MCID: HVY001
MIFTS: 41

Heavy Chain Disease

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

Aliases & Classifications for Heavy Chain Disease

MalaCards integrated aliases for Heavy Chain Disease:

Name: Heavy Chain Disease 12 55 41 14 69
Hcd 55

Characteristics:

Orphanet epidemiological data:

55
heavy chain disease
Age of onset: Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060125
ICD10 32 C88.2
MeSH 41 D006362
Orphanet 55 ORPHA86864
MESH via Orphanet 42 D006362
UMLS via Orphanet 70 C0018852
ICD10 via Orphanet 33 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 gamma heavy chain disease. 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 : 72 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 193)
# Related Disease Score Top Affiliating Genes
1 alpha chain disease 31.9 CD40LG CD79A
2 gamma heavy chain disease 31.8 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
3 agammaglobulinemia 31.5 CD40LG CD79A
4 lymphoplasmacytic lymphoma 29.7 CD40LG MYD88
5 cryoglobulinemia 29.6 CD40LG CD79A
6 plasma cell neoplasm 29.4 CD40LG CD79A
7 macroglobulinemia 29.4 CD40LG MYD88
8 alpha-heavy chain disease 12.3
9 mu chain disease 11.3
10 myosinopathies 11.1
11 diaphragmatic hernia, congenital 11.0
12 delta chain disease 11.0
13 lymphoma 10.3
14 arthritis 10.0
15 selective igg deficiency disease 10.0 CD40LG CD79A
16 c1q nephropathy 10.0 CD40LG CD79A
17 meningovascular neurosyphilis 10.0 CD40LG CD79A
18 brill-zinsser disease 10.0 CD40LG CD79A
19 exudative glomerulonephritis 10.0 CD40LG CD79A
20 cork-handlers' disease 10.0 CD40LG CD79A
21 salpingo-oophoritis 10.0 CD40LG CD79A
22 early yaws 10.0 CD40LG CD79A
23 ventilation pneumonitis 10.0 CD40LG CD79A
24 chronic interstitial cystitis 10.0 CD40LG CD79A
25 axillary adenitis 10.0 CD40LG CD79A
26 cryofibrinogenemia 10.0 CD40LG CD79A
27 trichostrongyloidiasis 10.0 CD40LG CD79A
28 subacute bacterial endocarditis 10.0 CD40LG CD79A
29 heterophyiasis 10.0 CD40LG CD79A
30 immunoglobulin g deficiency 10.0 CD40LG CD79A
31 orbital granuloma 10.0 CD40LG CD79A
32 transient hypogammaglobulinemia of infancy 10.0 CD40LG CD79A
33 hyperglobulinemic purpura 10.0 CD40LG CD79A
34 gastroduodenitis 10.0 CD40LG CD79A
35 bacterial conjunctivitis 10.0 CD40LG CD79A
36 ophthalmia neonatorum 10.0 CD40LG CD79A
37 immunoglobulin a deficiency 1 10.0 CD40LG CD79A
38 parotid disease 10.0 CD40LG CD79A
39 cerebral arteritis 10.0 CD40LG CD79A
40 selective immunoglobulin deficiency disease 10.0 CD40LG CD79A
41 geniculate herpes zoster 10.0 CD40LG CD79A
42 erythema elevatum diutinum 10.0 CD40LG CD79A
43 sporotrichosis 10.0 CD40LG CD79A
44 fallopian tube disease 10.0 CD40LG CD79A
45 hyperimmunoglobulin syndrome 10.0 CD40LG CD79A
46 congenital syphilis 10.0 CD40LG CD79A
47 polyclonal hypergammaglobulinemia 10.0 CD40LG CD79A
48 salpingitis 10.0 CD40LG CD79A
49 ocular toxoplasmosis 10.0 CD40LG CD79A
50 parasitic ichthyosporea infectious disease 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 Paraproteins Phase 2
6 Angiogenesis Modulating Agents Phase 2
7 Immunoglobulin A Phase 2
8 Immunoglobulin M Phase 2
9 Immunoglobulins Phase 2
10 Antibodies 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:

38
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 194)
# Title Authors Year
1
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
2
Heavy Chain Disease of the Small Bowel. ( 29372346 )
2018
3
Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update. ( 29326807 )
2018
4
Heavy chain disease: our experience. ( 28665788 )
2017
5
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
6
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
7
T cell receptor rearrangements in a patient with I^-heavy chain disease: A case report. ( 27313757 )
2016
8
Franklin's disease: immunoglobulin heavy chain disease. ( 27358869 )
2015
9
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
10
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
11
Severe enteropathy caused by I+-heavy chain disease lacking detectable M-proteins. ( 24633028 )
2014
12
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
13
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
14
Alpha heavy chain disease: a rare lymphoma hard to diagnose. ( 25125965 )
2014
15
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
16
Analysis of patients with I^-heavy chain disease by the heavy/light chain and free light chain assays. ( 24327529 )
2013
17
Successful treatment of I^-heavy-chain disease with rituximab and fludarabine. ( 22890122 )
2012
18
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
19
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
20
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
21
Capillary immunotyping electrophoresis and high resolution two-dimensional electrophoresis for the detection of mu-heavy chain disease. ( 18036562 )
2008
22
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
23
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
24
Hypertrophic spinal pachymeningitis associated with heavy-chain disease. Case report. ( 17933324 )
2007
25
Multiple extranodal tumors in mu-heavy chain disease. ( 17050207 )
2006
26
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
27
Heavy chain disease can be detected by capillary zone electrophoresis. ( 15613723 )
2005
28
Detection of heavy chain disease by capillary zone electrophoresis. ( 15976121 )
2005
29
Mu-heavy chain disease associated with systemic amyloidosis. ( 15203869 )
2004
30
Successful treatment of mu-heavy chain disease with fludarabine monophosphate: a case report. ( 15005347 )
2004
31
A 59-year-old woman with immunotactoid glomerulopathy, heavy-chain disease, and non-hodgkin lymphoma. ( 15163227 )
2004
32
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
33
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
34
Heavy chain disease. ( 12057070 )
2002
35
Test and teach. Laboratory characterisation of paraproteins. Heavy chain disease. ( 11523944 )
2001
36
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
37
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
38
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
39
Test and teach. Number One hundred and four. Mu heavy chain disease (mu-HCD). ( 10968396 )
2000
40
Alpha heavy chain disease in a child. ( 10881592 )
2000
41
Alpha-heavy chain disease, Mediterranean lymphoma, and immunoproliferative small intestinal disease: a review of clinicopathological features, pathogenesis, and differential diagnosis. ( 10235185 )
1999
42
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
43
A case of mu heavy-chain disease associated with hyperglobulinemia, anemia, and a positive Coombs test. ( 9858149 )
1998
44
Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease. ( 9482908 )
1998
45
Cast nephropathy in mu heavy chain disease. ( 9285150 )
1997
46
A case of mu-heavy chain disease: combined features of mu-chain disease and macroglobulinemia. ( 9401282 )
1997
47
Malabsorption associated with a high-grade-malignant non-Hodgkin's lymphoma, alpha-heavy-chain disease and immunoproliferative small intestinal disease. ( 7793120 )
1995
48
Pre-B-cell development in the absence of lambda 5 in transgenic mice expressing a heavy-chain disease protein. ( 8548286 )
1995
49
Failure of anti-lambda immunofixation reagent mimics alpha heavy-chain disease. ( 7813064 )
1995
50
Immunoproliferative small intestinal disease: Mediterranean lymphoma and alpha heavy chain disease. ( 8313111 )
1994

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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