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MCID: PLM006
MIFTS: 50

Pulmonary Alveolar Proteinosis

Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pulmonary Alveolar Proteinosis

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MalaCards integrated aliases for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 12 76 37 29 55 6 44 15 73

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Respiratory diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:12120
ICD10 33 J84.01
ICD9CM 35 516.0
MeSH 44 D011649
NCIt 50 C85037
SNOMED-CT 68 10501004
KEGG 37 H00217
UMLS 73 C0034050
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Summaries for Pulmonary Alveolar Proteinosis

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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 hereditary pulmonary alveolar proteinosis and respiratory failure, 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 Metabolism of proteins and Akt Signaling. The drugs Molgramostim and Pulmonary Surfactants have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and myeloid, and related phenotype is respiratory system.

Wikipedia : 76 Pulmonary alveolar proteinosis (PAP) is a group of rare lung disorders characterized by abnormal... more...

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Related Diseases for Pulmonary Alveolar Proteinosis

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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 123)
# Related Disease Score Top Affiliating Genes
1 hereditary pulmonary alveolar proteinosis 33.8 CSF2RA CSF2RB
2 respiratory failure 30.7 SFTPB SFTPC SFTPD
3 pneumonia 30.6 CCL2 SFTPB SFTPC SFTPD
4 pulmonary fibrosis 30.5 CCL2 SFTPC SFTPD
5 silicosis 30.1 CCL2 SFTPD
6 arthritis 30.1 CCL2 CSF1 CSF2
7 pulmonary fibrosis, idiopathic 30.0 CCL2 SFTPB SFTPC SFTPD
8 aspergillosis 30.0 CSF2 SFTPD
9 lung disease 29.9 CCL2 CSF2 SFTPB SFTPC SFTPD
10 idiopathic interstitial pneumonia 29.8 CCL2 SFTPC SFTPD
11 interstitial lung disease 29.7 CCL2 SFTPB SFTPC SFTPD
12 pulmonary alveolar proteinosis, acquired 13.0
13 congenital pulmonary alveolar proteinosis 12.8
14 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.7
15 secondary pulmonary alveolar proteinosis 12.6
16 surfactant metabolism dysfunction, pulmonary, 5 12.2
17 interstitial lung and liver disease 12.2
18 surfactant metabolism dysfunction, pulmonary, 1 12.0
19 surfactant metabolism dysfunction, pulmonary, 4 12.0
20 immunodeficiency 21 11.9
21 lysinuric protein intolerance 11.7
22 surfactant metabolism dysfunction, pulmonary, 2 11.5
23 surfactant metabolism dysfunction, pulmonary, 3 11.5
24 myelodysplastic syndrome 10.6
25 leukemia 10.5
26 lung cancer 10.4
27 nocardiosis 10.4
28 leukemia, chronic myeloid 10.3
29 cryptococcosis 10.3
30 myeloid leukemia 10.3
31 autoimmune disease 10.2
32 lipid pneumonia 10.2
33 neonatal respiratory failure 10.2 SFTPB SFTPC
34 surfactant dysfunction 10.2 SFTPB SFTPC
35 respiratory distress syndrome in premature infants 10.2 SFTPB SFTPC
36 systemic lupus erythematosus 10.1
37 interstitial pneumonitis, desquamative, familial 10.1
38 leukemia, acute myeloid 10.1
39 membranous nephropathy 10.1
40 niemann-pick disease 10.1
41 desquamative interstitial pneumonia 10.1
42 pneumothorax 10.1
43 squamous cell carcinoma 10.1
44 pulmonary tuberculosis 10.1
45 lung squamous cell carcinoma 10.1
46 lupus erythematosus 10.1
47 psoriasis 10.1
48 amyloidosis 10.1
49 tracheal agenesis 10.1 SFTPB SFTPD
50 diaphragm disease 10.1 SFTPB SFTPC

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



Diseases related to Pulmonary Alveolar Proteinosis
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Symptoms & Phenotypes for Pulmonary Alveolar Proteinosis

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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 respiratory system MP:0005388 9.1 CSF1 CSF2 CSF2RB SFTPB SFTPC SFTPD
Sources

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Molgramostim Investigational Phase 2, Phase 3,Phase 3,Phase 1 99283-10-0
2 Pulmonary Surfactants Phase 2, Phase 3
3 Antibiotics, Antitubercular Phase 2, Phase 3
4 Anti-Bacterial Agents Phase 2, Phase 3
5 Autoantibodies 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
leucovorin Approved Phase 2 58-05-9 6006 143
9
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11 Antirheumatic Agents Phase 2,Phase 1
12 Immunoglobulins Phase 2,Phase 1
13 Antibodies Phase 2,Phase 1
14 Immunologic Factors Phase 2,Phase 1
15 Vitamin B9 Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Dermatologic Agents Phase 2
18 Vitamin B Complex Phase 2
19 Immunosuppressive Agents Phase 2
20 Folic Acid Antagonists Phase 2
21 Antimetabolites Phase 2
22 Folate Phase 2
23 Nucleic Acid Synthesis Inhibitors Phase 2
24
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
25 Hypoglycemic Agents Phase 1
26 Antibodies, Monoclonal Phase 1
27
Nicotine Approved 54-11-5 942 89594
28
Protein C Approved
29 Respiratory System Agents

Interventional clinical trials:

(show all 24)
# 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) Active, not recruiting NCT02702180 Phase 2, Phase 3 molgramostim;placebo
3 Safety Extension Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis Enrolling by invitation NCT03482752 Phase 3 Molgramostim
4 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT02243228 Phase 2 GM-CSF
5 Prospective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis Unknown status NCT00552461 Phase 2 rituximab
6 Study of Subcutaneous Injection of Low-dose rhGM-CSF +/- WLL in PAP. Unknown status NCT01983657 Phase 2 rhGM-CSF
7 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine
8 A Study to Investigate the Efficacy and Safety of GSK3196165 in Inflammatory Hand Osteoarthritis Completed NCT02683785 Phase 1, Phase 2 GSK3196165;Placebo
9 Mechanistic Study of GSK3196165 Plus Methotrexate (MTX) in Subjects With Active Rheumatoid Arthritis Completed NCT02799472 Phase 2 GSK3196165;Placebo;MTX;Folic (or folinic) acid
10 Sequential Therapy With WLL/Inhaling GM-CSF for Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03316651 Phase 2 GM-CSF
11 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Active, not recruiting NCT02835742 Phase 2 Sargramostim;Placebo
12 GM-CSF in Patients With Pulmonary 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 Inhaled Molgramostim (rhGM-CSF) in Healthy Adult Subjects Completed NCT02468908 Phase 1 Molgramostim;Placebo
15 Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03231033 Phase 1 Pioglitazone
16 Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03006146 Phase 1 Sargramostim
17 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab/Rituxan
18 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
19 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Completed NCT02081092
20 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
21 The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03531996
22 European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank Recruiting NCT02852928
23 Natural History Study of GATA2 Deficiency and Related Disorders Recruiting NCT01905826
24 Epidemiology of Surfactant Protein-B Deficiency Recruiting NCT00014859

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis

Cochrane evidence based reviews: pulmonary alveolar proteinosis

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Genetic Tests for Pulmonary Alveolar Proteinosis

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Genetic tests related to Pulmonary Alveolar Proteinosis:

# Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis 29
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Anatomical Context for Pulmonary Alveolar Proteinosis

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MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

41
Lung, Testes, Myeloid, Brain, Heart, Monocytes, Liver
Sources

Publications for Pulmonary Alveolar Proteinosis

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Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 785)
# Title Authors Year
1
Autoimmune pulmonary alveolar proteinosis presenting peripheral ground-glass opacities. ( 30459948 )
2019
2
Pulmonary alveolar proteinosis - a crazy presentation of dyspnea. ( 30533207 )
2019
3
Pulmonary alveolar proteinosis following cryptococcal meningitis: a possible cause? ( 29592982 )
2018
4
Pleural effusion as presenting feature of pulmonary alveolar proteinosis: A rare occurrence. ( 29498798 )
2018
5
A Case of Pulmonary Alveolar Proteinosis with Ulcerative Colitis. ( 29709938 )
2018
6
Pulmonary Transplantation of Human iPSC-derived Macrophages Ameliorates Pulmonary Alveolar Proteinosis. ( 29652170 )
2018
7
Autoimmune pulmonary alveolar proteinosis in an adolescent successfully treated with inhaled rhGM-CSF (molgramostim). ( 29719809 )
2018
8
Novel application of cryobiopsy in the diagnosis of pulmonary alveolar proteinosis. ( 29938112 )
2018
9
Evolving management and patient choice in pulmonary alveolar proteinosis. ( 29580708 )
2018
10
Pulmonary Alveolar Proteinosis ( 29493933 )
2018
11
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )
2018
12
Cytopathological examination of bronchoalveolar lavage fluid in diagnosis of pulmonary alveolar proteinosis. ( 29403217 )
2018
13
Pulmonary alveolar proteinosis in adults: pathophysiology and clinical approach. ( 29397349 )
2018
14
Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity. ( 29775242 )
2018
15
New interplay between interstitial and alveolar macrophages explains pulmonary alveolar proteinosis (PAP) induced by indium tin oxide particles. ( 29484482 )
2018
16
An eleven-year retrospective cross-sectional study on pulmonary alveolar proteinosis. ( 29490416 )
2018
17
Whole-lung lavage in a patient with pulmonary alveolar proteinosis. ( 29652291 )
2018
18
Pulmonary Alveolar Proteinosis in Setting of Inhaled Toxin Exposure and Chronic Substance Abuse. ( 29607238 )
2018
19
Pulmonary alveolar proteinosis and <i>Mycobacterium abscessus</i> lung infection related to ruxolitinib after allogeneic stem cell transplantation. ( 29650554 )
2018
20
Novel method of noninvasive ventilation supported therapeutic lavage in pulmonary alveolar proteinosis proves to relieve dyspnea, normalize pulmonary function test results and recover exercise capacity: a short communication. ( 29850154 )
2018
21
Clinical significance of serum anti-GM-CSF autoantibody levels in autoimmune pulmonary alveolar proteinosis. ( 29202602 )
2018
22
Secondary pulmonary alveolar proteinosis: a single-center retrospective study (a case series and literature review). ( 29368649 )
2018
23
Secondary pulmonary alveolar proteinosis predominant in the transplanted lung in patients with idiopathic interstitial pneumonia: an autopsy case. ( 29997992 )
2018
24
Secondary pulmonary alveolar proteinosis in acute myeloid leukemia. ( 30295888 )
2018
25
Atypical pulmonary alveolar proteinosis presenting as a mixed nodular ground-glass opacity with focal mucinosis mimicking lung cancer. ( 30416819 )
2018
26
Severe Pulmonary Alveolar Proteinosis in a Young Adult. ( 29307537 )
2018
27
Peripheral alveolar nitric oxide concentration reflects alveolar inflammation in autoimmune pulmonary alveolar proteinosis. ( 29577041 )
2018
28
Manmade Macrophage Offers a New Therapy for Pulmonary Alveolar Proteinosis. ( 29669215 )
2018
29
Assay system development to measure the concentration of sargramostim with high specificity in patients with autoimmune pulmonary alveolar proteinosis after single-dose inhalation. ( 30003894 )
2018
30
Pulmonary alveolar proteinosis in children: An unusual presentation with significant clinical impact. ( 30004070 )
2018
31
Characterization and outcomes of pulmonary alveolar proteinosis in Brazil: a case series. ( 30043890 )
2018
32
The presence of autoimmune antibodies in pulmonary alveolar proteinosis does not necessarily imply idiopathic disease. ( 30057290 )
2018
33
Prevalence and healthcare burden of pulmonary alveolar proteinosis. ( 30064481 )
2018
34
Disseminated Cryptococcus gattii infection preceding onset of pulmonary alveolar proteinosis. ( 30083345 )
2018
35
Statin as a novel pharmacotherapy of pulmonary alveolar proteinosis. ( 30087322 )
2018
36
iPSC-Derived Macrophages Effectively Treat Pulmonary Alveolar Proteinosis in Csf2rb-Deficient Mice. ( 30100408 )
2018
37
Pulmonary Alveolar Proteinosis in Hereditary and Autoimmune Forms With 2 Cases. ( 30113436 )
2018
38
Better approach for autoimmune pulmonary alveolar proteinosis treatment: inhaled or subcutaneous granulocyte-macrophage colony-stimulating factor: a meta-analyses. ( 30165864 )
2018
39
Blood testing in the diagnosis of pulmonary alveolar proteinosis. ( 30484430 )
2018
40
Blood testing in the diagnosis of pulmonary alveolar proteinosis - Authors' reply. ( 30484431 )
2018
41
CT findings in pulmonary alveolar proteinosis: serial changes and prognostic implications. ( 30505485 )
2018
42
Brain abscess due to Nocardia infection in an immunocompetent patient with asymptomatic pulmonary alveolar proteinosis. ( 28718013 )
2017
43
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease. ( 29185156 )
2017
44
Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age. ( 28512724 )
2017
45
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile. ( 28212655 )
2017
46
Bilateral lung disease, extensive and diffuse. Diagnosis of pulmonary alveolar proteinosis by bronchoscopic cryobiopsy. ( 29021953 )
2017
47
Secondary pulmonary alveolar proteinosis after lung transplantation: aA single-centre series. ( 28232408 )
2017
48
Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis. ( 28569052 )
2017
49
Recurrent pulmonary alveolar proteinosis in an immunocompromised host. ( 29110133 )
2017
50
A Semiquantitative Computed Tomographic Grading System for Evaluating Therapeutic Response in Pulmonary Alveolar Proteinosis. ( 28489417 )
2017
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Variations for Pulmonary Alveolar Proteinosis

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ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh38 Chromosome 12, 57500406: 57500406
2 MARS NM_004990.3(MARS): c.1177G> A (p.Ala393Thr) single nucleotide variant no interpretation for the single variant rs141340466 GRCh37 Chromosome 12, 57894189: 57894189
3 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh38 Chromosome 12, 57512300: 57512300
4 MARS NM_004990.3(MARS): c.1700C> T (p.Ser567Leu) single nucleotide variant no interpretation for the single variant rs143592405 GRCh37 Chromosome 12, 57906083: 57906083
5 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811
6 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh37 Chromosome 12, 57906594: 57906594
Sources

Expression for Pulmonary Alveolar Proteinosis

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

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 66
Show member pathways
 13.49 CCL2 CSF2RA CSF2RB SFTPB SFTPC SFTPD
2
Akt Signaling 64
Show member pathways
 13.12 CCL2 CSF1 CSF2 CSF2RA CSF2RB
3
Cytokine Signaling in Immune system 66
Show member pathways
 13.08 CCL2 CSF1 CSF2 CSF2RA CSF2RB
4
PAK Pathway 64
Show member pathways
 13 CCL2 CSF1 CSF2 CSF2RA CSF2RB
5
NF-kappaB Signaling 4
12.3 CCL2 CSF2RB GATA2
6
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.13 CSF2 CSF2RA CSF2RB
7
G beta-gamma signalling through PI3Kgamma 66
Show member pathways
 11.88 CSF2 CSF2RA CSF2RB
8
TNF signaling pathway 37
11.69 CCL2 CSF1 CSF2
9
Hematopoietic cell lineage 37
11.62 CSF1 CSF2 CSF2RA
10
Rheumatoid arthritis 37
11.56 CCL2 CSF1 CSF2
11
Diseases of metabolism 66
Show member pathways
 11.52 CSF2RA CSF2RB SFTPB SFTPC SFTPD
12
Lung fibrosis 1
11.38 CCL2 CSF2 SFTPC
13
Regulation of retinoblastoma protein 1
11.35 CSF2 SFTPD
14
Interleukin-10 signaling 66
11.23 CCL2 CSF1 CSF2
15
Hematopoietic Stem Cell Differentiation 1
11.18 CSF1 CSF2 GATA2
16
MSP-RON Signaling 64
11.11 CCL2 CSF1 CSF2RB
17
Cytokines and Inflammatory Response 1
11.02 CSF1 CSF2
18
Surfactant metabolism 66
Show member pathways
 10.99 CSF2RA CSF2RB SFTPB SFTPC SFTPD
19
G-protein signaling_RhoB regulation pathway 22
10.95 CCL2 CSF1 CSF2
20
LDL Oxidation in Atherogenesis 64
10.71 CCL2 CSF1
21
Development of pulmonary dendritic cells and macrophage subsets 1
10.61 CSF1 CSF2
22
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) 66
Show member pathways
 10.42 CSF2RA CSF2RB SFTPB SFTPC SFTPD
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GO Terms for Pulmonary Alveolar Proteinosis

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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 9.8 CCL2 CSF1 CSF2 CSF2RA SFTPB SFTPC
3 multivesicular body GO:0005771 9.37 SFTPB SFTPD
4 lamellar body GO:0042599 9.16 SFTPB SFTPC
5 multivesicular body lumen GO:0097486 8.96 SFTPB SFTPC
6 clathrin-coated endocytic vesicle GO:0045334 8.8 SFTPB SFTPC SFTPD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.61 CSF2 CSF2RA CSF2RB
2 MAPK cascade GO:0000165 9.56 CCL2 CSF2 CSF2RA CSF2RB
3 cytokine-mediated signaling pathway GO:0019221 9.55 CCL2 CSF1 CSF2 CSF2RA CSF2RB
4 animal organ morphogenesis GO:0009887 9.54 CCL2 GATA2 SFTPB
5 positive regulation of phagocytosis GO:0050766 9.49 GATA2 SFTPD
6 homeostasis of number of cells within a tissue GO:0048873 9.48 CSF1 GATA2
7 embryonic placenta development GO:0001892 9.46 CSF2 GATA2
8 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.4 CSF1 CSF2
9 macrophage chemotaxis GO:0048246 9.32 CCL2 SFTPD
10 respiratory gaseous exchange GO:0007585 9.26 CSF2RB SFTPB SFTPC SFTPD
11 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:

# 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

Sources for Pulmonary Alveolar Proteinosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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