MCID: PLM006
MIFTS: 49

Pulmonary Alveolar Proteinosis

Categories: Rare diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 12 72 36 28 51 41 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
ICD10 32 J84.01
ICD9CM 34 516.0
MeSH 41 D011649
NCIt 46 C85037
SNOMED-CT 64 10501004
KEGG 36 H01122
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 respiratory failure and myelodysplastic syndrome, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is MARS (Methionyl-TRNA Synthetase), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and Jak-STAT signaling pathway. The drugs Molgramostim and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and bone marrow, and related phenotype is respiratory system.

Wikipedia : 72 Pulmonary alveolar proteinosis (PAP) is a rare lung disease in which an abnormal accumulation of... 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 116)
# Related Disease Score Top Affiliating Genes
1 respiratory failure 30.3 SFTPB SFTPC SFTPD
2 myelodysplastic syndrome 30.2 CSF1 CSF2 GATA2
3 pulmonary fibrosis 29.8 CCL2 SFTPC SFTPD
4 pneumonia 29.7 CCL2 SFTPB SFTPC SFTPD
5 silicosis 29.5 CCL2 SFTPD
6 leukemia, acute myeloid 29.3 CSF1 CSF2 GATA2
7 pulmonary fibrosis, idiopathic 29.2 CCL2 SFTPB SFTPC SFTPD
8 arthritis 29.1 CCL2 CSF1 CSF2
9 interstitial lung disease 28.9 CCL2 SFTPB SFTPC SFTPD
10 lung disease 28.8 CCL2 CSF2 SFTPB SFTPC SFTPD
11 pulmonary alveolar proteinosis, acquired 12.8
12 congenital pulmonary alveolar proteinosis 12.7
13 hereditary pulmonary alveolar proteinosis 12.4
14 secondary pulmonary alveolar proteinosis 12.4
15 surfactant metabolism dysfunction, pulmonary, 1 12.1
16 surfactant metabolism dysfunction, pulmonary, 4 12.1
17 surfactant metabolism dysfunction, pulmonary, 5 12.1
18 interstitial lung and liver disease 12.1
19 surfactant metabolism dysfunction, pulmonary, 3 11.7
20 immunodeficiency 21 11.7
21 lysinuric protein intolerance 11.5
22 surfactant metabolism dysfunction, pulmonary, 2 11.4
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.6
24 fibrosis of extraocular muscles, congenital, 1 10.4
25 leukemia 10.4
26 respiratory distress syndrome in premature infants 10.3 SFTPB SFTPC
27 neonatal respiratory failure 10.3 SFTPB SFTPC
28 surfactant dysfunction 10.3 SFTPB SFTPC
29 diaphragm disease 10.3 SFTPB SFTPC
30 meconium aspiration syndrome 10.2 CSF2 SFTPB
31 tracheal agenesis 10.2 SFTPB SFTPD
32 lung cancer 10.2
33 mycobacterium tuberculosis 1 10.2
34 autoimmune disease 10.1
35 autoimmune disease 1 10.1
36 cryptococcosis 10.1
37 myeloid leukemia 10.1
38 systemic lupus erythematosus 10.0
39 interstitial pneumonitis, desquamative, familial 10.0
40 aging 10.0
41 leukemia, chronic myeloid 10.0
42 aspergillosis 10.0
43 niemann-pick disease 10.0
44 desquamative interstitial pneumonia 10.0
45 pneumothorax 10.0
46 squamous cell carcinoma 10.0
47 lung squamous cell carcinoma 10.0
48 pustulosis of palm and sole 10.0
49 mediastinitis 10.0
50 lupus erythematosus 10.0

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 SFTPB SFTPC SFTPD CSF1 CSF2

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Molgramostim Investigational Phase 2, Phase 3,Phase 1 99283-10-0
2 Anti-Bacterial Agents Phase 2, Phase 3
3 Antibiotics, Antitubercular Phase 2, Phase 3
4 Autoantibodies Phase 2, Phase 3,Phase 1
5 Pulmonary Surfactants Phase 2, Phase 3
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
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
12 Hypoglycemic Agents Phase 1
13 Antibodies, Monoclonal Phase 1
14
Nicotine Approved 54-11-5 89594 942
15
Protein C Approved
16 Respiratory System Agents

Interventional clinical trials:

(show all 20)

# Name Status NCT ID Phase Drugs
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 GM-CSF [Leukine (Sargramostim)]
2 Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Recruiting NCT02702180 Phase 2, Phase 3 molgramostim;placebo
3 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT02243228 Phase 2 GM-CSF
4 Prospective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2 rituximab
5 Study of Subcutaneous Injection of Low-dose rhGM-CSF +/- WLL in PAP. Unknown status NCT01983657 Phase 2 rhGM-CSF
6 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine
7 Sequential Therapy With WLL/Inhaling GM-CSF for Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03316651 Phase 2 GM-CSF
8 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Active, not recruiting NCT02835742 Phase 2 Sargramostim;Placebo
9 GM-CSF in Patients With Pulmonary Alveolar Proteinosis Terminated NCT00030056 Phase 2 GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
10 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1 Sargramostim
11 Inhaled Molgramostim (rhGM-CSF) in Healthy Adult Subjects Completed NCT02468908 Phase 1 Molgramostim;Placebo
12 Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03231033 Phase 1 Pioglitazone
13 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03006146 Phase 1 Sargramostim
14 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Recruiting NCT01842386 Phase 1 Rituximab/Rituxan
15 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
16 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
17 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Recruiting NCT02081092
18 European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank Recruiting NCT02852928
19 Natural History Study of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
20 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:

# Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis 28

Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

38
Lung, Myeloid, Bone Marrow, Brain, Bone, Testes, Monocytes

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 642)
# Title Authors Year
1
Secondary pulmonary alveolar proteinosis: a single-center retrospective study (a case series and literature review). ( 29368649 )
2018
2
Pulmonary alveolar proteinosis in adults: pathophysiology and clinical approach. ( 29397349 )
2018
3
Clinical significance of serum anti-GM-CSF autoantibody levels in autoimmune pulmonary alveolar proteinosis. ( 29202602 )
2018
4
Severe Pulmonary Alveolar Proteinosis in a Young Adult. ( 29307537 )
2018
5
Cytopathological examination of bronchoalveolar lavage fluid in diagnosis of pulmonary alveolar proteinosis. ( 29403217 )
2018
6
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile. ( 28212655 )
2017
7
A pediatric case of relapsed pulmonary alveolar proteinosis despite successful whole lung lavage. ( 28861115 )
2017
8
Elevated Serum Anti-GM-CSF Antibodies before the Onset of Autoimmune Pulmonary Alveolar Proteinosis in a Patient with Sarcoidosis and Systemic Sclerosis. ( 28966213 )
2017
9
Pulmonary Alveolar Proteinosis in Association with Secondary Hemophagocytic Lymphohistiocytosis. ( 28088396 )
2017
10
An Alternative Lung Isolation Technique in Paediatric Pulmonary Alveolar Proteinosis. ( 29114417 )
2017
11
Pathological features of explant lungs with fibrosis in autoimmune pulmonary alveolar proteinosis. ( 28748093 )
2017
12
Bilateral lung disease, extensive and diffuse. Diagnosis of pulmonary alveolar proteinosis by bronchoscopic cryobiopsy. ( 29021953 )
2017
13
Brain abscess due to Nocardia infection in an immunocompetent patient with asymptomatic pulmonary alveolar proteinosis. ( 28718013 )
2017
14
Does dust-associated pulmonary alveolar proteinosis represent an autoimmune disorder? ( 28514019 )
2017
15
Recurrent pulmonary alveolar proteinosis in an immunocompromised host. ( 29110133 )
2017
16
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency. ( 29263235 )
2017
17
A Semiquantitative Computed Tomographic Grading System for Evaluating Therapeutic Response in Pulmonary Alveolar Proteinosis. ( 28489417 )
2017
18
Pulmonary Alveolar Proteinosis. ( 29240908 )
2017
19
Sequential Granulocyte-Macrophage Colony-Stimulating Factor Inhalation after Whole-Lung Lavage for Pulmonary Alveolar Proteinosis. A Report of Five Intractable Cases. ( 28421817 )
2017
20
Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective. ( 28771412 )
2017
21
Haemodynamically proven pulmonary hypertension in a patient with GATA2 deficiency-associated pulmonary alveolar proteinosis and fibrosis. ( 28495695 )
2017
22
Clinical significance of cigarette smoking and dust exposure in pulmonary alveolar proteinosis: a Korean national survey. ( 29162083 )
2017
23
Pulmonary Alveolar Proteinosis: Crazing-Paving Appearance. ( 29191486 )
2017
24
Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption. ( 28233860 )
2017
25
Pulmonary alveolar proteinosis: a case report. ( 28914826 )
2017
26
Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age. ( 28512724 )
2017
27
Cytogenetic evidence for the clonal hematopoietic cell origin of alveolar macrophages in myelodysplastic syndrome-associated pulmonary alveolar proteinosis. ( 28849334 )
2017
28
TALEN-mediated functional correction of human iPSC-derived macrophages in context of hereditary pulmonary alveolar proteinosis. ( 29123113 )
2017
29
Herpes Simplex Virus, Cytomegalovirus, and Pneumocystis jiroveci Pneumonia in a Treatment-Naive HIV-Positive Patient with Pulmonary Alveolar Proteinosis: Case Report. ( 28393663 )
2017
30
Serum KL-6 in pulmonary alveolar proteinosis: China compared historically with Germany and Japan. ( 28275476 )
2017
31
A newly identified novel variant in theA CSF2RA gene in aA child with pulmonary alveolar proteinosis: a case report. ( 28464852 )
2017
32
Secondary pulmonary alveolar proteinosis after lung transplantation: aA single-centre series. ( 28232408 )
2017
33
Quantitative assessment of Pulmonary Alveolar Proteinosis (PAP) with ultra-dose CT and correlation with Pulmonary Function Tests (PFTs). ( 28301535 )
2017
34
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. ( 29185156 )
2017
35
Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis. ( 28569052 )
2017
36
Clinical features of secondary pulmonary alveolar proteinosis associated with myelodysplastic syndrome: Two case reports. ( 29095306 )
2017
37
Insights into the Treatment of Severe Pulmonary Alveolar Proteinosis. ( 28763266 )
2017
38
Hepatic Steatosis Accompanies Pulmonary Alveolar Proteinosis. ( 28489415 )
2017
39
Inflammatory responses induce an identity crisis of alveolar macrophages leading to pulmonary alveolar proteinosis. ( 28916727 )
2017
40
Death Due to Pulmonary Alveolar Proteinosis. ( 27879496 )
2016
41
Induced sputum deposition improves diagnostic yields of pulmonary alveolar proteinosis: A clinicopathological and methodological study of 17 cases. ( 26583435 )
2016
42
Pulmonary alveolar proteinosis in a marble worker. ( 27518894 )
2016
43
A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis. ( 27396783 )
2016
44
"Crazy-paving" pattern: A characteristic presentation of pulmonary alveolar proteinosis and a review of the literature from India. ( 27186004 )
2016
45
Role of granulocyte-macrophage colony-stimulating factor in pulmonary fibrosis following pulmonary alveolar proteinosis. ( 27512562 )
2016
46
A New Scale to Assess the Severity and Prognosis of Pulmonary Alveolar Proteinosis. ( 27635117 )
2016
47
Abstract OR001: Extracorporeal Membrane Oxygenation to Support Whole Lung Lavage in A Patient with Pulmonary Alveolar Proteinosis. ( 27560787 )
2016
48
Analysis of bronchoalveolar lavage fluid in a first Romanian pulmonary alveolar proteinosis cohort. ( 27833966 )
2016
49
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
50
Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. ( 27799394 )
2016

Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6
# 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 KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 Jak-STAT signaling pathway hsa04630

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1 11.67 CCL2 CSF1 CSF2
2 11.6 CSF1 CSF2 CSF2RA
3 11.53 CCL2 CSF1 CSF2
4
Show member pathways
11.44 CSF2RA SFTPB SFTPC SFTPD
5 11.34 CCL2 CSF2 SFTPC
6 11.3 CSF2 SFTPD
7 11.22 CCL2 CSF1
8 11.19 CCL2 CSF1 CSF2
9 11.11 CSF1 CSF2 GATA2
10 11 CSF1 CSF2
11 10.92 CCL2 CSF1 CSF2
12
Show member pathways
10.89 CSF2RA SFTPB SFTPC SFTPD
13 10.7 CCL2 CSF1
14 10.59 CSF1 CSF2
15
Show member pathways
10.32 CSF2RA SFTPB SFTPC SFTPD

GO Terms for Pulmonary Alveolar Proteinosis

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

# 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 9.7 CCL2 CSF1 CSF2 CSF2RA SFTPB SFTPC
3 multivesicular body lumen GO:0097486 9.26 SFTPB SFTPC
4 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPB SFTPC SFTPD
5 lamellar body GO:0042599 8.8 SFTPB SFTPC SFTPD

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.61 CCL2 CSF2 CSF2RA
2 positive regulation of phagocytosis GO:0050766 9.4 GATA2 SFTPD
3 homeostasis of number of cells within a tissue GO:0048873 9.37 CSF1 GATA2
4 embryonic placenta development GO:0001892 9.32 CSF2 GATA2
5 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.26 CSF1 CSF2
6 macrophage chemotaxis GO:0048246 9.16 CCL2 SFTPD
7 respiratory gaseous exchange GO:0007585 9.13 SFTPB SFTPC SFTPD
8 cellular protein metabolic process GO:0044267 9.02 CSF1 CSF2RA SFTPB SFTPC SFTPD

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CCL2 CSF1 CSF2

Sources for Pulmonary Alveolar Proteinosis

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