MCID: CHR576
MIFTS: 46

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 59
Beryllium Disease, Chronic, Susceptibility to 13 6
Chronic Berylliosis 59 73
Chronic Beryllium Lung Disease 59
Beryllium Disease Chronic 55
Berylliosis 59

Characteristics:

Orphanet epidemiological data:

59
chronic beryllium disease
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Orphanet 59 ORPHA133
UMLS via Orphanet 74 C0221052 C0005138
MESH via Orphanet 45 D001607
ICD10 via Orphanet 34 J63.2
UMLS 73 C0221052

Summaries for Chronic Beryllium Disease

MalaCards based summary : Chronic Beryllium Disease, also known as beryllium disease, chronic, susceptibility to, 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 Mesalamine have been mentioned in the context of this disorder. Affiliated tissues include lung, t cells and testes.

Wikipedia : 76 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 178)
# Related Disease Score Top Affiliating Genes
1 beryllium disease 31.8 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
2 berylliosis 31.8 HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNG
3 rheumatic fever 30.1 HLA-DRB1 TNF
4 pulmonary sarcoidosis 30.1 IFNG TNF
5 silicosis 10.2
6 myelitis 10.2 HLA-DPB1 TNF
7 neuromyelitis optica 10.1 HLA-DPB1 HLA-DRB1
8 asbestosis 10.1
9 microscopic polyangiitis 10.1 HLA-DRB1 TNF
10 anca-associated vasculitis 10.1 HLA-DRB1 TNF
11 eosinophilia-myalgia syndrome 10.1 HLA-DRB1 IFNG
12 actinic prurigo 10.1 HLA-DRB1 TNF
13 sympathetic ophthalmia 10.1 HLA-DRB1 TNF
14 nontuberculous mycobacterial lung disease 10.1 HLA-DRB1 TNF
15 rheumatoid vasculitis 10.1 HLA-DRB1 TNF
16 histoplasmosis 10.1 HLA-DRB1 IFNG
17 chronic inflammatory demyelinating polyradiculoneuropathy 10.1 HLA-DRB1 IFNG
18 polyradiculoneuropathy 10.1 HLA-DRB1 IFNG
19 alveolar echinococcosis 10.1 HLA-DRB1 TNF
20 dengue shock syndrome 10.1 HLA-DRB1 TNF
21 palindromic rheumatism 10.1 HLA-DRB1 TNF
22 staphylococcal toxic shock syndrome 10.1 IFNG TNF
23 toxic shock syndrome 10.1 IFNG TNF
24 autoimmune myocarditis 10.1 IFNG TNF
25 idiopathic neutropenia 10.1 HLA-DRB1 TNF
26 trichosporonosis 10.1 IFNG TNF
27 scleritis 10.1 IFNG TNF
28 miliary tuberculosis 10.1 IFNG TNF
29 hemorrhagic fever with renal syndrome 10.1 HLA-DRB1 TNF
30 chronic graft versus host disease 10.1 IFNG TNF
31 clonorchiasis 10.1 IFNG TNF
32 crohn's colitis 10.1 IFNG TNF
33 limbic encephalitis with lgi1 antibodies 10.1 HLA-DQB1 HLA-DRB1
34 meconium aspiration syndrome 10.1 IFNG TNF
35 soft tissue sarcoma 10.1 IFNG TNF
36 rheumatic heart disease 10.1 HLA-DRB1 TNF
37 narcolepsy 2 10.1 HLA-DQB1 HLA-DRB1
38 tuberculous peritonitis 10.1 IFNG TNF
39 optic neuritis 10.1 HLA-DRB1 TNF
40 autoimmune polyglandular syndrome type 3 10.1 HLA-DQB1 HLA-DRB1
41 hypersomnia 10.1 HLA-DQB1 HLA-DRB1
42 intermediate uveitis 10.1 IFNG TNF
43 orofacial granulomatosis 10.1 IFNG TNF
44 metal allergy 10.1 HLA-DQB1 HLA-DRB1
45 primary systemic mycosis 10.1 IFNG TNF
46 lichen planopilaris 10.1 HLA-DQB1 HLA-DRB1
47 posterior uveitis 10.1 IFNG TNF
48 mycoplasma pneumoniae pneumonia 10.1 IFNG TNF
49 primary progressive multiple sclerosis 10.1 HLA-DRB1 TNF
50 type ii mixed cryoglobulinemia 10.1 HLA-DQB1 HLA-DRB1

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 Mesalamine Phase 1, Phase 2 89-57-6
3 Analgesics Phase 1, Phase 2
4 Peripheral Nervous System Agents Phase 1, Phase 2
5 Analgesics, Non-Narcotic Phase 1, Phase 2
6 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
7 Anti-Inflammatory Agents Phase 1, Phase 2
8 Antirheumatic Agents Phase 1, Phase 2,Phase 2
9 Dermatologic Agents Phase 1, Phase 2
10 Gastrointestinal Agents Phase 1, Phase 2
11
Heparin Approved, Investigational 9005-49-6 772 46507594
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:

41
Lung, T Cells, Testes, Bone, Heart, Spinal Cord, Tonsil

Publications for Chronic Beryllium Disease

Articles related to Chronic Beryllium Disease:

(show top 50) (show all 181)
# Title Authors Year
1
A Pilot Study Assessing the Ability of 5-Aminosalicylic Acid to Modulate the Immune Response in Chronic Beryllium Disease. ( 29676640 )
2018
2
5-Aminosalicylic Acid Modulates the Immune Response in Chronic Beryllium Disease Subjects. ( 29080069 )
2018
3
Effect of inhaled corticosteroids on lung function in chronic beryllium disease. ( 29453139 )
2018
4
Polymorphism of FCGR3A gene in chronic beryllium disease. ( 30245507 )
2018
5
Berylliosis (Chronic Beryllium Disease) ( 29261866 )
2017
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
Beryllium Biobank 3: considerations for improving chronic beryllium disease screening. ( 25099414 )
2014
11
Sarcoidosis and chronic beryllium disease: similarities and differences. ( 25007084 )
2014
12
Chronic Beryllium Disease: revealing the role of beryllium ion and small peptides binding to HLA-DP2. ( 25369028 )
2014
13
An official American Thoracic Society statement: diagnosis and management of beryllium sensitivity and chronic beryllium disease. ( 25398119 )
2014
14
Exposure factors associated with chronic beryllium disease development in Beryllium BioBank participants. ( 25099412 )
2014
15
Identification of beryllium-dependent peptides recognized by CD4+ T cells in chronic beryllium disease. ( 23797096 )
2013
16
Chronic beryllium disease: azathioprine as a possible alternative to corticosteroid treatment. ( 23277520 )
2013
17
Impaired function of CTLA-4 in the lungs of patients with chronic beryllium disease contributes to persistent inflammation. ( 23851684 )
2013
18
Systematic review: Progression of beryllium sensitization to chronic beryllium disease. ( 22705916 )
2012
19
Infliximab therapy modulates an antigen-specific immune response in chronic beryllium disease. ( 22974830 )
2012
20
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 2: validation of historical exposures. ( 21847507 )
2012
21
Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove. ( 22972925 )
2012
22
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 1: historical exposure reconstruction. ( 21850365 )
2012
23
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 3: exposure-response among short-term workers. ( 21877099 )
2012
24
Risk of chronic beryllium disease by HLA-DPB1 E69 genotype and beryllium exposure in nuclear workers. ( 21471109 )
2011
25
Search for chronic beryllium disease among sarcoidosis patients in Ontario, Canada. ( 21400234 )
2011
26
Exposure and genetics increase risk of beryllium sensitisation and chronic beryllium disease in the nuclear weapons industry. ( 21460389 )
2011
27
SELDI-TOF derived serum biomarkers failed to differentiate between patients with beryllium sensitisation and patients with chronic beryllium disease. ( 21278142 )
2011
28
Chronic beryllium disease: an updated model interaction between innate and acquired immunity. ( 20981472 )
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
Low prevalence of chronic beryllium disease among workers at a nuclear weapons research and development facility. ( 20523233 )
2010
32
Chronic beryllium disease: computed tomographic findings. ( 21084914 )
2010
33
Recent advances in understanding the biomolecular basis of chronic beryllium disease: a review. ( 19658317 )
2009
34
High extracellular induced sputum haem oxygenase-1 in sarcoidosis and chronic beryllium disease. ( 19453654 )
2009
35
Recent chronic beryllium disease in residents surrounding a beryllium facility: patients' information. ( 19119155 )
2009
36
Progression from beryllium exposure to chronic beryllium disease: an analytic model. ( 19590692 )
2009
37
Current treatment of chronic beryllium disease. ( 19894178 )
2009
38
Long-term complications and prognosis of chronic beryllium disease. ( 19960785 )
2009
39
4-1BB enhances proliferation of beryllium-specific T cells in the lung of subjects with chronic beryllium disease. ( 18768897 )
2008
40
Up-regulation of programmed death-1 expression on beryllium-specific CD4+ T cells in chronic beryllium disease. ( 18250483 )
2008
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
Immunology of chronic beryllium disease. ( 18317020 )
2008
45
Chronic beryllium disease: risk from low-level exposure. ( 18434330 )
2008
46
The bioinorganic chemistry and associated immunology of chronic beryllium disease. ( 18566702 )
2008
47
Justification for screening for chronic beryllium disease: closer to reality. ( 18757694 )
2008
48
Short- and long-term response to corticosteroid therapy in chronic beryllium disease. ( 18757698 )
2008
49
TGF-beta 1 variants in chronic beryllium disease and sarcoidosis. ( 17785866 )
2007
50
BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. ( 17927685 )
2007

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
2
Show member pathways
13.52 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
3
Show member pathways
13.14 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
4
Show member pathways
13 HLA-DPA1 HLA-DQB1 HLA-DRB1 IFNG TNF
5
Show member pathways
12.67 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
6
Show member pathways
12.57 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
7
Show member pathways
12.4 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG
8
Show member pathways
12.4 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
9
Show member pathways
12.34 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
10 12.3 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
11
Show member pathways
12.25 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
12
Show member pathways
12.19 HLA-DPA1 HLA-DQB1 HLA-DRB1
13
Show member pathways
12.13 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
14 12.13 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
15 12.06 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
16 12.01 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
17
Show member pathways
11.9 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
18
Show member pathways
11.87 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
19
Show member pathways
11.86 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
20 11.85 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
21 11.84 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
22 11.69 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
23 11.64 HLA-DPA1 HLA-DQB1 HLA-DRB1
24 11.64 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
25
Show member pathways
11.57 IFNG TNF
26 11.56 IFNG TNF
27 11.54 IFNG TNF
28 11.53 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
29
Show member pathways
11.48 IFNG TNF
30
Show member pathways
11.46 IFNG TNF
31 11.44 IFNG TNF
32 11.41 HLA-DPA1 HLA-DQB1 HLA-DRB1
33 11.38 IFNG TNF
34
Show member pathways
11.37 IFNG TNF
35 11.36 IFNG TNF
36 11.34 IFNG TNF
37 11.34 IFNG TNF
38 11.31 IFNG TNF
39 11.22 HLA-DRB1 IFNG TNF
40 11.19 IFNG TNF
41 11.15 IFNG TNF
42 11.09 HLA-DRB1 IFNG
43 11.05 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 22)
# 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 regulation of insulin secretion GO:0050796 9.61 IFNG TNF
5 positive regulation of interferon-gamma production GO:0032729 9.61 HLA-DPA1 HLA-DPB1 TNF
6 positive regulation of T cell proliferation GO:0042102 9.6 HLA-DPA1 HLA-DPB1
7 humoral immune response GO:0006959 9.59 IFNG TNF
8 positive regulation of protein localization to plasma membrane GO:1903078 9.58 IFNG TNF
9 extrinsic apoptotic signaling pathway GO:0097191 9.58 IFNG TNF
10 positive regulation of nitric oxide biosynthetic process GO:0045429 9.57 IFNG TNF
11 positive regulation of protein complex assembly GO:0031334 9.56 IFNG TNF
12 antigen processing and presentation GO:0019882 9.56 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
13 positive regulation of T cell activation GO:0050870 9.55 HLA-DPA1 HLA-DPB1
14 protein import into nucleus, translocation GO:0000060 9.54 IFNG TNF
15 positive regulation of osteoclast differentiation GO:0045672 9.52 IFNG TNF
16 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.51 IFNG TNF
17 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.49 HLA-DQB1 HLA-DRB1
18 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DQB1 HLA-DRB1
19 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 IFNG TNF
20 positive regulation of vitamin D biosynthetic process GO:0060557 9.4 IFNG TNF
21 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
22 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 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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