplasmocytic inflammation
thickened alveolar septa
more
Respiratory:
respiratory distress
cough
tachypnea

Cardiovascular Heart:
cor pulmonale

Growth Weight:
poor weight gain

Clinical features from OMIM:

263000

UMLS symptoms related to Interstitial Pneumonitis, Desquamative, Familial:


respiratory distress, cyanosis, coughing

Drugs & Therapeutics for Interstitial Pneumonitis, Desquamative, Familial

Drugs for Interstitial Pneumonitis, Desquamative, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit 59467-70-8 4192
2
Lidocaine Approved, Vet_approved 137-58-6 3676
3 Antibodies
4 Immunoglobulins
5 Anesthetics
6 Pharmaceutical Solutions
7 Calamus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Dose-Ranging Study of the Efficacy and Safety of Bardoxolone Methyl in Patients With Pulmonary Hypertension Completed NCT02036970 Phase 2 Bardoxolone methyl;Placebo
2 Sequential Changes of Serum KL-6 Predict Progression in Interstitial Lung Disease Unknown status NCT02960672
3 The European IPF Registry - an Internet-based, Pan-European Registry Linked to the European IPF Biobank (eurIPFbank) Recruiting NCT02951416
4 Incidence, Clinical Characteristics and Evaluation of Prognostic and Diagnostic Markers of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study Not yet recruiting NCT03870828

Search NIH Clinical Center for Interstitial Pneumonitis, Desquamative, Familial

Cochrane evidence based reviews: interstitial pneumonitis, desquamative, familial

Genetic Tests for Interstitial Pneumonitis, Desquamative, Familial

Anatomical Context for Interstitial Pneumonitis, Desquamative, Familial

MalaCards organs/tissues related to Interstitial Pneumonitis, Desquamative, Familial:

40
Lung, Lymph Node, Trachea

Publications for Interstitial Pneumonitis, Desquamative, Familial

Articles related to Interstitial Pneumonitis, Desquamative, Familial:

(show top 50) (show all 372)
# Title Authors PMID Year
1
Histologic spectrum of idiopathic interstitial pneumonias. 56 61
16738196 2006
2
Desquamative interstitial pneumonia in sibs. 61 56
8585561 1995
3
Fatal desquamative interstitial pneumonia in three infants siblings. 56 61
6726519 1984
4
Natural history and treated course of usual and desquamative interstitial pneumonia. 61 56
634315 1978
5
DESQUAMATIVE INTERSTITIAL PNEUMONIA. 61 56
14338290 1965
6
Hydrophobic surfactant proteins in lung function and disease. 56
12501227 2002
7
A mutation in the surfactant protein C gene associated with familial interstitial lung disease. 56
11207353 2001
8
Familial interstitial lung disease in children: response to chloroquine treatment in one sibling with desquamative interstitial pneumonitis. 56
9035199 1997
9
Fibrosing alveolitis and desquamative interstitial pneumonitis. 56
8090606 1994
10
Congenital malformations and genetic disorders of the respiratory tract (larynx, trachea, bronchi, and lungs). 56
380420 1979
11
Tenascin immunoreactivity as a prognostic marker in usual interstitial pneumonia. 54 61
8756830 1996
12
Immunolocalization of SPARC, tenascin, and thrombospondin in pulmonary fibrosis. 61 54
7495300 1995
13
Korean Guidelines for Diagnosis and Management of Interstitial Lung Diseases: Part 1. Introduction. 61
31172699 2019
14
Probe-based confocal laser endomicroscopy in diagnosis of desquamative interstitial pneumonia in nonsmoker. 61
31505921 2019
15
A Stepwise Diagnostic Approach to Cystic Lung Diseases for Radiologists. 61
31464115 2019
16
Increased Pulmonary GM-CSF Causes Alveolar Macrophage Accumulation: Mechanistic Implications for Desquamative Interstitial Pneumonitis. 61
31310562 2019
17
Desquamative interstitial pneumonia with clinical, radiological and histologic correlation. 61
30815049 2019
18
Anti-Ku antibody-positive desquamative interstitial pneumonia. 61
30603599 2019
19
Desquamative interstitial pneumonia: Risk factors, laboratory and bronchoalveolar lavage findings, radiological and histopathological examination, clinical features, treatment and prognosis. 61
30651839 2019
20
A Review of Smoking-Related Interstitial Fibrosis, Respiratory Bronchiolitis, and Desquamative Interstitial Pneumonia: Overlapping Histology and Confusing Terminology. 61
30281362 2018
21
Successful lung transplantation in an HIV seropositive patient with desquamative interstitial pneumonia: a case report. 61
30326889 2018
22
Pulmonary Adenocarcinoma Mimicking Desquamative Interstitial Pneumonia: Report of 2 Cases With Genetic Analysis. 61
29720004 2018
23
Idiopathic interstitial pneumonias: review of the latest American Thoracic Society/European Respiratory Society classification. 61
30369660 2018
24
Current Concepts in Pathogenesis, Diagnosis, and Management of Smoking-Related Interstitial Lung Diseases. 61
29222007 2018
25
Pulmonary Adenocarcinoma, Intra-alveolar Variant: A Rare Entity Mimicking Desquamative Interstitial Pneumonia. 61
28862049 2018
26
Unfavourable outcome of glucocorticoid treatment in suspected idiopathic pulmonary fibrosis. 61
29207437 2018
27
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. 61
29580292 2018
28
Smoking-related lung abnormalities on computed tomography images: comparison with pathological findings. 61
29247372 2018
29
Desquamative interstitial pneumonia complicated by diffuse alveolar haemorrhage. 61
29321935 2018
30
Letter to the Editor: Desquamative interstitial pneumonia revisited half a century later. 61
29940655 2018
31
Smoking Relapse Causing an Acute Exacerbation of Desquamative Interstitial Pneumonia with Pleural Effusions and Mediastinal Adenopathies. 61
30046503 2018
32
[Desquamative interstitial pneumonia: report of one case and review of literature]. 61
29050131 2017
33
Transbronchial Cryobiopsy in Diffuse Parenchymal Lung Disease: Retrospective Analysis of 74 Cases. 61
27660154 2017
34
A case of mixed dust pneumoconiosis with desquamative interstitial pneumonia-like reaction in an aluminum welder. 61
28239542 2017
35
Desquamative Interstitial Pneumonia Complicated with IgG4-related Lung Disease. 61
28626183 2017
36
Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation. 61
29250453 2017
37
Respiratory bronchiolitis-associated interstitial lung disease - an unexpected form of idiopathic interstitial pneumonia in a young male. 61
28523329 2017
38
Overlaps and uncertainties of smoking-related idiopathic interstitial pneumonias. 61
29138550 2017
39
Sirolimus-Induced Diffuse Alveolar Hemorrhage: A Case Report. 61
26849007 2016
40
Clinical-Radiologic-Pathologic Correlation of Smoking-Related Diffuse Parenchymal Lung Disease. 61
27719975 2016
41
Hard metal lung disease: a case series. 61
28117477 2016
42
Cystic Lung Diseases: Algorithmic Approach. 61
27180915 2016
43
Transbronchial cryobiopsy in the diagnosis of desquamative interstitial pneumonia. 61
27134124 2016
44
Mutually exclusive extracellular signal-regulated kinase pathway mutations are present in different stages of multi-focal pulmonary Langerhans cell histiocytosis supporting clonal nature of the disease. 61
26915300 2016
45
[Interstitial lung diseases associated with smoking]. 61
27223588 2016
46
Smoking-related idiopathic interstitial pneumonia: A review. 61
26138798 2016
47
Pulmonary fibrosis and exposure to steel welding fume. 61
26152561 2015
48
American Thoracic Society-European Respiratory Society Classification of the Idiopathic Interstitial Pneumonias: Advances in Knowledge since 2002. 61
26452110 2015
49
Inflammatory Diseases of the Lung Induced by Conventional Cigarette Smoke: A Review. 61
26135024 2015
50
Smoking and interstitial lung diseases. 61
26324804 2015

Variations for Interstitial Pneumonitis, Desquamative, Familial

Expression for Interstitial Pneumonitis, Desquamative, Familial

Search GEO for disease gene expression data for Interstitial Pneumonitis, Desquamative, Familial.

Pathways for Interstitial Pneumonitis, Desquamative, Familial

Pathways related to Interstitial Pneumonitis, Desquamative, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 SFTPD SFTPC SFTPB SFTPA2
2 11.23 SFTPC SFTPA2 ELMOD2
3
Show member pathways
11.03 SFTPD SFTPA2
4 10.91 TNC MUC1
5
Show member pathways
10.65 SFTPD SFTPC SFTPB SFTPA2
6
Show member pathways
10.65 SFTPD SFTPC SFTPB SFTPA2 ABCA3

GO Terms for Interstitial Pneumonitis, Desquamative, Familial

Cellular components related to Interstitial Pneumonitis, Desquamative, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 TNC SFTPD SFTPC SFTPB SFTPA2 MUC1
2 endoplasmic reticulum membrane GO:0005789 9.77 SPPL2C SFTPD SFTPC SFTPB SFTPA2
3 multivesicular body GO:0005771 9.4 SFTPD SFTPB
4 multivesicular body lumen GO:0097486 9.32 SFTPC SFTPB
5 alveolar lamellar body GO:0097208 9.26 SFTPB ABCA3
6 lamellar body GO:0042599 9.13 SFTPC SFTPB SFTPA2
7 clathrin-coated endocytic vesicle GO:0045334 8.92 SFTPD SFTPC SFTPB SFTPA2

Biological processes related to Interstitial Pneumonitis, Desquamative, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 toll-like receptor signaling pathway GO:0002224 9.4 SFTPD SFTPA2
2 positive regulation of T cell mediated cytotoxicity GO:0001916 9.37 CD1E CD1A
3 developmental process GO:0032502 9.32 SFTPD SFTPA2
4 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.26 CD1E CD1A
5 respiratory gaseous exchange GO:0007585 9.26 SFTPD SFTPC SFTPB SFTPA2
6 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 9.16 CD1E CD1A
7 cellular protein metabolic process GO:0044267 9.1 TNC SFTPD SFTPC SFTPB SFTPA2 ABCA3

Molecular functions related to Interstitial Pneumonitis, Desquamative, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monosaccharide binding GO:0048029 9.26 SFTPD SFTPA2
2 lipopeptide binding GO:0071723 9.16 CD1E CD1A
3 exogenous lipid antigen binding GO:0030884 8.96 CD1E CD1A
4 endogenous lipid antigen binding GO:0030883 8.62 CD1E CD1A

Sources for Interstitial Pneumonitis, Desquamative, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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