MCID: INT304
MIFTS: 31

Interstitial Pneumonitis, Desquamative, Familial

Categories: Respiratory diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Interstitial Pneumonitis, Desquamative, Familial

MalaCards integrated aliases for Interstitial Pneumonitis, Desquamative, Familial:

Name: Interstitial Pneumonitis, Desquamative, Familial 57
Desquamative Interstitial Pneumonia 59 73
Pneumonitis, Desquamative Interstitial, Familial 57
Pneumonia, Desquamative Interstitial, Familial 57
Interstitial Lung Disease, Desquamative 57
Ild, Desquamative 57
Dip 57

Characteristics:

OMIM:

57
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:

32
interstitial pneumonitis, desquamative, familial:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


Summaries for Interstitial Pneumonitis, Desquamative, Familial

OMIM : 57 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 coughing, cyanosis and respiratory distress. An important gene associated with Interstitial Pneumonitis, Desquamative, Familial is DIP (Interstitial Pneumonitis, Desquamative, Familial). The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include lung, 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:

# Related Disease Score Top Affiliating Genes
1 desquamative interstitial pneumonia 11.3
2 surfactant metabolism dysfunction, pulmonary, 1 10.9
3 hypertension, essential 10.0

Symptoms & Phenotypes for Interstitial Pneumonitis, Desquamative, Familial

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Interstitial Pneumonitis, Desquamative, Familial:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 recurrent upper respiratory tract infections 32 HP:0002788
4 respiratory distress 32 HP:0002098
5 respiratory failure 32 HP:0002878
6 cough 32 HP:0012735
7 tachypnea 32 HP:0002789
8 cyanosis 32 HP:0000961
9 interstitial pneumonitis 32 HP:0006515
10 tubulointerstitial fibrosis 32 HP:0005576
11 cor pulmonale 32 HP:0001648
12 desquamative interstitial pneumonitis 32 HP:0005942

UMLS symptoms related to Interstitial Pneumonitis, Desquamative, Familial:


coughing, cyanosis, respiratory distress

Drugs & Therapeutics for Interstitial Pneumonitis, Desquamative, Familial

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins

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

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:

41
Lung

Publications for Interstitial Pneumonitis, Desquamative, Familial

Articles related to Interstitial Pneumonitis, Desquamative, Familial:

(show top 50) (show all 126)
# Title Authors Year
1
Pulmonary Adenocarcinoma Mimicking Desquamative Interstitial Pneumonia: Report of 2 Cases With Genetic Analysis. ( 29720004 )
2018
2
Letter to the Editor: Desquamative interstitial pneumonia revisited half a century later. ( 29940655 )
2018
3
Desquamative interstitial pneumonia complicated by diffuse alveolar haemorrhage. ( 29321935 )
2018
4
[Desquamative interstitial pneumonia: report of one case and review of literature]. ( 29050131 )
2017
5
Desquamative Interstitial Pneumonia Complicated with IgG4-related Lung Disease. ( 28626183 )
2017
6
Pulmonary Adenocarcinoma, Intra-alveolar Variant: A Rare Entity Mimicking Desquamative Interstitial Pneumonia. ( 28862049 )
2017
7
A case of mixed dust pneumoconiosis with desquamative interstitial pneumonia-like reaction in an aluminum welder. ( 28239542 )
2017
8
Transbronchial cryobiopsy in the diagnosis of desquamative interstitial pneumonia. ( 27134124 )
2016
9
Near fatal desquamative interstitial pneumonia with bilateral recurrent tension pneumothorax. ( 26278697 )
2015
10
Desquamative interstitial pneumonia: a case report. ( 25518542 )
2014
11
Idiopathic desquamative interstitial pneumonia in a child: a case report. ( 24954625 )
2014
12
Lung tumors masquerading as desquamative interstitial pneumonia (DIP): report of 7 cases and review of the literature. ( 24805863 )
2014
13
Surgically proven desquamative interstitial pneumonia induced by waterproofing spray. ( 25224197 )
2014
14
Desquamative interstitial pneumonia in a child related to cigarette smoke. ( 23775787 )
2013
15
Desquamative interstitial pneumonia: an analytic review with an emphasis on aetiology. ( 23728865 )
2013
16
Desquamative interstitial pneumonia may progress to lung fibrosis as characterized radiologically. ( 22805187 )
2012
17
Desquamative interstitial pneumonia. ( 20854463 )
2011
18
Elevated serum levels of lysozyme in desquamative interstitial pneumonia. ( 20453406 )
2010
19
Desquamative interstitial pneumonia as the initial manifestation of systemic sclerosis. ( 20808169 )
2010
20
[A case of desquamative interstitial pneumonia associated with hepatitis C virus infection]. ( 19764512 )
2009
21
Desquamative interstitial pneumonia (DIP) in a patient with rheumatoid arthritis: is DIP associated with autoimmune disorders? ( 19443979 )
2009
22
Beneficial response to macrolide antibiotic in a patient with desquamative interstitial pneumonia refractory to corticosteroid therapy. ( 18628222 )
2008
23
Eosinophilia in bronchoalveolar lavage fluid and architectural destruction are features of desquamative interstitial pneumonia. ( 18184268 )
2008
24
Desquamative interstitial pneumonia with a remarkable increase in the number of BAL eosinophils. ( 18421198 )
2008
25
Sirolimus-associated desquamative interstitial pneumonia. ( 17164540 )
2007
26
Intractable desquamative interstitial pneumonia in a tattooed man. ( 17043377 )
2006
27
Desquamative interstitial pneumonia and respiratory bronchiolitis-associated interstitial lung disease. ( 15653981 )
2005
28
Desquamative interstitial pneumonia associated with concurrent cytomegalovirus and Aspergillus pneumonia in a renal transplant recipient. ( 15735246 )
2005
29
Respiratory bronchiolitis associated with interstitial lung disease and desquamative interstitial pneumonia. ( 15564017 )
2004
30
Desquamative interstitial pneumonia and hepatitis C virus infection: a rare association. ( 15455981 )
2004
31
Desquamative interstitial pneumonia, respiratory bronchiolitis and their relationship to smoking. ( 15330806 )
2004
32
Desquamative interstitial pneumonia masquerading as acute life-threatening pulmonary embolism. ( 15149053 )
2004
33
The overlap between respiratory bronchiolitis and desquamative interstitial pneumonia in pulmonary Langerhans cell histiocytosis: high-resolution CT, histologic, and functional correlations. ( 14555547 )
2003
34
A case of completely resolved pneumatocoeles in desquamative interstitial pneumonia. ( 14528887 )
2003
35
Desquamative interstitial pneumonia and respiratory bronchiolitis-associated interstitial lung disease. ( 16088687 )
2001
36
Idiopathic nonspecific interstitial pneumonia: prognostic significance of cellular and fibrosing patterns: survival comparison with usual interstitial pneumonia and desquamative interstitial pneumonia. ( 10632484 )
2000
37
Increasing dose of methylprednisolone pulse therapy treats desquamative interstitial pneumonia in a child. ( 10624777 )
1999
38
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
39
Recurrence of desquamative interstitial pneumonia after lung transplantation. ( 9563761 )
1998
40
Fatal desquamative interstitial pneumonia associated with proven CMV infection in an 8-month-old boy. ( 9635938 )
1998
41
Differentiation of desquamative interstitial pneumonia (DIP) from pulmonary adenocarcinoma by immunocytochemistry. ( 9762545 )
1998
42
Desquamative interstitial pneumonia: an idiopathic interstitial pneumonia with a possibility of spontaneous regression. ( 9372323 )
1997
43
Recurrence of desquamative interstitial pneumonia after lung transplantation. ( 9412587 )
1997
44
Serial computed tomographic evaluation in desquamative interstitial pneumonia. ( 9196515 )
1997
45
Spontaneous remission of desquamative interstitial pneumonia. ( 9372337 )
1997
46
Disease progression in usual interstitial pneumonia compared with desquamative interstitial pneumonia. Assessment with serial CT. ( 8697837 )
1996
47
Desquamative interstitial pneumonia in sibs. ( 8585561 )
1995
48
Desquamative interstitial pneumonia: a case presentation. ( 8121260 )
1993
49
Desquamative interstitial pneumonia. ( 8300466 )
1993
50
Desquamative interstitial pneumonia: thin-section CT findings in 22 patients. ( 8497631 )
1993

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

Sources for Interstitial Pneumonitis, Desquamative, Familial

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74 UMLS via Orphanet
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