MCID: CHR576
MIFTS: 43

Chronic Beryllium Disease

Categories: Respiratory diseases, Rare 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 berylliosis and pulmonary sarcoidosis. 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 skin.

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 158)
# Related Disease Score Top Affiliating Genes
1 berylliosis 30.5 HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNG
2 pulmonary sarcoidosis 30.1 IFNG TNF
3 beryllium disease 29.6 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
4 neuromyelitis optica 10.5 HLA-DPB1 HLA-DRB1
5 myelitis 10.4 HLA-DPB1 TNF
6 microscopic polyangiitis 10.4 HLA-DRB1 TNF
7 anca-associated vasculitis 10.4 HLA-DRB1 TNF
8 eosinophilia-myalgia syndrome 10.4 HLA-DRB1 IFNG
9 actinic prurigo 10.4 HLA-DRB1 TNF
10 sympathetic ophthalmia 10.4 HLA-DRB1 TNF
11 nontuberculous mycobacterial lung disease 10.4 HLA-DRB1 TNF
12 central nervous system vasculitis 10.4 HLA-DRB1 TNF
13 rheumatoid vasculitis 10.4 HLA-DRB1 TNF
14 histoplasmosis 10.4 HLA-DRB1 IFNG
15 alveolar echinococcosis 10.4 HLA-DRB1 TNF
16 palindromic rheumatism 10.3 HLA-DRB1 TNF
17 hemorrhagic fever with renal syndrome 10.3 HLA-DRB1 TNF
18 rheumatic fever 10.3 HLA-DRB1 TNF
19 staphylococcal toxic shock syndrome 10.3 IFNG TNF
20 autoimmune myocarditis 10.3 IFNG TNF
21 trichosporonosis 10.3 IFNG TNF
22 idiopathic neutropenia 10.3 HLA-DRB1 TNF
23 rheumatic heart disease 10.3 HLA-DRB1 TNF
24 clonorchiasis 10.3 IFNG TNF
25 crohn's colitis 10.3 IFNG TNF
26 limbic encephalitis with lgi1 antibodies 10.3 HLA-DQB1 HLA-DRB1
27 meconium aspiration syndrome 10.3 IFNG TNF
28 optic neuritis 10.3 HLA-DRB1 TNF
29 soft tissue sarcoma 10.3 IFNG TNF
30 posterior uveitis 10.3 IFNG TNF
31 tuberculous peritonitis 10.3 IFNG TNF
32 primary systemic mycosis 10.3 IFNG TNF
33 poliomyelitis 10.3 IFNG TNF
34 metal allergy 10.3 HLA-DQB1 HLA-DRB1
35 focal epithelial hyperplasia 10.3 HLA-DQB1 HLA-DRB1
36 intermediate uveitis 10.3 IFNG TNF
37 hypersomnia 10.3 HLA-DQB1 HLA-DRB1
38 orofacial granulomatosis 10.3 IFNG TNF
39 lichen planopilaris 10.3 HLA-DQB1 HLA-DRB1
40 coccidiosis 10.3 IFNG TNF
41 eales disease 10.3 IFNG TNF
42 type ii mixed cryoglobulinemia 10.3 HLA-DQB1 HLA-DRB1
43 recurrent respiratory papillomatosis 10.3 HLA-DQB1 HLA-DRB1
44 erythema multiforme 10.3 IFNG TNF
45 pleural tuberculosis 10.3 IFNG TNF
46 pityriasis rosea 10.3 HLA-DQB1 HLA-DRB1
47 spotted fever 10.3 IFNG TNF
48 whipple disease 10.3 HLA-DQB1 HLA-DRB1
49 hematopoietic stem cell transplantation 10.3 IFNG TNF
50 pediatric multiple sclerosis 10.3 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 Analgesics, Non-Narcotic Phase 1, Phase 2
5 Peripheral Nervous System Agents Phase 1, Phase 2
6 Anti-Inflammatory Agents Phase 1, Phase 2
7 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
8 Antirheumatic Agents Phase 1, Phase 2,Phase 2
9 Gastrointestinal Agents Phase 1, Phase 2
10 Dermatologic Agents Phase 1, Phase 2
11
Heparin Approved, Investigational 9005-49-6 772 46507594
12 calcium heparin
13 Pharmaceutical Solutions

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 Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis Completed NCT00560989
4 The Role of JAK2 in Alveolar Macrophages (AM's) in Chronic Beryllium Disease (CBD) Recruiting NCT02596347
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, Skin

Publications for Chronic Beryllium Disease

Articles related to Chronic Beryllium Disease:

(show top 50) (show all 68)
# 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
Berylliosis (Chronic Beryllium Disease) ( 29261866 )
2017
5
Chronic Beryllium Disease: The Search for a Dose-Response. ( 27820771 )
2016
6
Beryllium increases the CD14(dim)CD16+ subset in the lung of chronic beryllium disease. ( 25689051 )
2015
7
Identification of multiple public TCR repertoires in chronic beryllium disease. ( 24719461 )
2014
8
Structural basis of chronic beryllium disease: linking allergic hypersensitivity and autoimmunity. ( 24995984 )
2014
9
Beryllium Biobank 3: considerations for improving chronic beryllium disease screening. ( 25099414 )
2014
10
Sarcoidosis and chronic beryllium disease: similarities and differences. ( 25007084 )
2014
11
Chronic Beryllium Disease: revealing the role of beryllium ion and small peptides binding to HLA-DP2. ( 25369028 )
2014
12
An official American Thoracic Society statement: diagnosis and management of beryllium sensitivity and chronic beryllium disease. ( 25398119 )
2014
13
Exposure factors associated with chronic beryllium disease development in Beryllium BioBank participants. ( 25099412 )
2014
14
Identification of beryllium-dependent peptides recognized by CD4+ T cells in chronic beryllium disease. ( 23797096 )
2013
15
Chronic beryllium disease: azathioprine as a possible alternative to corticosteroid treatment. ( 23277520 )
2013
16
Impaired function of CTLA-4 in the lungs of patients with chronic beryllium disease contributes to persistent inflammation. ( 23851684 )
2013
17
Systematic review: Progression of beryllium sensitization to chronic beryllium disease. ( 22705916 )
2012
18
Infliximab therapy modulates an antigen-specific immune response in chronic beryllium disease. ( 22974830 )
2012
19
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 2: validation of historical exposures. ( 21847507 )
2012
20
Chronic beryllium disease, HLA-DPB1, and the DP peptide binding groove. ( 22972925 )
2012
21
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 1: historical exposure reconstruction. ( 21850365 )
2012
22
Sensitization and chronic beryllium disease at a primary manufacturing facility, part 3: exposure-response among short-term workers. ( 21877099 )
2012
23
Risk of chronic beryllium disease by HLA-DPB1 E69 genotype and beryllium exposure in nuclear workers. ( 21471109 )
2011
24
Search for chronic beryllium disease among sarcoidosis patients in Ontario, Canada. ( 21400234 )
2011
25
Exposure and genetics increase risk of beryllium sensitisation and chronic beryllium disease in the nuclear weapons industry. ( 21460389 )
2011
26
Crystal structure of HLA-DP2 and implications for chronic beryllium disease. ( 20356827 )
2010
27
Association between IL-1A single nucleotide polymorphisms and chronic beryllium disease and beryllium sensitization. ( 20595916 )
2010
28
Recent advances in understanding the biomolecular basis of chronic beryllium disease: a review. ( 19658317 )
2009
29
High extracellular induced sputum haem oxygenase-1 in sarcoidosis and chronic beryllium disease. ( 19453654 )
2009
30
4-1BB enhances proliferation of beryllium-specific T cells in the lung of subjects with chronic beryllium disease. ( 18768897 )
2008
31
Up-regulation of programmed death-1 expression on beryllium-specific CD4+ T cells in chronic beryllium disease. ( 18250483 )
2008
32
TGF-beta 1 variants in chronic beryllium disease and sarcoidosis. ( 17785866 )
2007
33
BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. ( 17927685 )
2007
34
TNF polymorphism and bronchoalveolar lavage cell TNF-alpha levels in chronic beryllium disease and beryllium sensitization. ( 17208287 )
2007
35
Beryllium-induced TNF-alpha production is transcription-dependent in chronic beryllium disease. ( 16980557 )
2007
36
A quantitative proteomic analysis of soluble bronchoalveolar fluid proteins from patients with sarcoidosis and chronic beryllium disease. ( 18069416 )
2007
37
TNF-alpha polymorphisms in chronic beryllium disease and beryllium sensitization. ( 17426528 )
2007
38
Self-presentation of beryllium by BAL CD4+ T cells: T cell-T cell interactions and their potential role in chronic beryllium disease. ( 16552706 )
2006
39
Chronic beryllium disease and glutathione biosynthesis genes. ( 16766924 )
2006
40
Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease. ( 15750822 )
2005
41
[Chronic beryllium disease: a model of interaction between environmental exposure and genetic predisposition. Pathogenesis and clinical features (Part 2)]. ( 16092165 )
2005
42
Activation pathways implicate anti-HLA-DP and anti-LFA-1 antibodies as lead candidates for intervention in chronic berylliosis. ( 15778396 )
2005
43
Chronic beryllium disease: a model for pulmonary sarcoidosis? ( 16350545 )
2005
44
The association between HLA-DPB1Glu69 and chronic beryllium disease and beryllium sensitization. ( 15273960 )
2004
45
Influence of MHC class II in susceptibility to beryllium sensitization and chronic beryllium disease. ( 14662898 )
2003
46
Is chronic beryllium disease sarcoidosis of known etiology? ( 12870719 )
2003
47
Skin as a route of exposure and sensitization in chronic beryllium disease. ( 12842774 )
2003
48
HLA-DPB1 and chronic beryllium disease: a HuGE review. ( 12615603 )
2003
49
Nitric oxide attenuates beryllium-induced IFNgamma responses in chronic beryllium disease: evidence for mechanisms independent of IL-18. ( 12027422 )
2002
50
Genetic and exposure risks for chronic beryllium disease. ( 12516537 )
2002

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
13.14 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
4
Show member pathways
12.65 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
5
Show member pathways
12.55 HLA-DPA1 HLA-DQB1 HLA-DRB1
6
Show member pathways
12.53 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
7
Show member pathways
12.46 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
8
Show member pathways
12.38 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG
9 12.28 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
10
Show member pathways
12.25 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
11
Show member pathways
12.18 HLA-DPA1 HLA-DQB1 HLA-DRB1
12
Show member pathways
12.16 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
13
Show member pathways
12.12 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
14 12.11 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG
15
Show member pathways
12.07 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
16 12.06 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
17 12.01 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
18
Show member pathways
11.9 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
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 11.82 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
22 11.71 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 TNF
23 11.69 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
24 11.64 HLA-DPA1 HLA-DQB1 HLA-DRB1
25
Show member pathways
11.57 IFNG TNF
26 11.55 IFNG TNF
27 11.51 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
28
Show member pathways
11.48 IFNG TNF
29
Show member pathways
11.46 IFNG TNF
30 11.43 IFNG TNF
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 11.24 HLA-DRB1 IFNG TNF
38 11.19 IFNG TNF
39 11.14 IFNG TNF
40 11.08 HLA-DRB1 IFNG
41 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 9.71 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.67 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
3 positive regulation of interferon-gamma production GO:0032729 9.63 HLA-DPA1 HLA-DPB1 TNF
4 immune response GO:0006955 9.63 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 IFNG TNF
5 T cell costimulation GO:0031295 9.62 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
6 regulation of insulin secretion GO:0050796 9.61 IFNG TNF
7 positive regulation of T cell proliferation GO:0042102 9.6 HLA-DPA1 HLA-DPB1
8 humoral immune response GO:0006959 9.59 IFNG TNF
9 extrinsic apoptotic signaling pathway GO:0097191 9.58 IFNG TNF
10 positive regulation of nitric oxide biosynthetic process GO:0045429 9.58 IFNG TNF
11 protein import into nucleus, translocation GO:0000060 9.57 IFNG TNF
12 positive regulation of T cell activation GO:0050870 9.56 HLA-DPA1 HLA-DPB1
13 antigen processing and presentation GO:0019882 9.56 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1
14 positive regulation of protein complex assembly GO:0031334 9.55 IFNG TNF
15 positive regulation of osteoclast differentiation GO:0045672 9.54 IFNG TNF
16 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.52 IFNG TNF
17 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.51 HLA-DQB1 HLA-DRB1
18 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.49 IFNG TNF
19 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DQB1 HLA-DRB1
20 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 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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