DIP
MCID: INT304
MIFTS: 37

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 58
Desquamative Interstitial Pneumonia 60 74
Pneumonitis, Desquamative Interstitial, Familial 58
Pneumonia, Desquamative Interstitial, Familial 58
Interstitial Lung Disease, Desquamative 58
Ild, Desquamative 58
Dip 58

Characteristics:

OMIM:

58
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:

33
interstitial pneumonitis, desquamative, familial:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

OMIM 58 263000
ICD10 via Orphanet 35 J84.1
UMLS via Orphanet 75 C0238378
Orphanet 60 ORPHA98852
MedGen 43 C0238378
UMLS 74 C0238378

Summaries for Interstitial Pneumonitis, Desquamative, Familial

OMIM : 58 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 desquamative interstitial pneumonia and surfactant metabolism dysfunction, pulmonary, 1, and has symptoms including respiratory distress, cyanosis and coughing. An important gene associated with Interstitial Pneumonitis, Desquamative, Familial is DIP (Interstitial Pneumonitis, Desquamative, Familial). The drugs Lidocaine and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and heart, and related phenotypes are failure to thrive and abnormality of metabolism/homeostasis

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 131)
# Related Disease Score Top Affiliating Genes
1 desquamative interstitial pneumonia 11.5
2 surfactant metabolism dysfunction, pulmonary, 1 11.1
3 bacteriuria 10.4
4 hypertension, essential 10.4
5 diabetes mellitus 10.3
6 pulmonary fibrosis 10.3
7 gestational diabetes 10.3
8 mastitis 10.2
9 hepatitis c virus 10.2
10 hepatitis 10.2
11 pulmonary alveolar proteinosis 10.2
12 hepatitis c 10.2
13 histiocytosis 10.2
14 extrinsic allergic alveolitis 10.2
15 coronary heart disease 1 10.1
16 heart disease 10.1
17 rheumatoid arthritis 10.1
18 pneumonia 10.1
19 neuropathy 10.1
20 apnea, obstructive sleep 10.1
21 parkinson disease, late-onset 10.1
22 sleep apnea 10.1
23 bronchiolitis 10.0
24 interstitial lung disease 10.0
25 lung disease 10.0
26 pulmonary fibrosis, idiopathic 10.0
27 scleroderma, familial progressive 10.0
28 sudden infant death syndrome 10.0
29 focal segmental glomerulosclerosis 1 10.0
30 langerhans cell histiocytosis 10.0
31 focal segmental glomerulosclerosis 10.0
32 immunoglobulin alpha deficiency 10.0
33 pneumoconiosis 10.0
34 pneumothorax 10.0
35 larynx cancer 10.0
36 idiopathic interstitial pneumonia 10.0
37 nonspecific interstitial pneumonia 10.0
38 diffuse pulmonary fibrosis 10.0
39 rubella 10.0
40 pulmonary embolism 10.0
41 hypereosinophilic syndrome 10.0
42 congenital rubella 10.0
43 labrador lung 10.0
44 arthritis 10.0
45 autonomic neuropathy 10.0
46 low tension glaucoma 10.0
47 personality disorder 10.0
48 kidney disease 10.0
49 spondyloenchondrodysplasia 10.0
50 creutzfeldt-jakob disease 9.9

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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 recurrent upper respiratory tract infections 33 HP:0002788
4 respiratory distress 33 HP:0002098
5 respiratory failure 33 HP:0002878
6 cough 33 HP:0012735
7 tachypnea 33 HP:0002789
8 cyanosis 33 HP:0000961
9 interstitial pneumonitis 33 HP:0006515
10 tubulointerstitial fibrosis 33 HP:0005576
11 cor pulmonale 33 HP:0001648
12 desquamative interstitial pneumonitis 33 HP:0005942

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Cardiovascular Heart:
cor pulmonale

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

Laboratory Abnormalities:
hypoxia

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
Lidocaine Approved, Vet_approved 137-58-6 3676
2
Midazolam Approved, Illicit 59467-70-8 4192
3 Antibodies
4 Immunoglobulins
5 Calamus
6 Anesthetics
7 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bardoxolone Methyl Evaluation in Patients With Pulmonary Hypertension (PH) - LARIAT Completed NCT02036970 Phase 2 Bardoxolone methyl;Placebo
2 The NIH Exercise Therapy for Advanced Lung Disease Trials: Response and Adaptation to Aerobic Exercise in Patients With Interstitial Lung Disease Recruiting NCT02019641 Phase 2
3 Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank Recruiting NCT02951416
4 Clinical Characteristics of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study Not yet recruiting NCT03870828

Search NIH Clinical Center for 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:

42
Lung, Kidney, Heart, Eye, Cortex

Publications for Interstitial Pneumonitis, Desquamative, Familial

Articles related to Interstitial Pneumonitis, Desquamative, Familial:

(show top 50) (show all 132)
# Title Authors Year
1
Anti-Ku antibody-positive desquamative interstitial pneumonia. ( 30603599 )
2019
2
Desquamative interstitial pneumonia: Risk factors, laboratory and bronchoalveolar lavage findings, radiological and histopathological examination, clinical features, treatment and prognosis. ( 30651839 )
2019
3
Desquamative interstitial pneumonia with clinical, radiological and histologic correlation. ( 30815049 )
2019
4
A Review of Smoking-Related Interstitial Fibrosis, Respiratory Bronchiolitis, and Desquamative Interstitial Pneumonia: Overlapping Histology and Confusing Terminology. ( 30281362 )
2018
5
Pulmonary Adenocarcinoma, Intra-alveolar Variant: A Rare Entity Mimicking Desquamative Interstitial Pneumonia. ( 28862049 )
2018
6
Desquamative interstitial pneumonia complicated by diffuse alveolar haemorrhage. ( 29321935 )
2018
7
Pulmonary Adenocarcinoma Mimicking Desquamative Interstitial Pneumonia: Report of 2 Cases With Genetic Analysis. ( 29720004 )
2018
8
Letter to the Editor: Desquamative interstitial pneumonia revisited half a century later. ( 29940655 )
2018
9
Smoking Relapse Causing an Acute Exacerbation of Desquamative Interstitial Pneumonia with Pleural Effusions and Mediastinal Adenopathies. ( 30046503 )
2018
10
Successful lung transplantation in an HIV seropositive patient with desquamative interstitial pneumonia: a case report. ( 30326889 )
2018
11
A case of mixed dust pneumoconiosis with desquamative interstitial pneumonia-like reaction in an aluminum welder. ( 28239542 )
2017
12
Desquamative Interstitial Pneumonia Complicated with IgG4-related Lung Disease. ( 28626183 )
2017
13
[Desquamative interstitial pneumonia: report of one case and review of literature]. ( 29050131 )
2017
14
Transbronchial cryobiopsy in the diagnosis of desquamative interstitial pneumonia. ( 27134124 )
2016
15
Near fatal desquamative interstitial pneumonia with bilateral recurrent tension pneumothorax. ( 26278697 )
2015
16
Desquamative interstitial pneumonia in a child related to cigarette smoke. ( 23775787 )
2014
17
Lung tumors masquerading as desquamative interstitial pneumonia (DIP): report of 7 cases and review of the literature. ( 24805863 )
2014
18
Idiopathic desquamative interstitial pneumonia in a child: a case report. ( 24954625 )
2014
19
Surgically proven desquamative interstitial pneumonia induced by waterproofing spray. ( 25224197 )
2014
20
Desquamative interstitial pneumonia: a case report. ( 25518542 )
2014
21
Desquamative interstitial pneumonia: an analytic review with an emphasis on aetiology. ( 23728865 )
2013
22
Desquamative interstitial pneumonia may progress to lung fibrosis as characterized radiologically. ( 22805187 )
2012
23
Desquamative interstitial pneumonia. ( 20854463 )
2011
24
Elevated serum levels of lysozyme in desquamative interstitial pneumonia. ( 20453406 )
2010
25
Desquamative interstitial pneumonia as the initial manifestation of systemic sclerosis. ( 20808169 )
2010
26
Desquamative interstitial pneumonia (DIP) in a patient with rheumatoid arthritis: is DIP associated with autoimmune disorders? ( 19443979 )
2009
27
[A case of desquamative interstitial pneumonia associated with hepatitis C virus infection]. ( 19764512 )
2009
28
Eosinophilia in bronchoalveolar lavage fluid and architectural destruction are features of desquamative interstitial pneumonia. ( 18184268 )
2008
29
Desquamative interstitial pneumonia with a remarkable increase in the number of BAL eosinophils. ( 18421198 )
2008
30
Beneficial response to macrolide antibiotic in a patient with desquamative interstitial pneumonia refractory to corticosteroid therapy. ( 18628222 )
2008
31
Sirolimus-associated desquamative interstitial pneumonia. ( 17164540 )
2007
32
Intractable desquamative interstitial pneumonia in a tattooed man. ( 17043377 )
2006
33
Desquamative interstitial pneumonia and respiratory bronchiolitis-associated interstitial lung disease. ( 15653981 )
2005
34
Desquamative interstitial pneumonia associated with concurrent cytomegalovirus and Aspergillus pneumonia in a renal transplant recipient. ( 15735246 )
2005
35
Desquamative interstitial pneumonia, respiratory bronchiolitis and their relationship to smoking. ( 15330806 )
2004
36
Respiratory bronchiolitis associated with interstitial lung disease and desquamative interstitial pneumonia. ( 15564017 )
2004
37
Desquamative interstitial pneumonia masquerading as acute life-threatening pulmonary embolism. ( 15149053 )
2004
38
Desquamative interstitial pneumonia and hepatitis C virus infection: a rare association. ( 15455981 )
2004
39
The overlap between respiratory bronchiolitis and desquamative interstitial pneumonia in pulmonary Langerhans cell histiocytosis: high-resolution CT, histologic, and functional correlations. ( 14555547 )
2003
40
A case of completely resolved pneumatocoeles in desquamative interstitial pneumonia. ( 14528887 )
2003
41
Desquamative interstitial pneumonia and respiratory bronchiolitis-associated interstitial lung disease. ( 16088687 )
2001
42
Idiopathic nonspecific interstitial pneumonia: prognostic significance of cellular and fibrosing patterns: survival comparison with usual interstitial pneumonia and desquamative interstitial pneumonia. ( 10632484 )
2000
43
Respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, and desquamative interstitial pneumonia: different entities or part of the spectrum of the same disease process? ( 10584810 )
1999
44
Increasing dose of methylprednisolone pulse therapy treats desquamative interstitial pneumonia in a child. ( 10624777 )
1999
45
Recurrence of desquamative interstitial pneumonia after lung transplantation. ( 9563761 )
1998
46
Fatal desquamative interstitial pneumonia associated with proven CMV infection in an 8-month-old boy. ( 9635938 )
1998
47
Differentiation of desquamative interstitial pneumonia (DIP) from pulmonary adenocarcinoma by immunocytochemistry. ( 9762545 )
1998
48
Serial computed tomographic evaluation in desquamative interstitial pneumonia. ( 9196515 )
1997
49
Desquamative interstitial pneumonia: an idiopathic interstitial pneumonia with a possibility of spontaneous regression. ( 9372323 )
1997
50
Spontaneous remission of desquamative interstitial pneumonia. ( 9372337 )
1997

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

GO Terms for Interstitial Pneumonitis, Desquamative, Familial

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