MCID: PLM006
MIFTS: 53

Pulmonary Alveolar Proteinosis malady

Respiratory diseases, Rare diseases categories
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Summaries for Pulmonary Alveolar Proteinosis

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Disease Ontology:8 A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

MalaCards based summary: Pulmonary Alveolar Proteinosis is related to respiratory failure and pulmonary fibrosis. An important gene associated with Pulmonary Alveolar Proteinosis is SFTPB (surfactant protein B), and among its related pathways are Regulation of retinoblastoma protein and Calcineurin-regulated NFAT-dependent transcription in lymphocytes. The compounds infasurf and 1,2-dipalmitoyl-sn-glycero-3-phosphocholine have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and bone marrow, and related mouse phenotypes are homeostasis/metabolism and immune system.

Wikipedia:65 Pulmonary alveolar proteinosis (abbreviated PAP), is a rare lung disease in which abnormal accumulation... more...

Aliases & Classifications for Pulmonary Alveolar Proteinosis

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Sources:
8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM
See all sources

Pulmonary Alveolar Proteinosis, Aliases & Descriptions:

Name: Pulmonary Alveolar Proteinosis 8 22 10 44 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Respiratory diseases


External Ids:

Disease Ontology8 DOID:12120
MeSH34 D011649
SNOMED-CT57 10501004
NCIt39 C85037
ICD9CM27 516.0

Related Diseases for Pulmonary Alveolar Proteinosis

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Diseases in the Pulmonary Alveolar Proteinosis family:

Congenital Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis Acquired

Diseases related to Pulmonary Alveolar Proteinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory failure31.0SFTPB, SFTPD
2pulmonary fibrosis31.0SFTPC, SFTPD
3pneumonia30.9SFTPB, SFTPD, SFTPC, CSF2
4myelodysplastic syndromes30.8IL3, CSF2, CSF1
5idiopathic pulmonary fibrosis30.7SFTPB, SFTPD, SFTPC
6lung cancer30.5SFTPB, SFTPD, CSF2
7aspergillosis30.4SFTPD, CSF1
8myeloid leukemia30.3CSF1, CSF2, IL3
9eosinophilia30.1CSF1, CSF2, IL3
10myeloma30.0IL3, CSF2, CSF1
11idiopathic pulmonary alveolar proteinosis11.0
12congenital pulmonary alveolar proteinosis10.8
13leukemia10.8
14tuberculosis10.6
15lysinuric protein intolerance10.6
16pulmonary alveolar proteinosis acquired10.6
17surfactant metabolism dysfunction, pulmonary, 110.5
18meconium aspiration syndrome10.5SFTPB
19arthritis10.4
20chronic myeloid leukemia10.4
21fanconi's anemia10.4
22desquamative interstitial pneumonia10.4
23cryptococcosis10.4
24amyloidosis10.4
25lung squamous cell carcinoma10.4
26mediastinitis10.4
27pneumothorax10.4
28psoriasis10.4
29surfactant metabolism dysfunction, pulmonary, 510.4
30behcet's disease10.3
31common variable immunodeficiency10.3
32glomerulonephritis10.3
33lymphoid leukemia10.3
34multiple myeloma10.3
35silicosis10.3
36systemic lupus erythematosus10.3
37pulmonary tuberculosis10.3
38nocardiosis10.3
39congenital dyserythropoietic anemia10.3
40acquired immunodeficiency syndrome10.3
41septic arthritis10.3
42adenosine deaminase deficiency10.3
43bronchiectasis10.3
44pulmonary alveolar microlithiasis10.3
45wegener's granulomatosis10.3
46lipid pneumonia10.3
47lymphangioleiomyomatosis10.3
48cerebritis10.3
49hermansky-pudlak syndrome10.3
50agammaglobulinemia10.3

Graphical network of the top 20 diseases related to Pulmonary Alveolar Proteinosis:



Diseases related to pulmonary alveolar proteinosis

Symptoms for Pulmonary Alveolar Proteinosis

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Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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Drug clinical trials:

Search ClinicalTrials for Pulmonary Alveolar Proteinosis

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis

Genetic Tests for Pulmonary Alveolar Proteinosis

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Genetic tests related to Pulmonary Alveolar Proteinosis:

id Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis22

Anatomical Context for Pulmonary Alveolar Proteinosis

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MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

32
Lung, Myeloid, Bone marrow, Bone, Monocytes, Brain, Heart, Breast, Testes, T cells, Neutrophil

Animal Models for Pulmonary Alveolar Proteinosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Alveolar Proteinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.6CSF1, CSF2, IL3, SFTPD, SFTPB
2MP:00053877.2SFTPD, SFTPC, IL3, CSF2, CSF1
3MP:00053887.1CSF1, CSF2, IL3, SFTPC, SFTPD, SFTPB
4MP:00107687.0SFTPB, SFTPD, SFTPC, IL3, CSF2, CSF1

Publications for Pulmonary Alveolar Proteinosis

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Articles related to Pulmonary Alveolar Proteinosis:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Secondary pulmonary alveolar proteinosis in hematologic malignancies. (25300566)
2014
2
Localized pulmonary alveolar proteinosis: two case reports. (25337424)
2014
3
A crazy cause of dyspnoea: pulmonary alveolar proteinosis. (25152273)
2014
4
Development of pulmonary alveolar proteinosis following exposure to dust after the Great East Japan Earthquake. (24238228)
2013
5
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis. (23918747)
2013
6
Pulmonary alveolar proteinosis requiring "hybrid" extracorporeal life support, and complicated by acute necrotizing pneumonia. (23523160)
2013
7
Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis. (24275678)
2013
8
Extracorporeal membrane oxygenation to support whole-lung lavage in pulmonary alveolar proteinosis: salvage of the drowned lungs. (23328142)
2013
9
Pulmonary alveolar proteinosis: quantitative CT and pulmonary functional correlations. (21621361)
2012
10
Spontaneous pulmonary alveolar proteinosis in captive "moustached tamarins" (Saguinus mystax). (21734058)
2012
11
Pulmonary alveolar proteinosis in an indium-processing worker. (20529594)
2010
12
Pulmonary alveolar proteinosis in a 67-year-old woman with Wegener's granulomatosis. (20623200)
2010
13
Patient-derived granulocyte/macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. (20224064)
2010
14
Whole-lung lavage in infants and children with pulmonary alveolar proteinosis. (21199121)
2010
15
F-18 FDG PET/CT in pulmonary alveolar proteinosis. (19352264)
2009
16
Differences in the immunolocalization of surfactant protein (SP)-A, SP-D, and KL-6 in pulmonary alveolar proteinosis. (18251786)
2008
17
Secondary pulmonary alveolar proteinosis in a patient with chronic myeloid leukemia in the accelerated phase. (21318986)
2008
18
GM-CSF autoantibodies in pulmonary alveolar proteinosis. (17506160)
2007
19
Pulmonary alveolar proteinosis--is host defense awry? (17287475)
2007
20
Pulmonary alveolar proteinosis. (16916009)
2006
21
Pulmonary alveolar proteinosis with myeloproliferative syndrome with myelodysplasia: bronchoalveolar lavage reduces white blood cell count. (16906593)
2006
22
Serum antibody against granulocyte/macrophage colony-stimulating factor and KL-6 in idiopathic pulmonary alveolar proteinosis. (16565598)
2006
23
Pulmonary alveolar proteinosis. What is the role of GM-CSF in disease pathogenesis and treatment? (15350161)
2004
24
Secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome. (12636240)
2003
25
Analysis of the GM-CSF and GM-CSF/IL-3/IL-5 receptor common beta chain in a patient with pulmonary alveolar proteinosis. (11930665)
2002
26
Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. (10764326)
2000
27
Pulmonary alveolar proteinosis in a child: HRCT findings before and after bronchoalveolar lavage. (9866787)
1998
28
Serum KL-6 level as a monitoring marker in a patient with pulmonary alveolar proteinosis. (10319067)
1998
29
Pulmonary alveolar proteinosis with respiratory failure--therapeutic role of bronchoscopic and whole lung lavage. (11229289)
1998
30
Immunoglobulin G is associated with surfactant protein A aggregate isolated from patients with pulmonary alveolar proteinosis. (9154892)
1997
31
Pulmonary alveolar proteinosis. (9157392)
1997
32
Bronchoalveolar lavage cytology in pulmonary alveolar proteinosis. (8853040)
1996
33
Interstitial lattice shadow and mediastinal lymphadenopathy with an elevation of carcinoembryonic antigen in severe pulmonary alveolar proteinosis. (1611200)
1992
34
Pulmonary alveolar proteinosis (with review of literature). (3060464)
1988
35
Pulmonary alveolar proteinosis complicated by cerebral abscess: report of a case. (3528083)
1986
36
Inorganic particulates associated with pulmonary alveolar proteinosis: SEM and X-ray microanalysis results. (3036185)
1986
37
Pulmonary alveolar proteinosis in the newborn. (3838881)
1985
38
Pulmonary alveolar proteinosis: prospective clinical experience in 23 patients for 15 years. (6492867)
1984
39
Progressive intrapartum respiratory insufficiency due to pulmonary alveolar proteinosis. Amelioration by therapeutic whole-lung bronchopulmonary lavage. (6468015)
1984
40
The immunoinhibitory activities of the lung lavage materials and sera from patients with pulmonary alveolar proteinosis (PAP). (6894313)
1981
41
Particulate concentrations in pulmonary alveolar proteinosis. (318522)
1978
42
Pulmonary Alveolar proteinosis. Lobar localization and surgical excision. (1262145)
1976
43
Pulmonary alveolar proteinosis--physiologic observations during and after pulmonary lavage. (4531921)
1973
44
Pulmonary alveolar proteinosis. Home treatment with intermittent positive pressure breathing. (4573995)
1973
45
Pulmonary alveolar proteinosis. (5058156)
1972
46
Focal pulmonary alveolar proteinosis in pulmonary tuberculosis. (5766260)
1969
47
Pulmonary alveolar proteinosis. (6071228)
1967
48
Pulmonary alveolar proteinosis. Treatment in a case complicated by tuberculosis. (6066626)
1967
49
Pulmonary alveolar proteinosis presenting with pneumothorax. (6073913)
1967
50
Studies of pulmonary alveolar microlithiasis and pulmonary alveolar proteinosis. (13775542)
1960

Variations for Pulmonary Alveolar Proteinosis

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Expression for genes affiliated with Pulmonary Alveolar Proteinosis

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Expression patterns in normal tissues for genes affiliated with Pulmonary Alveolar Proteinosis

Search GEO for disease gene expression data for Pulmonary Alveolar Proteinosis.

Pathways for genes affiliated with Pulmonary Alveolar Proteinosis

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Compounds for genes affiliated with Pulmonary Alveolar Proteinosis

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Compounds related to Pulmonary Alveolar Proteinosis according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1infasurf4410.0SFTPB, SFTPC
21,2-dipalmitoyl-sn-glycero-3-phosphocholine4410.0SFTPC, SFTPB
3dppg4410.0SFTPB, SFTPC
4popg4410.0SFTPC, SFTPB
5curosurf449.9SFTPB, SFTPC
6survanta449.9SFTPC, SFTPB
7dopc449.9SFTPB, SFTPC
8bmmp449.7IL3, CSF2
9dppc449.7SFTPB, SFTPC
10pegfilgrastim44 1110.5CSF2, IL3
11mesna449.4CSF2, IL3
12doxycycline44 1110.4SFTPB, SFTPC, IL3
13a23187449.3CSF2, IL3
14bleomycin44 1110.3SFTPC, CSF2, SFTPB
15thiotepa44 50 1111.0CSF2, IL3
16molgramostim449.0CSF2, CSF1, IL3
17pixy321448.9CSF1, CSF2, IL3
18filgrastim44 119.9CSF2, CSF1, IL3
19bryostatin 1448.9CSF1, CSF2, IL3
20ltc4448.9CSF2, CSF1, IL3
21gm-csf44 289.9CSF1, CSF2, IL3
22budesonide44 50 1110.9CSF1, CSF2, SFTPD
23ifosfamide44 119.9CSF1, IL3, CSF2
24mitoxantrone44 50 1110.9CSF2, CSF1, IL3
25methylcellulose448.9CSF1, CSF2, IL3
26il 10448.9CSF1, CSF2, IL3
27anti-fungal448.9CSF1, CSF2, SFTPD
28n-formylmethionyl-leucylphenylalanine448.9CSF1, IL3, CSF2
29ivig448.9CSF1, CSF2, IL3
30neopterin448.8CSF1, CSF2, IL3
31daunorubicin44 50 1110.8IL3, CSF2, CSF1
32zidovudine44 50 1110.8IL3, CSF1, CSF2
33carboplatin44 50 1110.8CSF2, CSF1, IL3
34hydroxyurea44 50 1110.7CSF2, IL3, CSF1
35gp 130448.7IL3, CSF2, CSF1
36leukotriene b444 61 2410.7IL3, CSF2, CSF1
37chloramphenicol44 2 50 1111.7CSF1, IL3, SFTPC, SFTPB
38inositol448.5CSF1, SFTPD, CSF2
3912-o-tetradecanoylphorbol 13-acetate448.5CSF2, IL3, SFTPB, CSF1
40valine448.5IL3, CSF2, CSF1, SFTPC
41cytarabine44 50 1110.4CSF2, IL3, CSF1
42histamine44 28 2410.4IL3, CSF2, CSF1, SFTPD
43lactate448.3SFTPD, IL3, CSF2, CSF1
44phosphatidylcholine448.2SFTPC, SFTPB, SFTPD, CSF1, IL3
45actinomycin d448.1CSF1, CSF2, IL3, SFTPC, SFTPB
46cycloheximide448.1SFTPC, IL3, CSF2, CSF1, SFTPB
47retinoic acid44 249.0CSF1, CSF2, IL3, SFTPC, SFTPB
48thymidine44 249.0SFTPB, CSF1, CSF2, IL3, SFTPD
49dexamethasone44 50 28 1110.6CSF2, CSF1, SFTPD, SFTPB, SFTPC, IL3
50cysteine447.6SFTPB, SFTPD, SFTPC, IL3, CSF2, CSF1

GO Terms for genes affiliated with Pulmonary Alveolar Proteinosis

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Cellular components related to Pulmonary Alveolar Proteinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056157.1CSF1, CSF2, IL3, SFTPC, SFTPD, SFTPB

Biological processes related to Pulmonary Alveolar Proteinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.2IL3, CSF2
2respiratory gaseous exchangeGO:0075859.2SFTPC, SFTPD, SFTPB
3positive regulation of macrophage derived foam cell differentiationGO:0107449.0CSF1, CSF2
4positive regulation of DNA replicationGO:0457409.0CSF2, IL3
5positive regulation of cell proliferationGO:0082848.5CSF1, CSF2, IL3

Molecular functions related to Pulmonary Alveolar Proteinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051258.5CSF1, CSF2, IL3
2growth factor activityGO:0080838.2CSF1, CSF2, IL3

Products for genes affiliated with Pulmonary Alveolar Proteinosis

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Sources for Pulmonary Alveolar Proteinosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet