MCID: CHR576
MIFTS: 45

Chronic Beryllium Disease

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Chronic Beryllium Disease

MalaCards integrated aliases for Chronic Beryllium Disease:

Name: Chronic Beryllium Disease 60
Chronic Berylliosis 60 74
Beryllium Disease, Chronic, Susceptibility to 6
Chronic Beryllium Lung Disease 60
Beryllium Disease Chronic 56
Berylliosis 60

Characteristics:

Orphanet epidemiological data:

60
chronic beryllium disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

MESH via Orphanet 46 D001607
ICD10 via Orphanet 35 J63.2
UMLS via Orphanet 75 C0005138 C0221052
Orphanet 60 ORPHA133
UMLS 74 C0221052

Summaries for Chronic Beryllium Disease

MalaCards based summary : Chronic Beryllium Disease, also known as chronic berylliosis, is related to beryllium disease and berylliosis. An important gene associated with Chronic Beryllium Disease is HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1), and among its related pathways/superpathways are Innate Immune System and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs Infliximab and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, t cells and testes.

Wikipedia : 77 Berylliosis, or chronic beryllium disease (CBD), is a chronic allergic-type lung response and chronic... more...

Related Diseases for Chronic Beryllium Disease

Diseases in the Beryllium Disease family:

Chronic Beryllium Disease

Diseases related to Chronic Beryllium Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 176)
# Related Disease Score Top Affiliating Genes
1 beryllium disease 31.3 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
2 berylliosis 30.9 HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNG
3 rheumatic fever 30.1 HLA-DRB1 TNF
4 pulmonary sarcoidosis 30.1 IFNG TNF
5 sarcoidosis 1 29.7 HLA-DRB1 IFNG TNF
6 silicosis 10.3
7 myelitis 10.2 HLA-DPB1 TNF
8 refractory celiac disease 10.2 HLA-DQB1 IFNG
9 idiopathic achalasia 10.2 HLA-DQB1 TNF
10 cardiac sarcoidosis 10.2 HLA-DQB1 TNF
11 asbestosis 10.2
12 asbestos intoxication 10.2
13 sialadenitis 10.2 HLA-DQB1 TNF
14 endometritis 10.2 HLA-DQB1 TNF
15 staphylococcal toxic shock syndrome 10.2 IFNG TNF
16 toxic shock syndrome 10.2 IFNG TNF
17 autoimmune myocarditis 10.2 IFNG TNF
18 trichosporonosis 10.2 IFNG TNF
19 scleritis 10.2 IFNG TNF
20 miliary tuberculosis 10.2 IFNG TNF
21 chronic graft versus host disease 10.2 IFNG TNF
22 clonorchiasis 10.2 IFNG TNF
23 crohn's colitis 10.1 IFNG TNF
24 limbic encephalitis with lgi1 antibodies 10.1 HLA-DQB1 HLA-DRB1
25 meconium aspiration syndrome 10.1 IFNG TNF
26 soft tissue sarcoma 10.1 IFNG TNF
27 narcolepsy 2 10.1 HLA-DQB1 HLA-DRB1
28 autoimmune polyglandular syndrome type 3 10.1 HLA-DQB1 HLA-DRB1
29 tuberculous peritonitis 10.1 IFNG TNF
30 hypersomnia 10.1 HLA-DQB1 HLA-DRB1
31 intermediate uveitis 10.1 IFNG TNF
32 metal allergy 10.1 HLA-DQB1 HLA-DRB1
33 orofacial granulomatosis 10.1 IFNG TNF
34 lichen planopilaris 10.1 HLA-DQB1 HLA-DRB1
35 primary systemic mycosis 10.1 IFNG TNF
36 posterior uveitis 10.1 IFNG TNF
37 type ii mixed cryoglobulinemia 10.1 HLA-DQB1 HLA-DRB1
38 recurrent respiratory papillomatosis 10.1 HLA-DQB1 HLA-DRB1
39 mycoplasma pneumoniae pneumonia 10.1 IFNG TNF
40 poliomyelitis 10.1 IFNG TNF
41 narcolepsy 1 10.1 HLA-DQB1 HLA-DRB1
42 eales disease 10.1 IFNG TNF
43 lichen disease 10.1 IFNG TNF
44 lichen sclerosus 10.1 HLA-DQB1 HLA-DRB1
45 erythema multiforme 10.1 IFNG TNF
46 whipple disease 10.1 HLA-DQB1 HLA-DRB1
47 pleural tuberculosis 10.1 IFNG TNF
48 pityriasis rosea 10.1 HLA-DQB1 HLA-DRB1
49 spotted fever 10.1 IFNG TNF
50 coccidiosis 10.1 IFNG TNF

Graphical network of the top 20 diseases related to Chronic Beryllium Disease:



Diseases related to Chronic Beryllium Disease

Symptoms & Phenotypes for Chronic Beryllium Disease

Drugs & Therapeutics for Chronic Beryllium Disease

Drugs for Chronic Beryllium Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Infliximab Approved Phase 1, Phase 2 170277-31-3
2 Anti-Inflammatory Agents Phase 1, Phase 2
3 Antirheumatic Agents Phase 1, Phase 2,Phase 2
4 Analgesics, Non-Narcotic Phase 1, Phase 2
5 Mesalamine Phase 1, Phase 2 89-57-6
6 Analgesics Phase 1, Phase 2
7 Peripheral Nervous System Agents Phase 1, Phase 2
8 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
9 Gastrointestinal Agents Phase 1, Phase 2
10 Dermatologic Agents Phase 1, Phase 2
11
Heparin Approved, Investigational 9005-49-6 46507594 772
12 Pharmaceutical Solutions
13 calcium heparin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Targeting Oxidative Stress in Chronic Beryllium Disease Completed NCT01088243 Phase 1, Phase 2 Mesalamine;Placebo
2 Beryllium Infliximab Study: Clinical Interventional Trial Terminated NCT00111917 Phase 1, Phase 2 Infliximab
3 The Role of JAK2 in Alveolar Macrophages (AM's) in Chronic Beryllium Disease (CBD) Unknown status NCT02596347
4 Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis Completed NCT00560989
5 Exposure in Epigenetic Regulation of Immune Response in Chronic Beryllium Disease (CBD) Recruiting NCT02604693

Search NIH Clinical Center for Chronic Beryllium Disease

Genetic Tests for Chronic Beryllium Disease

Anatomical Context for Chronic Beryllium Disease

MalaCards organs/tissues related to Chronic Beryllium Disease:

42
Lung, T Cells, Testes, Skin, Bone, Heart, Tonsil

Publications for Chronic Beryllium Disease

Articles related to Chronic Beryllium Disease:

(show top 50) (show all 185)
# Title Authors Year
1
5-Aminosalicylic Acid Modulates the Immune Response in Chronic Beryllium Disease Subjects. ( 29080069 )
2018
2
Effect of inhaled corticosteroids on lung function in chronic beryllium disease. ( 29453139 )
2018
3
A Pilot Study Assessing the Ability of 5-Aminosalicylic Acid to Modulate the Immune Response in Chronic Beryllium Disease. ( 29676640 )
2018
4
Polymorphism of FCGR3A gene in chronic beryllium disease. ( 30245507 )
2018
5
Interstitial pneumonia in a glassblower: think to chronic beryllium disease! ( 31011396 )
2018
6
Chronic Beryllium Disease: The Search for a Dose-Response. ( 27820771 )
2016
7
Beryllium increases the CD14(dim)CD16+ subset in the lung of chronic beryllium disease. ( 25689051 )
2015
8
Identification of multiple public TCR repertoires in chronic beryllium disease. ( 24719461 )
2014
9
Structural basis of chronic beryllium disease: linking allergic hypersensitivity and autoimmunity. ( 24995984 )
2014
10
Sarcoidosis and chronic beryllium disease: similarities and differences. ( 25007084 )
2014
11
Exposure factors associated with chronic beryllium disease development in Beryllium BioBank participants. ( 25099412 )
2014
12
Beryllium Biobank 3: considerations for improving chronic beryllium disease screening. ( 25099414 )
2014
13
Chronic Beryllium Disease: revealing the role of beryllium ion and small peptides binding to HLA-DP2. ( 25369028 )
2014
14
An official American Thoracic Society statement: diagnosis and management of beryllium sensitivity and chronic beryllium disease. ( 25398119 )
2014
15
Chronic beryllium disease: azathioprine as a possible alternative to corticosteroid treatment. ( 23277520 )
2013
16
Identification of beryllium-dependent peptides recognized by CD4+ T cells in chronic beryllium disease. ( 23797096 )
2013
17
Impaired function of CTLA-4 in the lungs of patients with chronic beryllium disease contributes to persistent inflammation. ( 23851684 )
2013
18
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 2: validation of historical exposures. ( 21847507 )
2012
19
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 1: historical exposure reconstruction. ( 21850365 )
2012
20
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 3: exposure-response among short-term workers. ( 21877099 )
2012
21
Systematic review: Progression of beryllium sensitization to chronic beryllium disease. ( 22705916 )
2012
22
Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove. ( 22972925 )
2012
23
Infliximab therapy modulates an antigen-specific immune response in chronic beryllium disease. ( 22974830 )
2012
24
Chronic beryllium disease: an updated model interaction between innate and acquired immunity. ( 20981472 )
2011
25
SELDI-TOF derived serum biomarkers failed to differentiate between patients with beryllium sensitisation and patients with chronic beryllium disease. ( 21278142 )
2011
26
Search for chronic beryllium disease among sarcoidosis patients in Ontario, Canada. ( 21400234 )
2011
27
Exposure and genetics increase risk of beryllium sensitisation and chronic beryllium disease in the nuclear weapons industry. ( 21460389 )
2011
28
Risk of chronic beryllium disease by HLA-DPB1 E69 genotype and beryllium exposure in nuclear workers. ( 21471109 )
2011
29
Non-invasive diagnosis of chronic beryllium disease in workers exposed to hazardous dust in Israel. ( 19955573 )
2010
30
Deficient and dysfunctional regulatory T cells in the lungs of chronic beryllium disease subjects. ( 20299529 )
2010
31
Crystal structure of HLA-DP2 and implications for chronic beryllium disease. ( 20356827 )
2010
32
Low prevalence of chronic beryllium disease among workers at a nuclear weapons research and development facility. ( 20523233 )
2010
33
Association between IL-1A single nucleotide polymorphisms and chronic beryllium disease and beryllium sensitization. ( 20595916 )
2010
34
Chronic beryllium disease: computed tomographic findings. ( 21084914 )
2010
35
Recent chronic beryllium disease in residents surrounding a beryllium facility: patients' information. ( 19119155 )
2009
36
High extracellular induced sputum haem oxygenase-1 in sarcoidosis and chronic beryllium disease. ( 19453654 )
2009
37
Progression from beryllium exposure to chronic beryllium disease: an analytic model. ( 19590692 )
2009
38
Recent advances in understanding the biomolecular basis of chronic beryllium disease: a review. ( 19658317 )
2009
39
Current treatment of chronic beryllium disease. ( 19894178 )
2009
40
Long-term complications and prognosis of chronic beryllium disease. ( 19960785 )
2009
41
Impact of negatively charged patches on the surface of MHC class II antigen-presenting proteins on risk of chronic beryllium disease. ( 17956852 )
2008
42
Modulation of lymphocyte proliferation by antioxidants in chronic beryllium disease. ( 18218990 )
2008
43
Recent chronic beryllium disease in residents surrounding a beryllium facility. ( 18244954 )
2008
44
Up-regulation of programmed death-1 expression on beryllium-specific CD4+ T cells in chronic beryllium disease. ( 18250483 )
2008
45
Immunology of chronic beryllium disease. ( 18317020 )
2008
46
Chronic beryllium disease: risk from low-level exposure. ( 18434330 )
2008
47
The bioinorganic chemistry and associated immunology of chronic beryllium disease. ( 18566702 )
2008
48
Justification for screening for chronic beryllium disease: closer to reality. ( 18757694 )
2008
49
Short- and long-term response to corticosteroid therapy in chronic beryllium disease. ( 18757698 )
2008
50
4-1BB enhances proliferation of beryllium-specific T cells in the lung of subjects with chronic beryllium disease. ( 18768897 )
2008

Variations for Chronic Beryllium Disease

ClinVar genetic disease variations for Chronic Beryllium Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HLA-DPB1 NM_002121.5(HLA-DPB1): c.292A> G (p.Lys98Glu) single nucleotide variant risk factor rs1042140 GRCh37 Chromosome 6, 33048640: 33048640
2 HLA-DPB1 NM_002121.5(HLA-DPB1): c.292A> G (p.Lys98Glu) single nucleotide variant risk factor rs1042140 GRCh38 Chromosome 6, 33080863: 33080863

Expression for Chronic Beryllium Disease

Search GEO for disease gene expression data for Chronic Beryllium Disease.

Pathways for Chronic Beryllium Disease

Pathways related to Chronic Beryllium Disease according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
2
Show member pathways
13.51 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
3
Show member pathways
13.12 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
4
Show member pathways
12.99 HLA-DPA1 HLA-DQB1 HLA-DRB1 IFNG TNF
5
Show member pathways
12.62 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
6
Show member pathways
12.4 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
7
Show member pathways
12.37 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG
8
Show member pathways
12.34 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
9
Show member pathways
12.24 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
10 12.2 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
11
Show member pathways
12.18 HLA-DPA1 HLA-DQB1 HLA-DRB1
12
Show member pathways
12.11 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
13 12.04 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
14 11.99 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
15
Show member pathways
11.9 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
16
Show member pathways
11.85 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
17
Show member pathways
11.84 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
18 11.83 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
19 11.81 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
20 11.69 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
21 11.64 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
22 11.63 HLA-DPA1 HLA-DQB1 HLA-DRB1
23
Show member pathways
11.57 IFNG TNF
24 11.57 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
25 11.55 IFNG TNF
26 11.53 IFNG TNF
27
Show member pathways
11.48 IFNG TNF
28
Show member pathways
11.46 IFNG TNF
29 11.43 IFNG TNF
30 11.4 HLA-DPA1 HLA-DQB1 HLA-DRB1
31 11.37 IFNG TNF
32
Show member pathways
11.36 IFNG TNF
33 11.35 IFNG TNF
34 11.34 IFNG TNF
35 11.33 IFNG TNF
36 11.3 IFNG TNF
37 11.21 IFNG TNF
38 11.21 HLA-DRB1 IFNG TNF
39 11.14 IFNG TNF
40 11.08 HLA-DRB1 IFNG
41 11.06 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF

GO Terms for Chronic Beryllium Disease

Cellular components related to Chronic Beryllium Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 HLA-DPA1 HLA-DPB1 HLA-DRB1 TNF
2 Golgi membrane GO:0000139 9.78 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
3 lysosomal membrane GO:0005765 9.76 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
4 endosome membrane GO:0010008 9.73 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
5 trans-Golgi network membrane GO:0032588 9.71 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
6 lysosome GO:0005764 9.69 HLA-DPA1 HLA-DPB1 HLA-DRB1
7 endocytic vesicle membrane GO:0030666 9.67 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
8 ER to Golgi transport vesicle membrane GO:0012507 9.62 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
9 transport vesicle membrane GO:0030658 9.56 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
10 clathrin-coated endocytic vesicle membrane GO:0030669 9.46 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.26 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
12 MHC class II protein complex GO:0042613 8.92 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1

Biological processes related to Chronic Beryllium Disease according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.67 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
2 immune response GO:0006955 9.63 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.62 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
4 positive regulation of interferon-gamma production GO:0032729 9.61 HLA-DPA1 HLA-DPB1 TNF
5 regulation of insulin secretion GO:0050796 9.6 IFNG TNF
6 positive regulation of T cell proliferation GO:0042102 9.59 HLA-DPA1 HLA-DPB1
7 humoral immune response GO:0006959 9.58 IFNG TNF
8 positive regulation of protein localization to plasma membrane GO:1903078 9.58 IFNG TNF
9 extrinsic apoptotic signaling pathway GO:0097191 9.57 IFNG TNF
10 positive regulation of nitric oxide biosynthetic process GO:0045429 9.56 IFNG TNF
11 antigen processing and presentation GO:0019882 9.56 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
12 positive regulation of protein complex assembly GO:0031334 9.55 IFNG TNF
13 positive regulation of T cell activation GO:0050870 9.54 HLA-DPA1 HLA-DPB1
14 positive regulation of osteoclast differentiation GO:0045672 9.52 IFNG TNF
15 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.51 IFNG TNF
16 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.49 HLA-DQB1 HLA-DRB1
17 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DQB1 HLA-DRB1
18 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 IFNG TNF
19 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 IFNG TNF
20 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.26 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
21 interferon-gamma-mediated signaling pathway GO:0060333 9.02 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG

Molecular functions related to Chronic Beryllium Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 9.13 HLA-DPA1 HLA-DQB1 HLA-DRB1
2 peptide antigen binding GO:0042605 8.92 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1

Sources for Chronic Beryllium Disease

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
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