PedAM

Pediatric Disease Annotations & Medicines


	pulmonary alveolar proteinosis

Disease ID	422
Disease	pulmonary alveolar proteinosis
Definition	A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.
Synonym	alveolar proteinoses pulm alveolar proteinoses, pulmonary alveolar proteinosis alveolar proteinosis pulm alveolar proteinosis, pulmonary lung, alveolar proteinosis pap - pulmonary alveolar proteinosis proteinoses pulm alveolar proteinoses, pulmonary alveolar proteinosis alveolar proteinosis pulm alveolar proteinosis, pulmonary alveolar pul alveolar proteinosis pulm alveolar proteinoses pulm alveolar proteinosis pulmonary alveolar proteinoses pulmonary alveolar proteinosis (disorder) pulmonary alveolar proteinosis [disease/finding]
DOID	DOID:12120
ICD10	ICD10CM:J84.01
UMLS	C0034050
MeSH	D011649
SNOMED-CT	SNOMEDCT_US_2016_09_01:10501004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C1145670 \| respiratory failure \| 3 C0041296 \| tuberculosis \| 2 C0032273 \| pneumoconiosis \| 2 C0242379 \| lung cancer \| 2 C0042769 \| virus infection \| 1 C0684249 \| lung carcinoma \| 1 C0024115 \| lung disease \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0034069 \| pulmonary fibrosis \| 1 C0268124 \| adenosine deaminase deficiency \| 1 C0037116 \| silicosis \| 1 C0004623 \| bacterial infections \| 1 C0149925 \| small cell lung carcinoma \| 1 C0268124 \| ada deficiency \| 1 C0032298 \| lipoid pneumonia \| 1 C0032285 \| pneumonia \| 1 C0032285 \| pneumonitis \| 1 C0006142 \| breast cancer \| 1 C0001175 \| acquired immunodeficiency syndrome \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0002876 \| congenital dyserythropoietic anemia \| 1 C0004623 \| bacterial infection \| 1 C0002390 \| hypersensitivity pneumonitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MARS \| 4141 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 30009 \| TBX21 \| DISEASES 6445 \| SGCG \| DISEASES 9057 \| SLC7A6 \| DISEASES 23659 \| PLA2G15 \| DISEASES 1512 \| CTSH \| DISEASES 973 \| CD79A \| DISEASES 1048 \| CEACAM5 \| DISEASES 1440 \| CSF3 \| DISEASES 6347 \| CCL2 \| DISEASES 6688 \| SPI1 \| DISEASES 3567 \| IL5 \| DISEASES 84329 \| HVCN1 \| DISEASES 78992 \| YIPF2 \| DISEASES 9476 \| NAPSA \| DISEASES 1116 \| CHI3L1 \| DISEASES 60468 \| BACH2 \| DISEASES 8737 \| RIPK1 \| DISEASES 4141 \| MARS \| DISEASES 2294 \| FOXF1 \| DISEASES 259 \| AMBP \| DISEASES 5423 \| POLB \| DISEASES 3948 \| LDHC \| DISEASES 9056 \| SLC7A7 \| DISEASES 5468 \| PPARG \| DISEASES 6777 \| STAT5B \| DISEASES 10158 \| PDZK1IP1 \| DISEASES 3562 \| IL3 \| DISEASES 1437 \| CSF2 \| DISEASES 1672 \| DEFB1 \| DISEASES 55630 \| SLC39A4 \| DISEASES 21 \| ABCA3 \| DISEASES 10125 \| RASGRP1 \| DISEASES 931 \| MS4A1 \| DISEASES 6440 \| SFTPC \| DISEASES 79901 \| CYBRD1 \| DISEASES 1435 \| CSF1 \| DISEASES 3665 \| IRF7 \| DISEASES 30 \| ACAA1 \| DISEASES 89781 \| HPS4 \| DISEASES 6776 \| STAT5A \| DISEASES 3605 \| IL17A \| DISEASES 2624 \| GATA2 \| DISEASES 5265 \| SERPINA1 \| DISEASES 9619 \| ABCG1 \| DISEASES 4582 \| MUC1 \| DISEASES 959 \| CD40LG \| DISEASES 6441 \| SFTPD \| DISEASES 729238 \| SFTPA2 \| DISEASES 84890 \| ADO \| DISEASES 19 \| ABCA1 \| DISEASES 64109 \| CRLF2 \| DISEASES 55835 \| CENPJ \| DISEASES 6439 \| SFTPB \| DISEASES 6355 \| CCL8 \| DISEASES 4891 \| SLC11A2 \| DISEASES 100134934 \| TEN1 \| DISEASES 29965 \| CDIP1 \| DISEASES 1439 \| CSF2RB \| DISEASES 23308 \| ICOSLG \| DISEASES 10062 \| NR1H3 \| DISEASES 1438 \| CSF2RA \| DISEASES 653509 \| SFTPA1 \| DISEASES 1012 \| CDH13 \| DISEASES 3586 \| IL10 \| DISEASES 727897 \| MUC5B \| DISEASES 3684 \| ITGAM \| DISEASES 10577 \| NPC2 \| DISEASES 56963 \| RGMA \| DISEASES
Locus	(Waiting for update.)

Disease ID	422
Disease	pulmonary alveolar proteinosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0002878 \| Respiratory failure \| 3 HP:0004810 \| Congenital hypoplastic anemia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0006515 \| Interstitial pneumonitis \| 1 HP:0006516 \| Hypersensitivity pneumonitis \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0010972 \| Anemia of inadequate production \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012418 \| Low blood oxygen level \| 1

Disease ID	422
Disease	pulmonary alveolar proteinosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2364133 \| infection C0272183 \| neutrophil dysfunction C0235896 \| pulmonary infiltrates C0035229 \| respiratory insufficiency C0024115 \| lung disease C0010414 \| cryptococcosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C1145670 \| respiratory failure \| 3 C0024115 \| lung disease \| 1 C0026986 \| myelodysplastic syndrome \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs141340466	NA	4141	MARS	umls:C0034050	CLINVAR	NA	0.120271442	NA	MARS	12	57500406	G	A
rs143592405	NA	4141	MARS	umls:C0034050	CLINVAR	NA	0.120271442	NA	MARS;MIR6758	12	57512300	C	T
rs756021768	NA	4141	MARS	umls:C0034050	CLINVAR	NA	0.120271442	NA	MARS;MIR6758	12	57512811	A	G,T
rs766466297	NA	4141	MARS	umls:C0034050	CLINVAR	NA	0.120271442	NA	MARS	12	57498563	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics