MCID: HVY001
MIFTS: 40

Heavy Chain Disease

Categories: Blood diseases, Rare diseases, Immune diseases, Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Heavy Chain Disease

MalaCards integrated aliases for Heavy Chain Disease:

Name: Heavy Chain Disease 12 59 44 15 73
Hcd 59

Characteristics:

Orphanet epidemiological data:

59
heavy chain disease
Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060125
ICD10 33 C88.2
MeSH 44 D006362
Orphanet 59 ORPHA86864
MESH via Orphanet 45 D006362
UMLS via Orphanet 74 C0018852
ICD10 via Orphanet 34 C88.2 C88.3

Summaries for Heavy Chain Disease

Disease Ontology : 12 A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.

MalaCards based summary : Heavy Chain Disease, also known as hcd, is related to alpha chain disease and agammaglobulinemia. An important gene associated with Heavy Chain Disease is IGHG3 (Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)), and among its related pathways/superpathways are NF-kappaB Signaling and IL4-mediated signaling events. The drugs Bortezomib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include small intestine, t cells and testes.

Wikipedia : 76 Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the... more...

Related Diseases for Heavy Chain Disease

Diseases in the Heavy Chain Disease family:

Gamma Heavy Chain Disease Alpha-Heavy Chain Disease

Diseases related to Heavy Chain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 alpha chain disease 31.9 CD40LG CD79A
2 agammaglobulinemia 31.4 CD40LG CD79A
3 gamma heavy chain disease 30.5 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
4 lymphoplasmacytic lymphoma 29.8 CD40LG MYD88
5 cryoglobulinemia 29.5 CD40LG CD79A
6 plasma cell neoplasm 29.4 CD40LG CD79A
7 macroglobulinemia 29.3 CD40LG MYD88
8 alpha-heavy chain disease 12.3
9 mu chain disease 11.3
10 myosinopathies 11.1
11 delta chain disease 10.9
12 lymphoma 10.3
13 arthritis 10.0
14 selective igg deficiency disease 10.0 CD40LG CD79A
15 c1q nephropathy 10.0 CD40LG CD79A
16 meningovascular neurosyphilis 10.0 CD40LG CD79A
17 brill-zinsser disease 10.0 CD40LG CD79A
18 exudative glomerulonephritis 10.0 CD40LG CD79A
19 cork-handlers' disease 10.0 CD40LG CD79A
20 salpingo-oophoritis 10.0 CD40LG CD79A
21 early yaws 10.0 CD40LG CD79A
22 ventilation pneumonitis 10.0 CD40LG CD79A
23 chronic interstitial cystitis 10.0 CD40LG CD79A
24 axillary adenitis 10.0 CD40LG CD79A
25 cryofibrinogenemia 10.0 CD40LG CD79A
26 trichostrongyloidiasis 10.0 CD40LG CD79A
27 subacute bacterial endocarditis 10.0 CD40LG CD79A
28 heterophyiasis 10.0 CD40LG CD79A
29 immunoglobulin g deficiency 10.0 CD40LG CD79A
30 orbital granuloma 10.0 CD40LG CD79A
31 transient hypogammaglobulinemia of infancy 10.0 CD40LG CD79A
32 hyperglobulinemic purpura 10.0 CD40LG CD79A
33 gastroduodenitis 10.0 CD40LG CD79A
34 bacterial conjunctivitis 10.0 CD40LG CD79A
35 ophthalmia neonatorum 10.0 CD40LG CD79A
36 immunoglobulin a deficiency 1 10.0 CD40LG CD79A
37 parotid disease 10.0 CD40LG CD79A
38 cerebral arteritis 10.0 CD40LG CD79A
39 selective immunoglobulin deficiency disease 10.0 CD40LG CD79A
40 geniculate herpes zoster 10.0 CD40LG CD79A
41 erythema elevatum diutinum 10.0 CD40LG CD79A
42 sporotrichosis 10.0 CD40LG CD79A
43 fallopian tube disease 10.0 CD40LG CD79A
44 hyperimmunoglobulin syndrome 10.0 CD40LG CD79A
45 congenital syphilis 10.0 CD40LG CD79A
46 polyclonal hypergammaglobulinemia 10.0 CD40LG CD79A
47 salpingitis 10.0 CD40LG CD79A
48 ocular toxoplasmosis 10.0 CD40LG CD79A
49 dysgammaglobulinemia 10.0 CD40LG CD79A
50 congenital hypogammaglobulinemia 10.0 CD40LG CD79A

Graphical network of the top 20 diseases related to Heavy Chain Disease:



Diseases related to Heavy Chain Disease

Symptoms & Phenotypes for Heavy Chain Disease

Drugs & Therapeutics for Heavy Chain Disease

Drugs for Heavy Chain Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3
3 Myeloma Proteins Phase 2
4 Angiogenesis Inhibitors Phase 2
5 Angiogenesis Modulating Agents Phase 2
6 Paraproteins Phase 2
7 Immunoglobulin A Phase 2
8 Immunoglobulin M Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed/Refractory Multiple Myeloma Completed NCT00464178 Phase 2 Bortezomilb

Search NIH Clinical Center for Heavy Chain Disease

Cochrane evidence based reviews: heavy chain disease

Genetic Tests for Heavy Chain Disease

Anatomical Context for Heavy Chain Disease

MalaCards organs/tissues related to Heavy Chain Disease:

41
Small Intestine, T Cells, Testes, Thyroid, B Cells, Skin, Lymph Node

Publications for Heavy Chain Disease

Articles related to Heavy Chain Disease:

(show top 50) (show all 195)
# Title Authors Year
1
Heavy Chain Disease of the Small Bowel. ( 29372346 )
2018
2
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
3
Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )
2018
4
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. ( 29472805 )
2018
5
Heavy chain disease: our experience. ( 28665788 )
2017
6
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
7
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
8
T cell receptor rearrangements in a patient with I^-heavy chain disease: A case report. ( 27313757 )
2016
9
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
10
Franklin's disease: immunoglobulin heavy chain disease. ( 27358869 )
2015
11
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
12
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
13
Alpha heavy chain disease: a rare lymphoma hard to diagnose. ( 25125965 )
2014
14
Severe enteropathy caused by I+-heavy chain disease lacking detectable M-proteins. ( 24633028 )
2014
15
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
16
Analysis of patients with I^-heavy chain disease by the heavy/light chain and free light chain assays. ( 24327529 )
2013
17
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
18
Gamma heavy chain disease in a patient with underlying lymphoplasmacytic lymphoma of the thyroid. Report of a case and comparison with other reported cases with thyroid involvement. ( 22561184 )
2012
19
Successful treatment of I^-heavy-chain disease with rituximab and fludarabine. ( 22890122 )
2012
20
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
21
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
22
Capillary immunotyping electrophoresis and high resolution two-dimensional electrophoresis for the detection of mu-heavy chain disease. ( 18036562 )
2008
23
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
24
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
25
Hypertrophic spinal pachymeningitis associated with heavy-chain disease. Case report. ( 17933324 )
2007
26
Multiple extranodal tumors in mu-heavy chain disease. ( 17050207 )
2006
27
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
28
Heavy chain disease can be detected by capillary zone electrophoresis. ( 15613723 )
2005
29
Detection of heavy chain disease by capillary zone electrophoresis. ( 15976121 )
2005
30
Mu-heavy chain disease associated with systemic amyloidosis. ( 15203869 )
2004
31
A 59-year-old woman with immunotactoid glomerulopathy, heavy-chain disease, and non-hodgkin lymphoma. ( 15163227 )
2004
32
Successful treatment of mu-heavy chain disease with fludarabine monophosphate: a case report. ( 15005347 )
2004
33
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
34
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
35
Heavy chain disease. ( 12057070 )
2002
36
Test and teach. Laboratory characterisation of paraproteins. Heavy chain disease. ( 11523944 )
2001
37
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
38
Alpha heavy chain disease in a child. ( 10881592 )
2000
39
Gamma heavy chain disease in man: independent structural abnormalities and reduced transcription of a functionally rearranged lambda L-chain gene result in the absence of L-chains. ( 10950937 )
2000
40
Test and teach. Number One hundred and four. Mu heavy chain disease (mu-HCD). ( 10968396 )
2000
41
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
42
Alpha-heavy chain disease, Mediterranean lymphoma, and immunoproliferative small intestinal disease: a review of clinicopathological features, pathogenesis, and differential diagnosis. ( 10235185 )
1999
43
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
44
Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease. ( 9482908 )
1998
45
A case of mu heavy-chain disease associated with hyperglobulinemia, anemia, and a positive Coombs test. ( 9858149 )
1998
46
A case of mu-heavy chain disease: combined features of mu-chain disease and macroglobulinemia. ( 9401282 )
1997
47
Cast nephropathy in mu heavy chain disease. ( 9285150 )
1997
48
Failure of anti-lambda immunofixation reagent mimics alpha heavy-chain disease. ( 7813064 )
1995
49
Pre-B-cell development in the absence of lambda 5 in transgenic mice expressing a heavy-chain disease protein. ( 8548286 )
1995
50
Malabsorption associated with a high-grade-malignant non-Hodgkin's lymphoma, alpha-heavy-chain disease and immunoproliferative small intestinal disease. ( 7793120 )
1995

Variations for Heavy Chain Disease

Expression for Heavy Chain Disease

Search GEO for disease gene expression data for Heavy Chain Disease.

Pathways for Heavy Chain Disease

Pathways related to Heavy Chain Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.65 CD40LG CD79A MYD88
2 11.06 CD40LG IGHG3
3 10.85 CD40LG MYD88
4 10.19 CD40LG CD79A

GO Terms for Heavy Chain Disease

Cellular components related to Heavy Chain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD40LG CD79A IGHG3

Biological processes related to Heavy Chain Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 8.96 CD40LG CD79A
2 B cell proliferation GO:0042100 8.62 CD40LG CD79A

Sources for Heavy Chain 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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