MCID: HRD171
MIFTS: 32

Hereditary Pulmonary Alveolar Proteinosis

Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hereditary Pulmonary Alveolar Proteinosis

MalaCards integrated aliases for Hereditary Pulmonary Alveolar Proteinosis:

Name: Hereditary Pulmonary Alveolar Proteinosis 59
Pulmonary Alveolar Proteinosis, Congenital 73
Congenital Pulmonary Alveolar Proteinosis 59
Congenital Pap 59

Characteristics:

Orphanet epidemiological data:

59
hereditary pulmonary alveolar proteinosis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA264675
UMLS via Orphanet 74 C2931035
ICD10 via Orphanet 34 J84.0
UMLS 73 C2931035

Summaries for Hereditary Pulmonary Alveolar Proteinosis

MalaCards based summary : Hereditary Pulmonary Alveolar Proteinosis, also known as pulmonary alveolar proteinosis, congenital, is related to pulmonary alveolar proteinosis and congenital pulmonary alveolar proteinosis. An important gene associated with Hereditary Pulmonary Alveolar Proteinosis is CSF2RB (Colony Stimulating Factor 2 Receptor Beta Common Subunit), and among its related pathways/superpathways are PEDF Induced Signaling and Cytokine Signaling in Immune system. The drug Molgramostim has been mentioned in the context of this disorder. Affiliated tissues include lung and liver, and related phenotype is Increased viability with SS1P at EC90.

Related Diseases for Hereditary Pulmonary Alveolar Proteinosis

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



Diseases related to Hereditary Pulmonary Alveolar Proteinosis

Symptoms & Phenotypes for Hereditary Pulmonary Alveolar Proteinosis

GenomeRNAi Phenotypes related to Hereditary Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with SS1P at EC90 GR00376-A-1 8.62 CSF2RA CSF2RB

Drugs & Therapeutics for Hereditary Pulmonary Alveolar Proteinosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Molgramostim Investigational Phase 2 99283-10-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) Completed NCT01511068 Phase 2 Leukine

Search NIH Clinical Center for Hereditary Pulmonary Alveolar Proteinosis

Genetic Tests for Hereditary Pulmonary Alveolar Proteinosis

Anatomical Context for Hereditary Pulmonary Alveolar Proteinosis

MalaCards organs/tissues related to Hereditary Pulmonary Alveolar Proteinosis:

41
Lung, Liver

Publications for Hereditary Pulmonary Alveolar Proteinosis

Articles related to Hereditary Pulmonary Alveolar Proteinosis:

(show all 14)
# Title Authors Year
1
Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age. ( 28512724 )
2017
2
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile. ( 28212655 )
2017
3
TALEN-mediated functional correction of human iPSC-derived macrophages in context of hereditary pulmonary alveolar proteinosis. ( 29123113 )
2017
4
Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption. ( 28233860 )
2017
5
Murine iPSC-Derived Macrophages as a Tool for Disease Modeling of Hereditary Pulmonary Alveolar Proteinosis due to Csf2rb Deficiency. ( 27453007 )
2016
6
Pulmonary transplantation of macrophage progenitors as effective and long-lasting therapy for hereditary pulmonary alveolar proteinosis. ( 25143363 )
2014
7
Congenital pulmonary alveolar proteinosis. ( 23710403 )
2013
8
Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia? ( 23206404 )
2013
9
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. ( 21075760 )
2011
10
Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. ( 21205713 )
2011
11
Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. ( 20622029 )
2010
12
[Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases]. ( 20005435 )
2009
13
Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration. ( 16423278 )
2006
14
Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support. ( 1341413 )
1992

Variations for Hereditary Pulmonary Alveolar Proteinosis

Expression for Hereditary Pulmonary Alveolar Proteinosis

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

Pathways for Hereditary Pulmonary Alveolar Proteinosis

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 CRLF2 CSF2RA CSF2RB IL3RA
2
Show member pathways
12.73 CSF2RA CSF2RB IL3RA OAS1
3 12.3 CSF2RA CSF2RB IL3RA
4
Show member pathways
11.87 CSF2RB IL3RA
5
Show member pathways
11.73 CSF2RB IL3RA
6
Show member pathways
11.52 CSF2RB IL3RA
7 11.44 CSF2RA IL3RA
8 11.42 CSF2RB IL3RA
9
Show member pathways
11.4 CSF2RA CSF2RB
10
Show member pathways
11.32 CSF2RA CSF2RB IL3RA
11
Show member pathways
11.29 CRLF2 CSF2RA CSF2RB IL3RA
12 11.05 CSF2RB IL3RA
13
Show member pathways
10.89 CSF2RA CSF2RB
14
Show member pathways
10.55 CSF2RA CSF2RB

GO Terms for Hereditary Pulmonary Alveolar Proteinosis

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.13 CRLF2 CSF2RA IL3RA
2 receptor complex GO:0043235 8.8 CRLF2 CSF2RA IL3RA

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.5 CSF2RA CSF2RB IL3RA
2 peptidyl-tyrosine phosphorylation GO:0018108 9.43 CSF2RA CSF2RB IL3RA
3 cellular protein metabolic process GO:0044267 9.37 CSF2RA CSF2RB
4 cellular response to interleukin-3 GO:0036016 9.16 CSF2RB IL3RA
5 interleukin-3-mediated signaling pathway GO:0038156 8.96 CSF2RB IL3RA
6 cytokine-mediated signaling pathway GO:0019221 8.92 CRLF2 CSF2RA CSF2RB IL3RA

Molecular functions related to Hereditary Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.5 CSF2RA CSF2RB IL3RA
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 CSF2RA CSF2RB IL3RA
3 interleukin-3 receptor activity GO:0004912 9.16 CSF2RB IL3RA
4 cytokine binding GO:0019955 9.13 CRLF2 CSF2RA IL3RA
5 cytokine receptor activity GO:0004896 8.92 CRLF2 CSF2RA CSF2RB IL3RA

Sources for Hereditary Pulmonary Alveolar Proteinosis

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
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