MCID: PLM006
MIFTS: 53

Pulmonary Alveolar Proteinosis

Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 12 74 36 29 54 6 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
KEGG 36 H00217
ICD9CM 34 516.0
MeSH 43 D011649
NCIt 49 C85037
SNOMED-CT 67 10501004
ICD10 32 J84.01
UMLS 71 C0034050

Summaries for Pulmonary Alveolar Proteinosis

KEGG : 36 Pulmonary alveolar proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich in surfactant protein and its component. PAP is classified into 2 main types, congenital and acquired. The acquired form is subdivided into the autoimmune form and the secondary form. The vast majority of PAP occurs as an autoimmune PAP. In autoimmune PAP, patients generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune PAP. Congenital PAP is also known as pulmonary surfactant metabolism dysfunction (SMDP).

MalaCards based summary : Pulmonary Alveolar Proteinosis is related to hereditary pulmonary alveolar proteinosis and lipid pneumonia, and has symptoms including hemoptysis An important gene associated with Pulmonary Alveolar Proteinosis is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and testes, and related phenotypes are hematopoietic system and homeostasis/metabolism

Disease Ontology : 12 A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

Wikipedia : 74 Pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by an abnormal accumulation... 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 585)
# Related Disease Score Top Affiliating Genes
1 hereditary pulmonary alveolar proteinosis 34.9 CSF2RB CSF2RA
2 lipid pneumonia 31.0 SFTPB MUC1
3 interstitial pneumonitis, desquamative, familial 30.8 SFTPD SFTPC SFTPB MUC1
4 cryptococcosis 30.8 TNF IL10 CSF2
5 pulmonary fibrosis 30.8 SFTPD SFTPC SFTPA1 CXCL8 CCL2
6 acute interstitial pneumonia 30.7 SFTPD SFTPC SFTPB MUC1
7 respiratory distress syndrome in premature infants 30.6 SFTPC SFTPB SFTPA1
8 pulmonary tuberculosis 30.4 TNF IL6 IL10 CCL2
9 nonspecific interstitial pneumonia 30.4 SFTPD SFTPC MUC1 CCL2
10 rheumatoid arthritis interstitial lung disease 30.4 TNF SFTPD
11 mycobacterium kansasii 30.4 GATA2 CXCL8
12 graft-versus-host disease 30.3 TNF IL6 IL10
13 silicosis 30.1 TNF SFTPD IL10 CXCL8 CCL2
14 pulmonary sarcoidosis 30.1 TNF SFTPD CSF2 CCL2
15 niemann-pick disease, type c1 30.1 IL10 ABCG1 ABCA1
16 invasive aspergillosis 30.1 SFTPD IL10 CXCL8
17 post-transplant lymphoproliferative disease 30.1 TNF IL6 IL10
18 immune deficiency disease 30.1 TNF IL6 IL10 CSF2 CCL2
19 acquired immunodeficiency syndrome 30.0 TNF IL6 IL10 CSF2
20 pneumocystosis 30.0 TNF SFTPD MUC1 IL6
21 respiratory failure 30.0 TNF SFTPD SFTPC SFTPB IL6 IL10
22 vasculitis 30.0 TNF IL6 IL10 CCL2
23 temporal arteritis 30.0 TNF IL6 CCL2
24 cellulitis 29.9 TNF IL6 IL10
25 pulmonary edema 29.9 TNF IL10 CXCL8
26 autoimmune disease 29.9 TNF IL6 IL10 CXCL8 CSF2 CCL2
27 cytomegalovirus infection 29.9 TNF IL6 CXCL8 CCL2
28 encephalitis 29.9 TNF IL6 IL10 CCL2
29 idiopathic interstitial pneumonia 29.8 SFTPD SFTPC SFTPB SFTPA1 CXCL8 CCL2
30 pleurisy 29.8 TNF CXCL8 CCL2
31 myelodysplastic syndrome 29.7 TNF IL6 IL10 GATA2 CXCL8 CSF2
32 extrinsic allergic alveolitis 29.7 SFTPD IL6 IL10 CXCL8 CCL2
33 pneumoconiosis 29.7 TNF IL6 IL10 CXCL8 CCL2
34 lung squamous cell carcinoma 29.6 TNF IL6 IL10 CSF1 CCL2
35 hemophagocytic lymphohistiocytosis 29.6 TNF IL10 GATA2 CXCL8
36 septic arthritis 29.6 TNF IL6 CXCL8
37 neutropenia 29.5 TNF IL6 IL10 CXCL8 CSF2 CSF1
38 bronchiolitis obliterans 29.4 TNF SFTPD IL6 IL10 CXCL8
39 colitis 29.4 TNF IL6 IL10 CXCL8
40 cryptogenic organizing pneumonia 29.4 TNF SFTPD SFTPC MUC1 CXCL8
41 gastroesophageal reflux 29.4 TNF IL6 CXCL8 CCL2
42 toxic shock syndrome 29.4 TNF IL6 IL10 CXCL8
43 bronchitis 29.4 TNF IL6 IL10 CXCL8
44 vascular disease 29.3 TNF IL6 IL10 CCL2 ABCA1
45 mycoplasma pneumoniae pneumonia 29.3 TNF SFTPD MUC1 IL6 IL10 CSF2
46 pulmonary hypertension 29.3 TNF SFTPC IL6 IL10 CXCL8 CCL2
47 bronchiolitis 29.3 TNF SFTPD IL6 IL10 CXCL8 CCL2
48 ulcerative colitis 29.3 TNF IL6 IL10 CXCL8
49 newborn respiratory distress syndrome 29.3 SFTPD SFTPC SFTPB SFTPA1 IL6 CXCL8
50 candidiasis 29.2 TNF IL6 IL10 CXCL8 CSF2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 ABCA1 ABCG1 CSF1 CSF2 CSF2RB GATA2
2 homeostasis/metabolism MP:0005376 10.07 ABCA1 ABCG1 CSF1 CSF2 CSF2RB GATA2
3 immune system MP:0005387 9.97 ABCA1 ABCG1 CCL2 CSF1 CSF2 CSF2RB
4 liver/biliary system MP:0005370 9.56 ABCA1 ABCG1 CSF1 GATA2 IL10 IL6
5 respiratory system MP:0005388 9.4 ABCA1 ABCG1 CSF1 CSF2 CSF2RB IL10

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 33)
# 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
Methylcobalamin Approved, Investigational Phase 1, Phase 2 13422-55-4
4
Hydroxocobalamin Approved Phase 1, Phase 2 13422-51-0 15589840 11953898
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
6
Cyanocobalamin Approved, Nutraceutical Phase 1, Phase 2 68-19-9 44176380
7
Methionine Approved, Nutraceutical Phase 1, Phase 2 63-68-3 6137
8
Cobalamin Experimental Phase 1, Phase 2 13408-78-1 6857388
9 Immunoglobulins Phase 2
10 Antibodies Phase 2
11 Trace Elements Phase 1, Phase 2
12 Micronutrients Phase 1, Phase 2
13 Vitamins Phase 1, Phase 2
14 Vitamin B Complex Phase 1, Phase 2
15 Hematinics Phase 1, Phase 2
16 Vitamin B 12 Phase 1, Phase 2
17 Nutrients Phase 1, Phase 2
18 Folate Phase 1, Phase 2
19 Liver Extracts Phase 1, Phase 2
20 Vitamin B12 Phase 1, Phase 2
21 Vitamin B9 Phase 1, Phase 2
22
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
23
Sargramostim Approved, Investigational Phase 1 83869-56-1, 123774-72-1
24
rituximab Approved Phase 1 174722-31-7 10201696
25 Molgramostim Investigational Phase 1 99283-10-0
26 Hypoglycemic Agents Phase 1
27 Immunologic Factors Phase 1
28 Antirheumatic Agents Phase 1
29 Antineoplastic Agents, Immunological Phase 1
30 Autoantibodies Phase 1
31
Nicotine Approved 54-11-5 942 89594
32 Pulmonary Surfactants
33 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Whole Lung Lavage Followed by Inhaled Sargramostim in the Treatment of Autoimmune Pulmonary Alveolar Proteinosis Unknown status NCT00901511 Phase 2, Phase 3 GM-CSF [Leukine (Sargramostim)]
2 A Randomised, Double-Blind, Placebo-Controlled Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary AlveoLAr Proteinosis Patients "IMPALA" Completed NCT02702180 Phase 2, Phase 3 molgramostim;placebo
3 An Open-label, Non-controlled, Multicentre Clinical Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Patients Enrolling by invitation NCT03482752 Phase 3 Molgramostim
4 Prospective Open-Label Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2 rituximab
5 Study of Subcutaneous Injection of Low-dose Recombinant Granulocyte Macrophage-Colony Stimulating Factor (rhGM-CSF) +/- Whole Lung Lavage(WLL) in Pulmonary Alveolar Proteinosis. Unknown status NCT01983657 Phase 2 rhGM-CSF
6 A Prospective Study of Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Mild-to-moderate Autoimmune Pulmonary Alveolar Proteinosis in China: a Randomized Open-label Study Unknown status NCT02243228 Phase 2 GM-CSF
7 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Completed NCT02835742 Phase 2 Sargramostim;Placebo
8 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine
9 A Multicenter Clinical Study of the Sequential Therapy With Whole Lung Lavage/Inhaling Granulocyte-macrophage Colony Stimulating Factor in Adult Patients With Severe Autoimmune Pulmonary Alveolar Proteinosis in China Recruiting NCT03316651 Phase 2 GM-CSF
10 Oral or Enteral Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene. Not yet recruiting NCT03887169 Phase 1, Phase 2 Methionine;Vitamin B12, B9, B6, C supplementation
11 Trial of GM-CSF for Alveolar Proteinosis Terminated NCT00030056 Phase 2 GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
12 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1 Sargramostim
13 A Randomized, Double-Blind, Placebo-Controlled, Single-Centre, Single Ascending Dose and Multiple Ascending Dose Study of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Molgramostim When Administered by Inhalation to Healthy Adult Subjects Completed NCT02468908 Phase 1 Molgramostim;Placebo
14 First in Human Study of Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Completed NCT03231033 Phase 1 Pioglitazone
15 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03006146 Phase 1 Sargramostim
16 Rituximab (Anti-CD20) for the Treatment of Subjects With Anticytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab
17 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Completed NCT02081092
18 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
19 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
20 The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03531996
21 Orphans Unite: chILD Better Together - European Management Platform for Childhood Interstitial Lung Diseases / chILD-EU - International Register and Biobank for Children´s Interstital Lung Disease Recruiting NCT02852928
22 The Natural History of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
23 Use of cSVF For Residual Lung Damage (COPD/Fibrotic Lung Disease After Symptomatic COVID-19 Infection For Residual Pulmonary Injury or Post-Adult Respiratory Distress Syndrome Following Viral (SARS-Co-2) Infection Enrolling by invitation NCT04326036 Early Phase 1 Liberase Enzyme (Roche);Sterile Normal Saline for Intravenous Use

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 29

Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

40
Lung, Myeloid, Testes, Brain, Liver, Monocytes, Bone

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 1459)
# Title Authors PMID Year
1
Targeted PPAR{gamma} deficiency in alveolar macrophages disrupts surfactant catabolism. 54 61
20064973 2010
2
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 61 54
20040766 2010
3
[Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. 61 54
20005435 2009
4
Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction. 54 61
19666756 2009
5
Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. 61 54
19282464 2009
6
Quantitative analysis of longitudinal response to aerosolized granulocyte-macrophage colony-stimulating factor in two adolescents with autoimmune pulmonary alveolar proteinosis. 54 61
19265094 2009
7
Clinical importance of bronchoalveolar lavage fluid and blood cytokines, surfactant protein D, and Kerbs von Lungren 6 antigen in idiopathic pulmonary alveolar proteinosis. 61 54
19046553 2008
8
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. 54 61
18955570 2008
9
A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis. 54 61
18618617 2008
10
Serum surfactant protein-A, but not surfactant protein-D or KL-6, can predict preclinical lung damage induced by smoking. 54 61
18595202 2008
11
Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. 61 54
18202348 2008
12
Differences in the immunolocalization of surfactant protein (SP)-A, SP-D, and KL-6 in pulmonary alveolar proteinosis. 61 54
18251786 2008
13
Aberrant processing forms of lung surfactant proteins SP-B and SP-C revealed by high-resolution mass spectrometry. 61 54
19136726 2008
14
GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. 54 61
17287477 2007
15
Molecular dynamics of surfactant protein C: from single molecule to heptameric aggregates. 61 54
16443648 2006
16
Serum antibody against granulocyte/macrophage colony-stimulating factor and KL-6 in idiopathic pulmonary alveolar proteinosis. 61 54
16565598 2006
17
Aerosol granulocyte-macrophage colony-stimulating factor for pulmonary alveolar proteinosis. 61 54
16507860 2006
18
Elevated gelatinase activity in pulmonary alveolar proteinosis: role of macrophage-colony stimulating factor. 54 61
16275889 2006
19
Granulocyte-macrophage colony-stimulating factor inhalation therapy for patients with idiopathic pulmonary alveolar proteinosis: a pilot study; and long-term treatment with aerosolized granulocyte-macrophage colony-stimulating factor: a case report. 54 61
16423274 2006
20
Pulmonary surfactant proteins A and D: innate immune functions and biomarkers for lung diseases. 61 54
16472150 2006
21
Why does the autoantibody against granulocyte-macrophage colony-stimulating factor cause lesions only in the lung? 61 54
16423275 2006
22
[The pulmonary expression of granulocyte-macrophage colony-stimulating factor and surfactant protein in adult idiopathic pulmonary alveolar proteinosis]. 61 54
16316563 2005
23
Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. 61 54
16042774 2005
24
Granulocyte-macrophage colony-stimulating factor and lung immunity in pulmonary alveolar proteinosis. 61 54
15735059 2005
25
Elevated monocyte chemotactic proteins 1, 2, and 3 in pulmonary alveolar proteinosis are associated with chemokine receptor suppression. 54 61
15596412 2005
26
[Autoantibody against granulocyte-macrophage colony-stimulating factor and other serum markers in pulmonary alveolar proteinosis]. 61 54
15730782 2004
27
Surfactant proteins in pulmonary alveolar proteinosis in adults. 61 54
15358702 2004
28
High resolution mass spectrometric alveolar proteomics: identification of surfactant protein SP-A and SP-D modifications in proteinosis and cystic fibrosis patients. 61 54
15274124 2004
29
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 54 61
15039969 2004
30
High-affinity autoantibodies specifically eliminate granulocyte-macrophage colony-stimulating factor activity in the lungs of patients with idiopathic pulmonary alveolar proteinosis. 54 61
14512323 2004
31
Autoantibodies against granulocyte macrophage colony-stimulating factor are diagnostic for pulmonary alveolar proteinosis. 61 54
12356582 2002
32
Analysis of the GM-CSF and GM-CSF/IL-3/IL-5 receptor common beta chain in a patient with pulmonary alveolar proteinosis. 61 54
11930665 2002
33
Change in cytokeratin 19 fragment level according to the severity of pulmonary alveolar proteinosis. 54 61
11688827 2001
34
The palmitoyl groups of lung surfactant protein C reduce unfolding into a fibrillogenic intermediate. 61 54
11453699 2001
35
[Expression of GM-CSF in patients with pulmonary alveolar proteinosis]. 54 61
11802999 2001
36
T-cadherin (CDH13, H-cadherin) expression downregulated surfactant protein D in bronchioloalveolar cells. 61 54
11355171 2001
37
Serological diagnosis of idiopathic pulmonary alveolar proteinosis. 61 54
10934102 2000
38
Exogenous granulocyte-macrophage colony-stimulating factor administration for pulmonary alveolar proteinosis. 54 61
10764303 2000
39
Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. 61 54
10764326 2000
40
Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. 61 54
10499925 1999
41
Elevated bronchoalveolar concentrations of MCP-1 in patients with pulmonary alveolar proteinosis. 61 54
10515418 1999
42
Pulmonary surfactant in health and human lung diseases: state of the art. 61 54
10445627 1999
43
Aerosolized GM-CSF ameliorates pulmonary alveolar proteinosis in GM-CSF-deficient mice. 54 61
10198353 1999
44
Lungs of patients with idiopathic pulmonary alveolar proteinosis express a factor which neutralizes granulocyte-macrophage colony stimulating factor. 54 61
9929010 1999
45
[Significance of serum surfactant protein-D (SP-D) level in patients with pulmonary tuberculosis]. 54 61
9844346 1998
46
Attenuated hematopoietic response to granulocyte-macrophage colony-stimulating factor in patients with acquired pulmonary alveolar proteinosis. 61 54
9763547 1998
47
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). 61 54
9793979 1998
48
Defective expression of granulocyte-macrophage colony-stimulating factor/interleukin-3/interleukin-5 receptor common beta chain in children with acute myeloid leukemia associated with respiratory failure. 61 54
9694696 1998
49
The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. 61 54
8676086 1996
50
Pulmonary surfactant protein D in sera and bronchoalveolar lavage fluids. 61 54
8520747 1995

Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MARS1 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val)SNV Pathogenic 189365 rs756021768 12:57906594-57906594 12:57512811-57512811
2 SFTPC NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe)SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694
3 DES NM_001927.4(DES):c.407T>A (p.Leu136His)SNV Uncertain significance 44261 rs397516695 2:220283591-220283591 2:219418869-219418869
4 MARS1 NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)SNV Uncertain significance 242615 rs141340466 12:57894189-57894189 12:57500406-57500406
5 MARS1 NM_004990.4(MARS1):c.1700C>T (p.Ser567Leu)SNV no interpretation for the single variant 242614 rs143592405 12:57906083-57906083 12:57512300-57512300

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 top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 TNF MUC1 IL6 IL10 CXCL8 CSF2RB
2
Show member pathways
13.85 TNF MUC1 IL6 IL10 CXCL8 CSF2RB
3
Show member pathways
13.69 TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
4
Show member pathways
13.44 TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
5
Show member pathways
13.36 TNF MUC1 IL6 IL10 CXCL8 CSF2RB
6
Show member pathways
13.33 TNF IL6 IL10 CXCL8 CSF2RB CSF2RA
7
Show member pathways
13.06 TNF SFTPD IL6 IL10 CXCL8 CCL2
8 12.84 SPI1 IL6 CXCL8 CSF2RB CSF2RA
9 12.61 TNF SPI1 IL10 GATA2 CSF2RB CCL2
10
Show member pathways
12.48 IL6 IL10 CSF2RB CSF2RA CSF2
11
Show member pathways
12.39 TNF IL6 CXCL8 CSF2 CCL2
12
Show member pathways
12.39 TNF IL6 CSF1 CCL2 ABCA1
13
Show member pathways
12.37 TNF IL6 IL10 CXCL8 CSF1 CCL2
14 12.34 TNF SPI1 IL6 CSF2
15
Show member pathways
12.31 TNF SPI1 IL6 CXCL8
16 12.28 SPI1 IL6 CXCL8 CSF2
17 12.25 TNF IL6 CXCL8 CCL2
18 12.23 TNF IL6 IL10 GATA2 CXCL8
19
Show member pathways
12.22 TNF SFTPD SFTPA1 MUC1 IL6 CXCL8
20 12.07 TNF IL6 IL10 CXCL8 CCL2
21 12.05 TNF IL6 CXCL8 CCL2
22 12.03 TNF IL6 CSF2 CSF1 CCL2
23 12.02 TNF IL6 IL10 CSF2 CSF1 CEACAM3
24 11.99 TNF MUC1 IL6 IL10 CXCL8 CCL2
25 11.98 TNF IL6 IL10 CXCL8 CSF2
26 11.96 TNF IL6 CXCL8 CCL2
27 11.96 TNF IL6 CSF2RA CSF2 CSF1
28 11.88 TNF IL6 CXCL8 CSF2 CSF1 CCL2
29 11.87 SPI1 IL6 CXCL8 CSF2
30
Show member pathways
11.85 SFTPD SFTPC SFTPB SFTPA1 CSF2RB CSF2RA
31 11.82 TNF SFTPA1 IL6 IL10 CXCL8
32 11.79 TNF SPI1 IL10
33
Show member pathways
11.76 TNF CXCL8 CSF2
34
Show member pathways
11.73 TNF IL6 CXCL8 CSF2
35 11.67 TNF SPI1 IL6 IL10 CSF2 CSF1
36 11.62 TNF IL6 CXCL8
37 11.61 SPI1 SFTPD CSF2
38 11.61 TNF IL6 IL10 CXCL8 CCL2
39 11.58 TNF CSF2RB CSF1 CCL2
40 11.57 SPI1 IL6 GATA2 CSF2 CSF1
41 11.5 TNF SFTPC SFTPA1 IL6 CXCL8 CSF2
42 11.42 TNF IL6 IL10
43
Show member pathways
11.41 TNF IL10 CSF2
44 11.39 TNF IL6 IL10
45 11.38 IL6 CXCL8 CCL2
46
Show member pathways
11.37 SFTPD SFTPC SFTPB SFTPA1 CSF2RB CSF2RA
47 11.23 TNF IL6 IL10 CSF2 CSF1
48 11.1 TNF IL6 CXCL8
49 11.06 TNF IL6 IL10 CXCL8 CSF2 CSF1
50 11.02 TNF CSF1 CCL2

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 region GO:0005576 9.77 TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
2 multivesicular body GO:0005771 9.5 SFTPD SFTPB SFTPA1
3 clathrin-coated endocytic vesicle GO:0045334 9.46 SFTPD SFTPC SFTPB SFTPA1
4 lamellar body GO:0042599 9.43 SFTPC SFTPB SFTPA1
5 multivesicular body lumen GO:0097486 9.4 SFTPC SFTPB
6 extracellular space GO:0005615 9.4 TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
7 alveolar lamellar body GO:0097208 9.37 SFTPC SFTPB

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.01 TNF IL6 GATA2 CSF2 CSF1
2 inflammatory response GO:0006954 9.97 TNF IL6 CXCL8 CSF1 CCL2
3 immune response GO:0006955 9.91 TNF IL6 IL10 CXCL8 CSF2 CCL2
4 MAPK cascade GO:0000165 9.85 TNF CSF2RB CSF2RA CSF2 CCL2
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 TNF IL6 CSF2
6 response to glucocorticoid GO:0051384 9.77 TNF IL6 IL10
7 humoral immune response GO:0006959 9.75 TNF IL6 CCL2
8 negative regulation of fat cell differentiation GO:0045599 9.71 TNF IL6 GATA2
9 cellular response to lipopolysaccharide GO:0071222 9.7 TNF IL6 IL10 CXCL8 CSF2 CCL2
10 positive regulation of phagocytosis GO:0050766 9.69 TNF SFTPD GATA2
11 positive regulation of neuroinflammatory response GO:0150078 9.65 TNF IL6
12 positive regulation of JAK-STAT cascade GO:0046427 9.65 TNF IL6 IL10
13 respiratory gaseous exchange GO:0007585 9.65 SFTPD SFTPC SFTPB SFTPA1 CSF2RB
14 positive regulation of podosome assembly GO:0071803 9.64 TNF CSF2
15 phospholipid homeostasis GO:0055091 9.64 ABCG1 ABCA1
16 PERK-mediated unfolded protein response GO:0036499 9.63 CXCL8 CCL2
17 phospholipid efflux GO:0033700 9.63 ABCG1 ABCA1
18 intracellular cholesterol transport GO:0032367 9.62 ABCG1 ABCA1
19 response to molecule of bacterial origin GO:0002237 9.62 IL10 CXCL8
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.62 TNF SPI1 IL10 GATA2
21 negative regulation of cholesterol storage GO:0010887 9.61 ABCG1 ABCA1
22 endothelial cell apoptotic process GO:0072577 9.58 TNF IL10
23 macrophage differentiation GO:0030225 9.58 SPI1 CSF2 CSF1
24 negative regulation of MHC class II biosynthetic process GO:0045347 9.56 SPI1 IL10
25 cellular protein metabolic process GO:0044267 9.56 SFTPD SFTPC SFTPB SFTPA1 IL6 CSF2RB
26 negative regulation of cytokine production involved in immune response GO:0002719 9.55 TNF IL10
27 negative regulation of lipid storage GO:0010888 9.54 TNF IL6 ABCG1
28 negative regulation of cytokine secretion involved in immune response GO:0002740 9.52 TNF IL10
29 receptor biosynthetic process GO:0032800 9.49 TNF IL10
30 cytokine-mediated signaling pathway GO:0019221 9.32 TNF MUC1 IL6 IL10 CXCL8 CSF2RB

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 IL6 IL10 CSF2 CSF1
2 cytokine activity GO:0005125 9.17 TNF IL6 IL10 CXCL8 CSF2 CSF1
3 phosphatidylcholine-translocating ATPase activity GO:0090554 9.16 ABCG1 ABCA1

Sources for Pulmonary Alveolar Proteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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