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 44 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
KEGG 36 H00217
ICD9CM 34 516.0
MeSH 44 D011649
NCIt 50 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 surfactant metabolism dysfunction, pulmonary, 1 and hereditary pulmonary alveolar proteinosis, 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 Sargramostim and Molgramostim have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and liver, and related phenotypes are hematopoietic system and immune system

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 626)
# Related Disease Score Top Affiliating Genes
1 surfactant metabolism dysfunction, pulmonary, 1 33.1 SFTPC SFTPB
2 hereditary pulmonary alveolar proteinosis 32.9 CSF2RB CSF2RA
3 lipid pneumonia 30.9 SFTPC SFTPB MUC1
4 pulmonary fibrosis 30.7 SFTPD SFTPC SFTPA1 CXCL8 CCL2
5 interstitial pneumonitis, desquamative, familial 30.7 SFTPD SFTPC SFTPB MUC1
6 cryptococcosis 30.7 TNF IL10 CSF2
7 respiratory distress syndrome in premature infants 30.4 SFTPC SFTPB SFTPA1
8 pulmonary tuberculosis 30.4 TNF IL6 IL10 CCL2
9 newborn respiratory distress syndrome 30.3 SFTPD SFTPC SFTPB SFTPA1
10 nonspecific interstitial pneumonia 30.2 SFTPD SFTPC MUC1 CCL2
11 graft-versus-host disease 30.2 TNF IL6 IL10
12 mycobacterium kansasii 30.1 GATA2 CXCL8
13 rheumatoid arthritis interstitial lung disease 30.1 TNF SFTPD MUC1
14 silicosis 30.0 TNF SFTPD IL10 CXCL8 CCL2
15 niemann-pick disease, type c1 30.0 IL10 ABCG1 ABCA1
16 pulmonary sarcoidosis 30.0 TNF SFTPD CSF2 CCL2
17 disease by infectious agent 30.0 TNF SFTPD IL6 IL10
18 cellulitis 30.0 TNF IL6 CSF2
19 acquired immunodeficiency syndrome 30.0 TNF IL6 IL10 CSF2
20 pneumocystosis 29.9 TNF SFTPD MUC1 IL6
21 post-transplant lymphoproliferative disease 29.9 TNF IL6 IL10
22 invasive aspergillosis 29.9 SFTPD IL10 CXCL8
23 respiratory failure 29.9 TNF SFTPD SFTPC SFTPB IL6 IL10
24 autoimmune disease 29.9 TNF IL6 IL10 CXCL8 CSF2 CCL2
25 temporal arteritis 29.9 TNF IL6 CCL2
26 anthracosis 29.9 TNF IL6 CXCL8 CCL2
27 pulmonary edema 29.8 TNF IL10 CXCL8
28 immune deficiency disease 29.8 TNF IL6 IL10 CSF2 CSF1 CCL2
29 myelodysplastic syndrome 29.8 TNF IL6 IL10 GATA2 CXCL8 CSF2
30 extrinsic allergic alveolitis 29.8 SFTPD IL6 IL10 CXCL8 CCL2
31 encephalitis 29.8 TNF IL6 IL10 CCL2
32 idiopathic interstitial pneumonia 29.7 SFTPD SFTPC SFTPB SFTPA1 CXCL8 CCL2
33 end stage renal disease 29.7 TNF IL6 IL10 CCL2
34 pleurisy 29.6 TNF CXCL8 CCL2
35 pneumoconiosis 29.6 TNF IL6 IL10 CXCL8 CCL2
36 neutropenia 29.4 TNF IL6 IL10 CXCL8 CSF2 CSF1
37 bronchiolitis obliterans 29.3 TNF SFTPD IL6 IL10 CXCL8
38 mycoplasma pneumoniae pneumonia 29.3 TNF SFTPD MUC1 IL6 IL10 CSF2
39 acute interstitial pneumonia 29.3 TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
40 vascular disease 29.3 TNF IL6 IL10 CCL2 ABCA1
41 lung disease 29.3 TNF SFTPD SFTPC SFTPB SFTPA1 MUC1
42 cryptogenic organizing pneumonia 29.3 TNF SFTPD SFTPC MUC1 CXCL8
43 leukemia, acute myeloid 29.3 TNF SPI1 IL6 IL10 GATA2 CXCL8
44 hemophagocytic lymphohistiocytosis 29.3 TNF IL10 GATA2 CXCL8 CCL2
45 gastroesophageal reflux 29.3 TNF IL6 CXCL8 CCL2
46 toxic shock syndrome 29.3 TNF IL6 IL10 CXCL8
47 bronchitis 29.2 TNF IL6 IL10 CXCL8
48 ulcerative colitis 29.2 TNF IL6 IL10 CXCL8
49 interstitial lung disease 29.1 TNF SFTPD SFTPC SFTPB MUC1 IL6
50 candidiasis 29.1 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 ABCA1 ABCG1 CSF1 CSF2 CSF2RB GATA2
2 immune system MP:0005387 9.97 ABCA1 ABCG1 CCL2 CSF1 CSF2 CSF2RB
3 liver/biliary system MP:0005370 9.56 ABCA1 ABCG1 CSF1 GATA2 IL10 IL6
4 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
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2 Molgramostim Investigational Phase 3 99283-10-0
3 Autoantibodies Phase 2, Phase 3
4 Antibiotics, Antitubercular Phase 2, Phase 3
5 Anti-Bacterial Agents Phase 2, Phase 3
6 Immunologic Factors Phase 3
7 Pharmaceutical Solutions Phase 3
8
Methylcobalamin Approved, Investigational Phase 1, Phase 2 13422-55-4
9
Hydroxocobalamin Approved Phase 1, Phase 2 13422-51-0 11953898 15589840
10
Methionine Approved, Nutraceutical Phase 1, Phase 2 63-68-3 6137
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
12
Cyanocobalamin Approved, Nutraceutical Phase 1, Phase 2 68-19-9 44176380
13
Cobalamin Experimental Phase 1, Phase 2 13408-78-1 6857388
14 Immunoglobulins Phase 2
15 Antibodies Phase 2
16 Vitamin B Complex Phase 1, Phase 2
17 Micronutrients Phase 1, Phase 2
18 Liver Extracts Phase 1, Phase 2
19 Hematinics Phase 1, Phase 2
20 Vitamin B 12 Phase 1, Phase 2
21 Trace Elements Phase 1, Phase 2
22 Vitamin B12 Phase 1, Phase 2
23 Vitamins Phase 1, Phase 2
24 Folate Phase 1, Phase 2
25 Vitamin B9 Phase 1, Phase 2
26 Nutrients Phase 1, Phase 2
27
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
28
rituximab Approved Phase 1 174722-31-7 10201696
29 Hypoglycemic Agents Phase 1
30 Antineoplastic Agents, Immunological Phase 1
31 Antirheumatic Agents Phase 1
32
Nicotine Approved 54-11-5 942 89594
33 Pulmonary Surfactants

Interventional clinical trials:

(show all 24)
# 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 Completed NCT03482752 Phase 3 Molgramostim
4 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Once-daily Inhaled Molgramostim Nebulizer Solution in Adult Subjects With Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Not yet recruiting NCT04544293 Phase 3 Molgramostim;Placebo
5 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 Unknown status NCT03316651 Phase 2 GM-CSF
6 Prospective Open-Label Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2 rituximab
7 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
8 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
9 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine
10 Oral or Enteral Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene. Completed NCT03887169 Phase 1, Phase 2 Methionine;Vitamin B12, B9, B6, C supplementation
11 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Completed NCT02835742 Phase 2 Sargramostim;Placebo
12 Trial of GM-CSF for Alveolar Proteinosis Terminated NCT00030056 Phase 2 GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
13 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1 Sargramostim
14 First in Human Study of Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Completed NCT03231033 Phase 1 Pioglitazone
15 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
16 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03006146 Phase 1 Sargramostim
17 Rituximab (Anti-CD20) for the Treatment of Subjects With Anticytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab
18 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Completed NCT02081092
19 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
20 Shanghai Pulmonary Hospital Recruiting NCT04516577
21 The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03531996
22 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 Recruiting NCT04326036 Early Phase 1 Liberase Enzyme (Roche);Sterile Normal Saline for Intravenous Use
23 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
24 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

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, Liver, Bone Marrow, Monocytes, Kidney, Thyroid

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 1495)
# 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. 54 61
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. 61 54
19666756 2009
5
Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. 54 61
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. 54 61
19046553 2008
8
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. 61 54
18955570 2008
9
A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis. 61 54
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. 54 61
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. 61 54
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
Why does the autoantibody against granulocyte-macrophage colony-stimulating factor cause lesions only in the lung? 54 61
16423275 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. 61 54
16423274 2006
20
Pulmonary surfactant proteins A and D: innate immune functions and biomarkers for lung diseases. 54 61
16472150 2006
21
Elevated gelatinase activity in pulmonary alveolar proteinosis: role of macrophage-colony stimulating factor. 54 61
16275889 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. 54 61
16042774 2005
24
Granulocyte-macrophage colony-stimulating factor and lung immunity in pulmonary alveolar proteinosis. 54 61
15735059 2005
25
Elevated monocyte chemotactic proteins 1, 2, and 3 in pulmonary alveolar proteinosis are associated with chemokine receptor suppression. 61 54
15596412 2005
26
[Autoantibody against granulocyte-macrophage colony-stimulating factor and other serum markers in pulmonary alveolar proteinosis]. 54 61
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. 61 54
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
[Expression of GM-CSF in patients with pulmonary alveolar proteinosis]. 54 61
11802999 2001
35
The palmitoyl groups of lung surfactant protein C reduce unfolding into a fibrillogenic intermediate. 54 61
11453699 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. 54 61
10934102 2000
38
Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. 61 54
10764326 2000
39
Exogenous granulocyte-macrophage colony-stimulating factor administration for pulmonary alveolar proteinosis. 61 54
10764303 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. 61 54
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]. 61 54
9844346 1998
46
Attenuated hematopoietic response to granulocyte-macrophage colony-stimulating factor in patients with acquired pulmonary alveolar proteinosis. 54 61
9763547 1998
47
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). 54 61
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.1177G>A (p.Ala393Thr) SNV Pathogenic 189364 rs141340466 12:57894189-57894189 12:57500406-57500406
2 MARS1 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) SNV Pathogenic 189365 rs756021768 12:57906594-57906594 12:57512811-57512811
3 MARS1 NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) SNV Pathogenic 189364 rs141340466 12:57894189-57894189 12:57500406-57500406
4 SFTPC NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694
5 DES NM_001927.4(DES):c.407T>A (p.Leu136His) SNV Uncertain significance 44261 rs397516695 2:220283591-220283591 2:219418869-219418869

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 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.05 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
13.45 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
13.07 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
12.47 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 12.35 TNF SPI1 IL6 CSF2
15
Show member pathways
12.32 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 12.13 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 11.97 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
11.77 TNF IL6 IL10
34
Show member pathways
11.76 TNF CXCL8 CSF2
35 11.76 TNF SPI1 IL6 IL10
36
Show member pathways
11.73 TNF IL6 CXCL8 CSF2
37 11.67 TNF SPI1 IL6 IL10 CSF2 CSF1
38 11.63 TNF IL6 CXCL8
39 11.62 SPI1 SFTPD CSF2
40 11.61 TNF IL6 IL10 CXCL8 CCL2
41 11.57 TNF CSF2RB CSF1 CCL2
42 11.57 SPI1 IL6 GATA2 CSF2 CSF1
43 11.5 TNF SFTPC SFTPA1 IL6 CXCL8 CSF2
44 11.43 TNF IL6 IL10
45
Show member pathways
11.41 TNF IL10 CSF2
46 11.4 TNF IL6 IL10
47 11.38 IL6 CXCL8 CCL2
48
Show member pathways
11.37 SFTPD SFTPC SFTPB SFTPA1 CSF2RB CSF2RA
49 11.23 TNF IL6 IL10 CSF2 CSF1
50 11.11 TNF IL6 CXCL8

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 26)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.95 TNF IL6 CXCL8 CSF1 CCL2
2 positive regulation of gene expression GO:0010628 9.91 TNF IL6 GATA2 CXCL8 CSF2 CSF1
3 immune response GO:0006955 9.88 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 9.76 TNF IL6 IL10
7 humoral immune response GO:0006959 9.73 TNF IL6 CCL2
8 cellular response to lipopolysaccharide GO:0071222 9.7 TNF IL6 IL10 CXCL8 CSF2 CCL2
9 negative regulation of fat cell differentiation GO:0045599 9.69 TNF IL6 GATA2
10 positive regulation of phagocytosis GO:0050766 9.67 TNF SFTPD GATA2
11 positive regulation of JAK-STAT cascade GO:0046427 9.65 TNF IL6 IL10
12 respiratory gaseous exchange GO:0007585 9.65 SFTPD SFTPC SFTPB SFTPA1 CSF2RB
13 positive regulation of neuroinflammatory response GO:0150078 9.63 TNF IL6
14 phospholipid efflux GO:0033700 9.62 ABCG1 ABCA1
15 positive regulation of podosome assembly GO:0071803 9.62 TNF CSF2
16 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.62 TNF SPI1 IL10 GATA2
17 response to molecule of bacterial origin GO:0002237 9.61 IL10 CXCL8
18 negative regulation of cholesterol storage GO:0010887 9.61 ABCG1 ABCA1
19 negative regulation of lipid storage GO:0010888 9.59 TNF IL6
20 endothelial cell apoptotic process GO:0072577 9.58 TNF IL10
21 vascular endothelial growth factor production GO:0010573 9.57 TNF IL6
22 cellular protein metabolic process GO:0044267 9.56 SFTPD SFTPC SFTPB SFTPA1 IL6 CSF2RB
23 negative regulation of MHC class II biosynthetic process GO:0045347 9.54 SPI1 IL10
24 macrophage differentiation GO:0030225 9.54 SPI1 CSF2 CSF1
25 negative regulation of cytokine production involved in immune response GO:0002719 9.52 TNF IL10
26 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 protein binding GO:0005515 10.23 TNF SPI1 SFTPD SFTPC SFTPB SFTPA1
2 growth factor activity GO:0008083 9.26 IL6 IL10 CSF2 CSF1
3 cytokine activity GO:0005125 9.17 TNF IL6 IL10 CXCL8 CSF2 CSF1
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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