Pulmonary Alveolar Proteinosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 Expand all tables

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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:

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

KEGG ³⁸ H00217

ICD9CM ³⁶ 516.0

MeSH ⁴⁵ D011649

NCIt ⁵¹ C85037

SNOMED-CT ⁶⁹ 10501004

ICD10 ³⁴ J84.01

UMLS ⁷⁴ C0034050

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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...

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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:

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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

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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

Sargramostim

Approved, Investigational

Phase 2, Phase 3,Phase 1

123774-72-1, 83869-56-1

Molgramostim

Investigational

Phase 2, Phase 3,Phase 3,Phase 1

99283-10-0

Immunologic Factors

Phase 2, Phase 3,Phase 1

Pulmonary Surfactants

Phase 2, Phase 3

Antibiotics, Antitubercular

Phase 2, Phase 3

Anti-Bacterial Agents

Phase 2, Phase 3

Autoantibodies

Phase 2, Phase 3,Phase 1

Pharmaceutical Solutions

Phase 2, Phase 3,Phase 1

rituximab

Approved

Phase 2,Phase 1

174722-31-7

10201696

leucovorin

Approved

Phase 2

58-05-9

143 6006

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

126941

Methylcobalamin

Approved, Experimental, Investigational

Phase 1, Phase 2

13422-55-4

Hydroxocobalamin

Approved

Phase 1, Phase 2

13422-51-0

15589840 11953898

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 2,Phase 1

59-30-3

6037

Methionine

Approved, Nutraceutical

Phase 1, Phase 2

63-68-3

6137

Cyanocobalamin

Approved, Nutraceutical

Phase 1, Phase 2

68-19-9

44176380

Cobalamin

Experimental

Phase 1, Phase 2

13408-78-1

6857388

Antirheumatic Agents

Phase 2,Phase 1

Antibodies

Phase 2,Phase 1

Antineoplastic Agents, Immunological

Phase 2,Phase 1

Immunoglobulins

Phase 2,Phase 1

Nucleic Acid Synthesis Inhibitors

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Immunosuppressive Agents

Phase 2

Antimetabolites

Phase 2

Vitamin B9

Phase 2,Phase 1

Vitamin B Complex

Phase 2,Phase 1

Folic Acid Antagonists

Phase 2

Folate

Phase 2,Phase 1

Dermatologic Agents

Phase 2

Liver Extracts

Phase 1, Phase 2

Vitamins

Phase 1, Phase 2

Nutrients

Phase 1, Phase 2

Trace Elements

Phase 1, Phase 2

Micronutrients

Phase 1, Phase 2

Vitamin B12

Phase 1, Phase 2

Hematinics

Phase 1, Phase 2

Vitamin B 12

Phase 1, Phase 2

Pioglitazone

Approved, Investigational

Phase 1

111025-46-8

4829

carbamide peroxide

Approved

Phase 1

124-43-6

Hypoglycemic Agents

Phase 1

Antibodies, Monoclonal

Phase 1

Nicotine

Approved

54-11-5

89594 942

Protein C

Approved

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

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Genetic Tests for Pulmonary Alveolar Proteinosis

Genetic tests related to Pulmonary Alveolar Proteinosis:

#	Genetic test	Affiliating Genes
1	Pulmonary Alveolar Proteinosis ³⁰

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Anatomical Context for Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

⁴²

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

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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 )	Hosoda C...Kuwano K	2019
2	Pulmonary alveolar proteinosis: An autoimmune disease lacking an HLA association. ( 30845238 )	Anderson K...Fontenot A	2019
3	Secondary pulmonary alveolar proteinosis in acute myeloid leukemia. ( 30295888 )	Hirakawa T...Hattori N	2019
4	Incidence of autoimmune pulmonary alveolar proteinosis estimated using Poisson distribution. ( 30895185 )	Kitamura N...Nakata K	2019
5	Combined-modality therapy for pulmonary alveolar proteinosis in a remote setting: a case report. ( 30866900 )	Boyce DSK...Hostler DC	2019
6	The influence of genetics on therapeutic developments in pulmonary alveolar proteinosis. ( 30865035 )	Campo I	2019
7	Pulmonary alveolar proteinosis. ( 30846703 )	Trapnell BC...McCarthy C	2019
8	Pulmonary alveolar proteinosis. ( 30846701 )		2019
9	Automated Parenchymal Pattern Analysis of Treatment Responses in Pulmonary Alveolar Proteinosis. ( 30822107 )	McCarthy C...Trapnell BC	2019
10	Blood Testing for Differential Diagnosis of Pulmonary Alveolar Proteinosis Syndrome. ( 30732696 )	McCarthy C...Trapnell BC	2019
11	Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis. ( 30723866 )	Alzaid M...Mohamed S	2019
12	Pulmonary alveolar proteinosis - a crazy presentation of dyspnea. ( 30533207 )	Skov IR...Davidsen JR	2019
13	Autoimmune pulmonary alveolar proteinosis presenting peripheral ground-glass opacities. ( 30459948 )	Sugino K...Tsuboi E	2019
14	Quantitative Lipidomics in Pulmonary Alveolar Proteinosis. ( 31002528 )	Griese M...Liebisch G	2019
15	Autoimmune pulmonary alveolar proteinosis in a patient with sarcoidosis. ( 30997074 )	Tanaka Y...Suda T	2019
16	Autoimmune Pulmonary Alveolar Proteinosis Diagnosed After Exposure to a Fire Extinguisher Containing Silica Powder: A Case Study. ( 30996157 )	Yorozuya T...Takahashi H	2019
17	Pulmonary Alveolar Proteinosis: A Case of Profound Hypoxemia in a Previously Healthy Teenager. ( 30973497 )	Feld L...Harris M	2019
18	Interstitial lung disease as a late complication of pulmonary alveolar proteinosis. ( 30886668 )	Semionov A...Kosiuk J	2019
19	Pulmonary alveolar proteinosis following cryptococcal meningitis: a possible cause? ( 29592982 )	Demir S...Cottin V	2018
20	Two cases of autoimmune and secondary pulmonary alveolar proteinosis during immunosuppressive therapy in dermatomyositis with interstitial lung disease. ( 26872621 )	Imura Y...Mimori T	2018
21	Whole-lung lavage for severe pulmonary alveolar proteinosis assisted by veno-venous extracorporeal membrane oxygenation: a case report. ( 30745796 )	Moreira JP...Fiuza C	2018
22	CT findings in pulmonary alveolar proteinosis: serial changes and prognostic implications. ( 30505485 )	Da Nam B...Lee KS	2018
23	Blood testing in the diagnosis of pulmonary alveolar proteinosis - Authors' reply. ( 30484431 )	Kumar A...Culver D	2018
24	Blood testing in the diagnosis of pulmonary alveolar proteinosis. ( 30484430 )	McCarthy C...Trapnell BC	2018
25	Atypical pulmonary alveolar proteinosis presenting as a mixed nodular ground-glass opacity with focal mucinosis mimicking lung cancer. ( 30416819 )	Shinohara T...Ogushi F	2018
26	Better approach for autoimmune pulmonary alveolar proteinosis treatment: inhaled or subcutaneous granulocyte-macrophage colony-stimulating factor: a meta-analyses. ( 30165864 )	Sheng G...Zhang HL	2018
27	Pulmonary Alveolar Proteinosis in Hereditary and Autoimmune Forms With 2 Cases. ( 30113436 )	Sirin Kose S...Anal O	2018
28	iPSC-Derived Macrophages Effectively Treat Pulmonary Alveolar Proteinosis in Csf2rb-Deficient Mice. ( 30100408 )	Mucci A...Moritz T	2018
29	Statin as a novel pharmacotherapy of pulmonary alveolar proteinosis. ( 30087322 )	McCarthy C...Trapnell BC	2018
30	Disseminated Cryptococcus gattii infection preceding onset of pulmonary alveolar proteinosis. ( 30083345 )	Quah J...Fong R	2018
31	Prevalence and healthcare burden of pulmonary alveolar proteinosis. ( 30064481 )	McCarthy C...Trapnell BC	2018
32	The presence of autoimmune antibodies in pulmonary alveolar proteinosis does not necessarily imply idiopathic disease. ( 30057290 )	Ronsmans S...Nemery B	2018
33	Characterization and outcomes of pulmonary alveolar proteinosis in Brazil: a case series. ( 30043890 )	Athayde RAB...Baldi BG	2018
34	Pulmonary alveolar proteinosis in children: An unusual presentation with significant clinical impact. ( 30004070 )	Iyengar JN...R Reddy BKK	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 )	Nakano R...Nakata K	2018
36	Novel application of cryobiopsy in the diagnosis of pulmonary alveolar proteinosis. ( 29938112 )	Shen MF...Tu CY	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 )	Skoczynski S...Barczyk A	2018
38	Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity. ( 29775242 )	Comisso M...Mirande M	2018
39	Autoimmune pulmonary alveolar proteinosis in an adolescent successfully treated with inhaled rhGM-CSF (molgramostim). ( 29719809 )	Gajewska ME...Bendstrup EM	2018
40	Manmade Macrophage Offers a New Therapy for Pulmonary Alveolar Proteinosis. ( 29669215 )	Racanelli AC...Ding BS	2018
41	Whole-lung lavage in a patient with pulmonary alveolar proteinosis. ( 29652291 )	Hunter Guevara LR...Barbara DW	2018
42	Pulmonary Transplantation of Human Induced Pluripotent Stem Cell-derived Macrophages Ameliorates Pulmonary Alveolar Proteinosis. ( 29652170 )	Happle C...Hansen G	2018
43	Pulmonary Alveolar Proteinosis in Setting of Inhaled Toxin Exposure and Chronic Substance Abuse. ( 29607238 )	Li M...Naqvi A	2018
44	Evolving management and patient choice in pulmonary alveolar proteinosis. ( 29580708 )	Munsif M...Stirling R	2018
45	Peripheral alveolar nitric oxide concentration reflects alveolar inflammation in autoimmune pulmonary alveolar proteinosis. ( 29577041 )	Hirano T...Ichinose M	2018
46	Pleural effusion as presenting feature of pulmonary alveolar proteinosis: A rare occurrence. ( 29498798 )	Khurana AK...Khurana U	2018
47	An eleven-year retrospective cross-sectional study on pulmonary alveolar proteinosis. ( 29490416 )	Kiani A...Abedini A	2018
48	New interplay between interstitial and alveolar macrophages explains pulmonary alveolar proteinosis (PAP) induced by indium tin oxide particles. ( 29484482 )	Huaux F...Lison D	2018
49	Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. ( 29455859 )	Cho K...Ariga T	2018
50	Cytopathological examination of bronchoalveolar lavage fluid in diagnosis of pulmonary alveolar proteinosis. ( 29403217 )	Kishore M...Kumari M	2018

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Genes for Pulmonary Alveolar Proteinosis

Genes related to Pulmonary Alveolar Proteinosis (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MARS	Methionyl-TRNA Synthetase	Protein Coding	443.5	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	SFTPB	Surfactant Protein B	Protein Coding	45.17	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries (show sections)	15358702 9793979 10445627 (more) 20005435 16042774
3	SFTPC	Surfactant Protein C	Protein Coding	43.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries (show sections)	11453699 19136726 16042774 (more) 16443648 15039969 15358702
4	CSF1	Colony Stimulating Factor 1	Protein Coding	37.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16565598 16275889 10499925 (more) 18955570 18202348 19282464 9154892 8583713 18592998
5	CSF2	Colony Stimulating Factor 2	Protein Coding	36.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16507860 16423274 16316563 (more) 8676086 15730782 14512323 19265094 12356582 11930665 20064973 18251786 10198353 18618617 17287477 16423275 10764303 10764326 9763547 19666756 9694696 10934102 11802999 15735059
6	SFTPD	Surfactant Protein D	Protein Coding	34.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8424457 19046553 8046250 (more) 11355171 15274124 16472150 16316563 8520747 9844346 18251786 10456901 18595202
7	GATA2	GATA Binding Protein 2	Protein Coding	33.23	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
8	CSF2RA	Colony Stimulating Factor 2 Receptor Alpha Subunit	Protein Coding	25.57	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	25.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	15596412 10515418
10	CSF2RB	Colony Stimulating Factor 2 Receptor Beta Common Subunit	Protein Coding	24.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

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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

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Expression for Pulmonary Alveolar Proteinosis

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

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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	Metabolism of proteins ⁶⁷ Show member pathways Post-translational protein modification ⁶⁷	13.49	CCL2 CSF2RA CSF2RB SFTPB SFTPC SFTPD
2	Akt Signaling ⁶⁵ Show member pathways p38 Signaling ⁶⁵ Tec Kinases Signaling ⁶⁵	13.12	CCL2 CSF1 CSF2 CSF2RA CSF2RB
3	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	13.08	CCL2 CSF1 CSF2 CSF2RA CSF2RB
4	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	13	CCL2 CSF1 CSF2 CSF2RA CSF2RB
5	NF-kappaB Signaling ⁴	12.3	CCL2 CSF2RB GATA2
6	JAK-STAT signaling pathway (KEGG) ⁶⁶ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁷ JAK-STAT signaling pathway ³⁸	12.13	CSF2 CSF2RA CSF2RB
7	G beta-gamma signalling through PI3Kgamma ⁶⁷ Show member pathways G-protein beta-gamma signalling ⁶⁷ GPVI-mediated activation cascade ⁶⁷	11.88	CSF2 CSF2RA CSF2RB
8	TNF signaling pathway ³⁸	11.69	CCL2 CSF1 CSF2
9	Hematopoietic cell lineage ³⁸	11.62	CSF1 CSF2 CSF2RA
10	Rheumatoid arthritis ³⁸	11.57	CCL2 CSF1 CSF2
11	Diseases of metabolism ⁶⁷ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁷ Defective CD320 causes methylmalonic aciduria ⁶⁷ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁷ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁷ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁷ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁷ Defects in cobalamin (B12) metabolism ⁶⁷ Defects in vitamin and cofactor metabolism ⁶⁷ Electron transport from NADPH to Ferredoxin ⁶⁷ Metabolic disorders of biological oxidation enzymes ⁶⁷	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 ⁶⁷	11.23	CCL2 CSF1 CSF2
15	Hematopoietic Stem Cell Differentiation ¹	11.18	CSF1 CSF2 GATA2
16	MSP-RON Signaling ⁶⁵	11.11	CCL2 CSF1 CSF2RB
17	Cytokines and Inflammatory Response ¹	11.02	CSF1 CSF2
18	Surfactant metabolism ⁶⁷ Show member pathways Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) ⁶⁷ Diseases associated with surfactant metabolism ⁶⁷	10.99	CSF2RA CSF2RB SFTPB SFTPC SFTPD
19	G-protein signaling_RhoB regulation pathway ²³	10.95	CCL2 CSF1 CSF2
20	LDL Oxidation in Atherogenesis ⁶⁵	10.71	CCL2 CSF1
21	Development of pulmonary dendritic cells and macrophage subsets ¹	10.61	CSF1 CSF2
22	Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) ⁶⁷ Show member pathways Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) ⁶⁷ Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) ⁶⁷ Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) ⁶⁷ Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF) ⁶⁷	10.42	CSF2RA CSF2RB SFTPB SFTPC SFTPD

Sources

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

Sources for Pulmonary Alveolar Proteinosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia