MCID: PLM006
MIFTS: 48

Pulmonary Alveolar Proteinosis malady

Categories: Respiratory diseases, Rare diseases, Blood diseases

Aliases & Classifications for Pulmonary Alveolar Proteinosis

Aliases & Descriptions for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 12 29 52 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
ICD10 33 J84.01
ICD9CM 35 516.0
MeSH 42 D011649
NCIt 47 C85037
SNOMED-CT 64 10501004
UMLS 69 C0034050

Summaries for Pulmonary Alveolar Proteinosis

Disease Ontology : 12 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 pulmonary alveolar proteinosis, acquired and congenital pulmonary alveolar proteinosis, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is SFTPB (Surfactant Protein B), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and bone, and related phenotype is respiratory system.

Wikipedia : 71 Pulmonary alveolar proteinosis (PAP) is a rare lung disease in which abnormal accumulation of pulmonary... more...

Related Diseases for Pulmonary Alveolar Proteinosis

Diseases in the Pulmonary Alveolar Proteinosis family:

Pulmonary Alveolar Proteinosis, Acquired Congenital Pulmonary Alveolar Proteinosis
Hereditary Pulmonary Alveolar Proteinosis Secondary Pulmonary Alveolar Proteinosis

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

(show top 50) (show all 104)
id Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 12.6
2 congenital pulmonary alveolar proteinosis 12.5
3 hereditary pulmonary alveolar proteinosis 12.3
4 secondary pulmonary alveolar proteinosis 12.3
5 interstitial lung and liver disease 11.9
6 surfactant metabolism dysfunction, pulmonary, 1 11.7
7 surfactant metabolism dysfunction, pulmonary, 5 11.7
8 surfactant metabolism dysfunction, pulmonary, 4 11.7
9 lysinuric protein intolerance 11.4
10 immunodeficiency 21 11.2
11 pulmonary surfactant metabolism dysfunction 11.2
12 surfactant metabolism dysfunction, pulmonary, 3 11.1
13 abca3-related pulmonary surfactant metabolism dysfunction 11.1
14 csf2ra-related pulmonary surfactant metabolism dysfunction 11.1
15 csfrb-related pulmonary surfactant metabolism dysfunction 11.1
16 surfactant metabolism dysfunction, pulmonary, 2 11.1
17 sftpb-related pulmonary surfactant metabolism dysfunction 11.1
18 sftpc-related pulmonary surfactant metabolism dysfunction 11.1
19 myelodysplastic syndrome 10.3
20 leukemia 10.3
21 pneumonia 10.3
22 pulmonary fibrosis 10.2
23 ectodermal dysplasia with natal teeth, turnpenny type 10.2 SFTPB SFTPC
24 back pain 10.2 SFTPB SFTPC
25 transverse myelitis 10.2 SFTPB SFTPD
26 respiratory failure 10.2
27 esophagus lymphoma 10.2 CSF2 SFTPB
28 behavioral variant of frontotemporal dementia 10.2 CSF2RA CSF2RB
29 osteochondritis dissecans 10.2 SFTPB SFTPC
30 lung cancer 10.1
31 tuberculosis 10.1
32 common wart 10.1 SFTPB SFTPC SFTPD
33 conjunctivochalasis 10.1 SFTPB SFTPC SFTPD
34 adnp syndrome 10.1 SFTPB SFTPC SFTPD
35 anogenital venereal wart 10.0 SFTPB SFTPC SFTPD
36 cryptococcosis 10.0
37 lung disease 10.0
38 myeloid leukemia 10.0
39 imperforate anus 10.0 SFTPB SFTPC
40 medullary cystic kidney disease 1 10.0 CSF2 CSF2RA GATA2
41 malignant oculomotor nerve tumor 9.9 CCL2 SFTPC
42 systemic lupus erythematosus 9.9
43 pick disease 9.9
44 lung squamous cell carcinoma 9.9
45 arthritis 9.9
46 pneumothorax 9.9
47 squamous cell carcinoma 9.9
48 mediastinitis 9.9
49 lupus erythematosus 9.9
50 niemann-pick disease 9.9

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



Diseases related to Pulmonary Alveolar Proteinosis

Symptoms & Phenotypes for Pulmonary Alveolar Proteinosis

UMLS symptoms related to Pulmonary Alveolar Proteinosis:


hemoptysis

MGI Mouse Phenotypes related to Pulmonary Alveolar Proteinosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 CSF1 CSF2 CSF2RB SFTPB SFTPC SFTPD

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

Drugs for Pulmonary Alveolar Proteinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents Phase 2, Phase 3
2 Antibiotics, Antitubercular Phase 2, Phase 3
3 Autoantibodies Phase 2, Phase 3,Phase 1
4 Pulmonary Surfactants Phase 2, Phase 3
5 molgramostim Phase 2, Phase 3,Phase 1
6 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
7
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
8 Antibodies Phase 2,Phase 1
9 Antirheumatic Agents Phase 2,Phase 1
10 Immunoglobulins Phase 2,Phase 1
11 Antibodies, Monoclonal Phase 1
12
Nicotine Approved 54-11-5 942 89594
13 Protein C
14 Respiratory System Agents

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Whole Lung Lavage (WLL)/Inhaled Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT00901511 Phase 2, Phase 3
2 Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Recruiting NCT02702180 Phase 2, Phase 3
3 Prospective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2
4 Study of Subcutaneous Injection of Low-dose rhGM-CSF +/- WLL in PAP. Unknown status NCT01983657 Phase 2
5 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2
6 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Recruiting NCT02243228 Phase 2
7 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Active, not recruiting NCT02835742 Phase 2
8 GM-CSF in Patients With Pulmonary Alveolar Proteinosis Terminated NCT00030056 Phase 2
9 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1
10 Inhaled Molgramostim (rhGM-CSF) in Healthy Adult Subjects Completed NCT02468908 Phase 1
11 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Recruiting NCT01842386 Phase 1
12 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Not yet recruiting NCT03006146 Phase 1
13 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
14 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
15 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Recruiting NCT02081092
16 European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank Recruiting NCT02852928
17 Natural History Study of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
18 Epidemiology of Surfactant Protein-B Deficiency Recruiting NCT00014859

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis

Cochrane evidence based reviews: pulmonary alveolar proteinosis

Genetic Tests for Pulmonary Alveolar Proteinosis

Genetic tests related to Pulmonary Alveolar Proteinosis:

id Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis 29

Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

39
Lung, Myeloid, Bone, Bone Marrow, Testes, Monocytes, Breast

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 604)
id Title Authors Year
1
Pulmonary Alveolar Proteinosis in Association with Secondary Hemophagocytic Lymphohistiocytosis. ( 28088396 )
2017
2
Lung Transplant Recipient with Pulmonary Alveolar Proteinosis. ( 27213073 )
2016
3
Management of pulmonary alveolar proteinosis with whole lung lavage using extracorporeal membrane oxygenation support in a postrenal transplant patient with graft failure. ( 27052091 )
2016
4
Analysis of bronchoalveolar lavage fluid in a first Romanian pulmonary alveolar proteinosis cohort. ( 27833966 )
2016
5
A Lung Lavage Technique in an Infant with Pulmonary Alveolar Proteinosis. ( 27424073 )
2016
6
Role of granulocyte-macrophage colony-stimulating factor in pulmonary fibrosis following pulmonary alveolar proteinosis. ( 27512562 )
2016
7
Disseminated Cryptococcosis Due to Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Absence of Pulmonary Alveolar Proteinosis. ( 28013480 )
2016
8
Recurrence of pulmonary alveolar proteinosis after bilateral lung transplantation in a patient with a nonsense mutation in CSF2RB. ( 27595063 )
2016
9
Two cases of autoimmune and secondary pulmonary alveolar proteinosis during immunosuppressive therapy in dermatomyositis with interstitial lung disease. ( 26872621 )
2016
10
Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. ( 27799394 )
2016
11
Anesthetic Management for Whole Lung Lavage in Patients with Pulmonary Alveolar Proteinosis. ( 26795910 )
2016
12
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
13
Whole Lung Lavage in a Pulmonary Alveolar Proteinosis Patient with Severe Respiratory Failure. ( 27366571 )
2016
14
MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis. ( 27108412 )
2016
15
Murine iPSC-Derived Macrophages as a Tool for Disease Modeling of Hereditary Pulmonary Alveolar Proteinosis due to Csf2rb Deficiency. ( 27453007 )
2016
16
Rituximab improved systemic lupus erythematosus-associated pulmonary alveolar proteinosis without decreasing anti-GM-CSF antibody levels. ( 26843507 )
2016
17
Death Due to Pulmonary Alveolar Proteinosis. ( 27879496 )
2016
18
Pulmonary alveolar proteinosis: another autoimmune disease associated with sarcoidosis? ( 27055841 )
2016
19
Autoantibody-Mediated Pulmonary Alveolar Proteinosis in Rasgrp1-Deficient Mice. ( 27279372 )
2016
20
Increase in autoimmune pulmonary alveolar proteinosis after the 2011 Fukushima disaster. ( 26806057 )
2016
21
"Crazy-paving" pattern: A characteristic presentation of pulmonary alveolar proteinosis and a review of the literature from India. ( 27186004 )
2016
22
Pulmonary alveolar proteinosis: Experience from a tertiary care center and systematic review of Indian literature. ( 27890991 )
2016
23
Pulmonary alveolar proteinosis-like change: A fairly common reaction associated with the severity of idiopathic pulmonary fibrosis. ( 27424827 )
2016
24
The Clinical Clues of Pulmonary Alveolar Proteinosis: A Report of 11 Cases and Literature Review. ( 27445535 )
2016
25
Rare Presentation of Pulmonary Alveolar Proteinosis Causing Acute Respiratory Failure. ( 27445536 )
2016
26
Successful Treatment of Autoimmune Pulmonary Alveolar Proteinosis in a Pediatric Patient. ( 27592713 )
2016
27
Pulmonary Fibrosis on High-Resolution CT of Patients With Pulmonary Alveolar Proteinosis. ( 27548000 )
2016
28
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance. ( 27783330 )
2016
29
Pulmonary alveolar proteinosis in a marble worker. ( 27518894 )
2016
30
Abstract OR001: Extracorporeal Membrane Oxygenation to Support Whole Lung Lavage in A Patient with Pulmonary Alveolar Proteinosis. ( 27560787 )
2016
31
A New Scale to Assess the Severity and Prognosis of Pulmonary Alveolar Proteinosis. ( 27635117 )
2016
32
A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis. ( 27396783 )
2016
33
Pulmonary Alveolar Proteinosis Syndrome. ( 27514590 )
2016
34
Pulmonary Alveolar Proteinosis: Crazy Paving to Whole Lung Lavage. ( 27814844 )
2016
35
Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures. ( 27577926 )
2016
36
Induced sputum deposition improves diagnostic yields of pulmonary alveolar proteinosis: A clinicopathological and methodological study of 17 cases. ( 26583435 )
2016
37
Pulmonary alveolar proteinosis: a case report and world literature review. ( 28031836 )
2016
38
X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis. ( 27324886 )
2016
39
A rare case of everolimus-induced pulmonary alveolar proteinosis. ( 26525403 )
2015
40
Respiratory Strategies and Airway Management in Patients with Pulmonary Alveolar Proteinosis: A Review. ( 26495308 )
2015
41
Whole Lung Lavage Treatment of Chinese Patients with Autoimmune Pulmonary Alveolar Proteinosis: A Retrospective Long-term Follow-up Study. ( 26481735 )
2015
42
Anesthetic techniques to facilitate lung lavage for pulmonary alveolar proteinosis in children-new airway techniques and a review of the literature. ( 25664978 )
2015
43
Possible Involvement of Lung Cells Harboring an Abnormal Karyotype in the Pathogenesis of Pulmonary Alveolar Proteinosis Associated with Myelodysplastic Syndrome. ( 26317278 )
2015
44
Pulmonary alveolar proteinosis and clear cell renal cell carcinoma. ( 26148820 )
2015
45
Extracorporeal membrane oxygenation to support repeated whole-lung lavage in a patient with pulmonary alveolar proteinosis in life threatening dyspnoe--a case report. ( 26621369 )
2015
46
Rare combination of congenital heart disease and pulmonary alveolar proteinosis. ( 26310609 )
2015
47
High fever and multi-nodular lung consolidations after whole lung lavage in a patient with pulmonary alveolar proteinosis. ( 25694861 )
2015
48
Neutralization and clearance of GM-CSF by autoantibodies in pulmonary alveolar proteinosis. ( 26077231 )
2015
49
Pulmonary Alveolar Proteinosis: A Rare Cause of Respiratory Failure. ( 26208564 )
2015
50
Serial bronchoscopic lung lavage in pulmonary alveolar proteinosis under local anesthesia. ( 25814803 )
2015

Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811

Expression for Pulmonary Alveolar Proteinosis

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

Pathways for Pulmonary Alveolar Proteinosis

Pathways related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 CCL2 CSF1 CSF2 CSF2RA CSF2RB
2
Show member pathways
13.08 CCL2 CSF1 CSF2 CSF2RA CSF2RB
3
Show member pathways
13.02 CCL2 CSF1 CSF2 CSF2RA CSF2RB
4 12.27 CCL2 CSF2RB GATA2
5
Show member pathways
11.95 CSF2 CSF2RA CSF2RB
6
Show member pathways
11.88 CSF2 CSF2RA CSF2RB
7 11.69 CCL2 CSF1 CSF2
8 11.62 CSF1 CSF2 CSF2RA
9 11.56 CCL2 CSF1 CSF2
10
Show member pathways
11.54 CSF2RA CSF2RB SFTPB SFTPC SFTPD
11 11.38 CCL2 CSF2 SFTPC
12 11.34 CSF2 SFTPD
13 11.23 CCL2 CSF1 CSF2
14 11.18 CSF1 CSF2 GATA2
15 11.11 CCL2 CSF1 CSF2RB
16 11.04 CSF1 CSF2
17
Show member pathways
10.99 CSF2RA CSF2RB SFTPB SFTPC SFTPD
18 10.95 CCL2 CSF1 CSF2
19 10.71 CCL2 CSF1
20 10.61 CSF1 CSF2
21
Show member pathways
10.42 CSF2RA CSF2RB SFTPB SFTPC SFTPD

GO Terms for Pulmonary Alveolar Proteinosis

Cellular components related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 CCL2 CSF1 CSF2 SFTPB SFTPC SFTPD
2 extracellular region GO:0005576 9.8 CCL2 CSF1 CSF2 CSF2RA SFTPB SFTPC
3 endocytic vesicle GO:0030139 9.37 CCL2 SFTPD
4 multivesicular body lumen GO:0097486 9.16 SFTPB SFTPC
5 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPB SFTPC SFTPD
6 lamellar body GO:0042599 8.8 SFTPB SFTPC SFTPD

Biological processes related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.83 CCL2 CSF2 CSF2RA CSF2RB
2 peptidyl-tyrosine phosphorylation GO:0018108 9.65 CSF2 CSF2RA CSF2RB
3 cytokine-mediated signaling pathway GO:0019221 9.58 CCL2 CSF2RA CSF2RB
4 homeostasis of number of cells within a tissue GO:0048873 9.51 CSF1 GATA2
5 positive regulation of phagocytosis GO:0050766 9.49 GATA2 SFTPD
6 embryonic placenta development GO:0001892 9.46 CSF2 GATA2
7 MAPK cascade GO:0000165 9.46 CCL2 CSF2 CSF2RA CSF2RB
8 cellular response to platelet-derived growth factor stimulus GO:0036120 9.43 CCL2 MARS
9 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.37 CSF1 CSF2
10 positive regulation of macrophage chemotaxis GO:0010759 9.32 CCL2 CSF1
11 macrophage chemotaxis GO:0048246 9.26 CCL2 SFTPD
12 respiratory gaseous exchange GO:0007585 9.26 CSF2RB SFTPB SFTPC SFTPD
13 cellular protein metabolic process GO:0044267 9.1 CSF1 CSF2RA CSF2RB SFTPB SFTPC SFTPD

Molecular functions related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.33 CCL2 CSF1 CSF2
2 cytokine receptor activity GO:0004896 9.26 CSF2RA CSF2RB
3 protein tyrosine kinase activity GO:0004713 9.13 CSF2 CSF2RA CSF2RB
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 CSF2 CSF2RA CSF2RB

Sources for Pulmonary Alveolar Proteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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