MCID: PLM006
MIFTS: 50

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 77 38 30 56 6 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:12120
KEGG 38 H00217
ICD9CM 36 516.0
MeSH 45 D011649
NCIt 51 C85037
SNOMED-CT 69 10501004
ICD10 34 J84.01
UMLS 74 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 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 Sargramostim and Molgramostim have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and bone, and related phenotype is respiratory system.

Wikipedia : 77 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 131)
# Related Disease Score Top Affiliating Genes
1 hereditary pulmonary alveolar proteinosis 33.8 CSF2RA CSF2RB
2 respiratory failure 30.7 SFTPB SFTPC SFTPD
3 pulmonary fibrosis 30.5 CCL2 SFTPC SFTPD
4 pneumonia 30.5 CCL2 SFTPB SFTPC SFTPD
5 silicosis 30.1 CCL2 SFTPD
6 arthritis 29.9 CCL2 CSF1 CSF2
7 aspergillosis 29.9 CSF2 SFTPD
8 pulmonary fibrosis, idiopathic 29.9 CCL2 SFTPB SFTPC SFTPD
9 idiopathic interstitial pneumonia 29.8 CCL2 SFTPC SFTPD
10 interstitial lung disease 29.8 CCL2 SFTPB SFTPC SFTPD
11 lung disease 29.7 CCL2 CSF2 SFTPB SFTPC SFTPD
12 pulmonary alveolar proteinosis, acquired 13.0
13 congenital pulmonary alveolar proteinosis 12.9
14 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.8
15 secondary pulmonary alveolar proteinosis 12.6
16 interstitial lung and liver disease 12.4
17 surfactant metabolism dysfunction, pulmonary, 5 12.3
18 surfactant metabolism dysfunction, pulmonary, 4 12.3
19 surfactant metabolism dysfunction, pulmonary, 1 12.1
20 immunodeficiency 21 11.9
21 surfactant metabolism dysfunction, pulmonary, 2 11.9
22 lysinuric protein intolerance 11.7
23 surfactant metabolism dysfunction, pulmonary, 3 11.6
24 leukemia 10.6
25 myelodysplastic syndrome 10.6
26 lung cancer 10.4
27 nocardiosis 10.4
28 leukemia, chronic myeloid 10.4
29 myeloid leukemia 10.4
30 autoimmune disease 10.3
31 sarcoidosis 1 10.3
32 cryptococcosis 10.3
33 neonatal respiratory failure 10.3 SFTPB SFTPC
34 surfactant dysfunction 10.3 SFTPB SFTPC
35 respiratory distress syndrome in premature infants 10.3 SFTPB SFTPC
36 lipid pneumonia 10.3
37 tracheal agenesis 10.2 SFTPB SFTPD
38 diaphragm disease 10.2 SFTPB SFTPC
39 meconium aspiration syndrome 10.2 CSF2 SFTPB
40 systemic lupus erythematosus 10.2
41 interstitial pneumonitis, desquamative, familial 10.2
42 leukemia, acute myeloid 10.2
43 membranous nephropathy 10.2
44 pulmonary hypertension 10.2
45 niemann-pick disease 10.2
46 desquamative interstitial pneumonia 10.2
47 pneumothorax 10.2
48 squamous cell carcinoma 10.2
49 agammaglobulinemia 10.2
50 pulmonary tuberculosis 10.2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.1 CSF1 CSF2 CSF2RB SFTPB SFTPC SFTPD

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2, Phase 3,Phase 1 123774-72-1, 83869-56-1
2 Molgramostim Investigational Phase 2, Phase 3,Phase 3,Phase 1 99283-10-0
3 Immunologic Factors Phase 2, Phase 3,Phase 1
4 Pulmonary Surfactants Phase 2, Phase 3
5 Antibiotics, Antitubercular Phase 2, Phase 3
6 Anti-Bacterial Agents Phase 2, Phase 3
7 Autoantibodies Phase 2, Phase 3,Phase 1
8 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
9
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
10
leucovorin Approved Phase 2 58-05-9 143 6006
11
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
12
Methylcobalamin Approved, Experimental, Investigational Phase 1, Phase 2 13422-55-4
13
Hydroxocobalamin Approved Phase 1, Phase 2 13422-51-0 15589840 11953898
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 59-30-3 6037
15
Methionine Approved, Nutraceutical Phase 1, Phase 2 63-68-3 6137
16
Cyanocobalamin Approved, Nutraceutical Phase 1, Phase 2 68-19-9 44176380
17
Cobalamin Experimental Phase 1, Phase 2 13408-78-1 6857388
18 Antirheumatic Agents Phase 2,Phase 1
19 Antibodies Phase 2,Phase 1
20 Antineoplastic Agents, Immunological Phase 2,Phase 1
21 Immunoglobulins Phase 2,Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Immunosuppressive Agents Phase 2
25 Antimetabolites Phase 2
26 Vitamin B9 Phase 2,Phase 1
27 Vitamin B Complex Phase 2,Phase 1
28 Folic Acid Antagonists Phase 2
29 Folate Phase 2,Phase 1
30 Dermatologic Agents Phase 2
31 Liver Extracts Phase 1, Phase 2
32 Vitamins Phase 1, Phase 2
33 Nutrients Phase 1, Phase 2
34 Trace Elements Phase 1, Phase 2
35 Micronutrients Phase 1, Phase 2
36 Vitamin B12 Phase 1, Phase 2
37 Hematinics Phase 1, Phase 2
38 Vitamin B 12 Phase 1, Phase 2
39
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
40
carbamide peroxide Approved Phase 1 124-43-6
41 Hypoglycemic Agents Phase 1
42 Antibodies, Monoclonal Phase 1
43
Nicotine Approved 54-11-5 89594 942
44
Protein C Approved
45 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 Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in Japan Completed NCT02835742 Phase 2 Sargramostim;Placebo
9 A Study to Investigate the Efficacy and Safety of GSK3196165 in Inflammatory Hand Osteoarthritis Completed NCT02683785 Phase 2 GSK3196165;Placebo
10 Mechanistic Study of GSK3196165 Plus Methotrexate (MTX) in Subjects With Active Rheumatoid Arthritis Completed NCT02799472 Phase 2 GSK3196165;Placebo;MTX;Folic (or folinic) acid
11 Sequential Therapy With WLL/Inhaling GM-CSF for Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03316651 Phase 2 GM-CSF
12 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
13 GM-CSF in Patients With Pulmonary Alveolar Proteinosis Terminated NCT00030056 Phase 2 GM-CSF (granulocyte-macrophage colony-stimulating factor, sargramostim)
14 SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic Study Completed NCT02840708 Phase 1 Sargramostim
15 Inhaled Molgramostim (rhGM-CSF) in 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 Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Autoimmune Pulmonary Alveolar Proteinosis Active, not recruiting NCT03231033 Phase 1 Pioglitazone
18 Rituximab for Anti-cytokine Autoantibody-Associated Diseases Active, not recruiting NCT01842386 Phase 1 Rituximab/Rituxan
19 Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial Completed NCT03007134
20 Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CT Completed NCT02081092
21 A National Registry For Pulmonary Alveolar Proteinosis Recruiting NCT02461615
22 The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis Recruiting NCT03531996
23 European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank Recruiting NCT02852928
24 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 30

Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

42
Lung, Myeloid, Bone, Testes, Brain, Bone Marrow, Heart

Publications for Pulmonary Alveolar Proteinosis

Articles related to Pulmonary Alveolar Proteinosis:

(show top 50) (show all 799)
# Title Authors Year
1
Pulmonary alveolar proteinosis developing during steroid treatment in a patient with organizing pneumonia in association with atypical chronic myeloid leukemia. ( 30899476 )
2019
2
Pulmonary alveolar proteinosis: An autoimmune disease lacking an HLA association. ( 30845238 )
2019
3
Secondary pulmonary alveolar proteinosis in acute myeloid leukemia. ( 30295888 )
2019
4
Incidence of autoimmune pulmonary alveolar proteinosis estimated using Poisson distribution. ( 30895185 )
2019
5
Combined-modality therapy for pulmonary alveolar proteinosis in a remote setting: a case report. ( 30866900 )
2019
6
The influence of genetics on therapeutic developments in pulmonary alveolar proteinosis. ( 30865035 )
2019
7
Pulmonary alveolar proteinosis. ( 30846703 )
2019
8
Pulmonary alveolar proteinosis. ( 30846701 )
2019
9
Automated Parenchymal Pattern Analysis of Treatment Responses in Pulmonary Alveolar Proteinosis. ( 30822107 )
2019
10
Blood Testing for Differential Diagnosis of Pulmonary Alveolar Proteinosis Syndrome. ( 30732696 )
2019
11
Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis. ( 30723866 )
2019
12
Pulmonary alveolar proteinosis - a crazy presentation of dyspnea. ( 30533207 )
2019
13
Autoimmune pulmonary alveolar proteinosis presenting peripheral ground-glass opacities. ( 30459948 )
2019
14
Quantitative Lipidomics in Pulmonary Alveolar Proteinosis. ( 31002528 )
2019
15
Autoimmune pulmonary alveolar proteinosis in a patient with sarcoidosis. ( 30997074 )
2019
16
Autoimmune Pulmonary Alveolar Proteinosis Diagnosed After Exposure to a Fire Extinguisher Containing Silica Powder: A Case Study. ( 30996157 )
2019
17
Pulmonary Alveolar Proteinosis: A Case of Profound Hypoxemia in a Previously Healthy Teenager. ( 30973497 )
2019
18
Interstitial lung disease as a late complication of pulmonary alveolar proteinosis. ( 30886668 )
2019
19
Pulmonary alveolar proteinosis following cryptococcal meningitis: a possible cause? ( 29592982 )
2018
20
Two cases of autoimmune and secondary pulmonary alveolar proteinosis during immunosuppressive therapy in dermatomyositis with interstitial lung disease. ( 26872621 )
2018
21
Whole-lung lavage for severe pulmonary alveolar proteinosis assisted by veno-venous extracorporeal membrane oxygenation: a case report. ( 30745796 )
2018
22
CT findings in pulmonary alveolar proteinosis: serial changes and prognostic implications. ( 30505485 )
2018
23
Blood testing in the diagnosis of pulmonary alveolar proteinosis - Authors' reply. ( 30484431 )
2018
24
Blood testing in the diagnosis of pulmonary alveolar proteinosis. ( 30484430 )
2018
25
Atypical pulmonary alveolar proteinosis presenting as a mixed nodular ground-glass opacity with focal mucinosis mimicking lung cancer. ( 30416819 )
2018
26
Better approach for autoimmune pulmonary alveolar proteinosis treatment: inhaled or subcutaneous granulocyte-macrophage colony-stimulating factor: a meta-analyses. ( 30165864 )
2018
27
Pulmonary Alveolar Proteinosis in Hereditary and Autoimmune Forms With 2 Cases. ( 30113436 )
2018
28
iPSC-Derived Macrophages Effectively Treat Pulmonary Alveolar Proteinosis in Csf2rb-Deficient Mice. ( 30100408 )
2018
29
Statin as a novel pharmacotherapy of pulmonary alveolar proteinosis. ( 30087322 )
2018
30
Disseminated Cryptococcus gattii infection preceding onset of pulmonary alveolar proteinosis. ( 30083345 )
2018
31
Prevalence and healthcare burden of pulmonary alveolar proteinosis. ( 30064481 )
2018
32
The presence of autoimmune antibodies in pulmonary alveolar proteinosis does not necessarily imply idiopathic disease. ( 30057290 )
2018
33
Characterization and outcomes of pulmonary alveolar proteinosis in Brazil: a case series. ( 30043890 )
2018
34
Pulmonary alveolar proteinosis in children: An unusual presentation with significant clinical impact. ( 30004070 )
2018
35
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
36
Novel application of cryobiopsy in the diagnosis of pulmonary alveolar proteinosis. ( 29938112 )
2018
37
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
38
Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity. ( 29775242 )
2018
39
Autoimmune pulmonary alveolar proteinosis in an adolescent successfully treated with inhaled rhGM-CSF (molgramostim). ( 29719809 )
2018
40
Manmade Macrophage Offers a New Therapy for Pulmonary Alveolar Proteinosis. ( 29669215 )
2018
41
Whole-lung lavage in a patient with pulmonary alveolar proteinosis. ( 29652291 )
2018
42
Pulmonary Transplantation of Human Induced Pluripotent Stem Cell-derived Macrophages Ameliorates Pulmonary Alveolar Proteinosis. ( 29652170 )
2018
43
Pulmonary Alveolar Proteinosis in Setting of Inhaled Toxin Exposure and Chronic Substance Abuse. ( 29607238 )
2018
44
Evolving management and patient choice in pulmonary alveolar proteinosis. ( 29580708 )
2018
45
Peripheral alveolar nitric oxide concentration reflects alveolar inflammation in autoimmune pulmonary alveolar proteinosis. ( 29577041 )
2018
46
Pleural effusion as presenting feature of pulmonary alveolar proteinosis: A rare occurrence. ( 29498798 )
2018
47
An eleven-year retrospective cross-sectional study on pulmonary alveolar proteinosis. ( 29490416 )
2018
48
New interplay between interstitial and alveolar macrophages explains pulmonary alveolar proteinosis (PAP) induced by indium tin oxide particles. ( 29484482 )
2018
49
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )
2018
50
Cytopathological examination of bronchoalveolar lavage fluid in diagnosis of pulmonary alveolar proteinosis. ( 29403217 )
2018

Variations for Pulmonary Alveolar Proteinosis

ClinVar genetic disease variations for Pulmonary Alveolar Proteinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh37 Chromosome 2, 220283591: 220283591
2 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh38 Chromosome 2, 219418869: 219418869
3 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
4 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
5 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
6 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
7 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh38 Chromosome 12, 57512811: 57512811
8 MARS NM_004990.3(MARS): c.1814A> T (p.Asp605Val) single nucleotide variant Pathogenic rs756021768 GRCh37 Chromosome 12, 57906594: 57906594
9 SFTPC NM_001172357.1(SFTPC): c.163C> T (p.Leu55Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 22020207: 22020207
10 SFTPC NM_001172357.1(SFTPC): c.163C> T (p.Leu55Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 22162694: 22162694

Expression for Pulmonary Alveolar Proteinosis

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

Pathways for Pulmonary Alveolar Proteinosis

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 CCL2 CSF2RA CSF2RB SFTPB SFTPC SFTPD
2
Show member pathways
13.12 CCL2 CSF1 CSF2 CSF2RA CSF2RB
3
Show member pathways
13.08 CCL2 CSF1 CSF2 CSF2RA CSF2RB
4
Show member pathways
13 CCL2 CSF1 CSF2 CSF2RA CSF2RB
5 12.3 CCL2 CSF2RB GATA2
6
Show member pathways
12.13 CSF2 CSF2RA CSF2RB
7
Show member pathways
11.88 CSF2 CSF2RA CSF2RB
8 11.69 CCL2 CSF1 CSF2
9 11.62 CSF1 CSF2 CSF2RA
10 11.57 CCL2 CSF1 CSF2
11
Show member pathways
11.52 CSF2RA CSF2RB SFTPB SFTPC SFTPD
12 11.38 CCL2 CSF2 SFTPC
13 11.35 CSF2 SFTPD
14 11.23 CCL2 CSF1 CSF2
15 11.18 CSF1 CSF2 GATA2
16 11.11 CCL2 CSF1 CSF2RB
17 11.02 CSF1 CSF2
18
Show member pathways
10.99 CSF2RA CSF2RB SFTPB SFTPC SFTPD
19 10.95 CCL2 CSF1 CSF2
20 10.71 CCL2 CSF1
21 10.61 CSF1 CSF2
22
Show member pathways
10.42 CSF2RA CSF2RB SFTPB SFTPC SFTPD

GO Terms for Pulmonary Alveolar Proteinosis

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.56 CCL2 CSF2 CSF2RA CSF2RB
2 cytokine-mediated signaling pathway GO:0019221 9.55 CCL2 CSF1 CSF2 CSF2RA CSF2RB
3 positive regulation of phagocytosis GO:0050766 9.48 GATA2 SFTPD
4 homeostasis of number of cells within a tissue GO:0048873 9.46 CSF1 GATA2
5 embryonic placenta development GO:0001892 9.43 CSF2 GATA2
6 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.4 CSF1 CSF2
7 animal organ morphogenesis GO:0009887 9.37 CCL2 SFTPB
8 macrophage chemotaxis GO:0048246 9.32 CCL2 SFTPD
9 respiratory gaseous exchange GO:0007585 9.26 CSF2RB SFTPB SFTPC SFTPD
10 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 receptor activity GO:0004896 8.96 CSF2RA CSF2RB
2 cytokine activity GO:0005125 8.8 CCL2 CSF1 CSF2

Sources for Pulmonary Alveolar Proteinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....