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HCD
MCID: HVY001
MIFTS: 34

Heavy Chain Disease (HCD)

Categories: Blood diseases, Gastrointestinal diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Drugs
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Aliases & Classifications for Heavy Chain Disease

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MalaCards integrated aliases for Heavy Chain Disease:

Name: Heavy Chain Disease 12 58 15 17 71
Hcd 58

Characteristics:

Orphanet epidemiological data:

58
heavy chain disease
Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060125
ICD10 32 C88.2
MESH via Orphanet 44 D006362
ICD10 via Orphanet 33 C88.2 C88.3
UMLS via Orphanet 72 C0018852
Orphanet 58 ORPHA86864
UMLS 71 C0018852 C0018854 C0242310
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Summaries for Heavy Chain Disease

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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 gamma heavy chain disease and mu chain disease. An important gene associated with Heavy Chain Disease is IGHG3 (Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)). The drugs Bevacizumab and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include small intestine, t cells and thyroid.

Wikipedia : 74 Heavy chain disease is a form of paraproteinemia and plasma cell dyscrasia that involves the... more...

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Related Diseases for Heavy Chain Disease

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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 202)
# Related Disease Score Top Affiliating Genes
1 gamma heavy chain disease 34.5 SUCO MYD88 IGHG3 CD40LG
2 mu chain disease 32.3 SUCO JCHAIN CD40LG
3 alpha chain disease 31.1 SUCO MYOM2 JCHAIN CD79A CD40LG
4 gastrointestinal lymphoma 30.2 SERPINA3 CD79A
5 marginal zone b-cell lymphoma 29.9 MYD88 CD79A CD40LG
6 lymphoma, mucosa-associated lymphoid type 29.8 MYD88 CD79A CD40LG
7 amyloidosis 29.8 SERPINA3 MYOM2 CD40LG
8 hypersensitivity reaction type iv disease 29.7 SERPINA3 CFHR2 CD40LG
9 vasculitis 29.7 SERPINA3 CD79A CD40LG
10 extramedullary plasmacytoma 29.6 MYOM2 CD79A
11 monoclonal gammopathy of uncertain significance 29.6 MYOM2 MYD88 CFHR2 CD40LG
12 iga glomerulonephritis 29.3 JCHAIN CFHR2 CD79A CD40LG
13 myeloma, multiple 29.2 SERPINA3 MYOM2 CD79A CD40LG
14 plasma cell neoplasm 29.2 SERPINA3 MYOM2 CD79A CD40LG
15 lymphoma, non-hodgkin, familial 29.1 SERPINA3 MYOM2 MYD88 CD79A CD40LG
16 alpha-heavy chain disease 12.6
17 agammaglobulinemia 11.8
18 myosinopathies 11.5
19 diaphragmatic hernia, congenital 11.4
20 delta chain disease 11.2
21 triiodothyronine receptor auxiliary protein 10.6
22 lymphoma 10.3
23 exudative glomerulonephritis 10.3 CFHR2 CD40LG
24 acrodermatitis chronica atrophicans 10.3 CFHR2 CD40LG
25 acrodermatitis 10.3 CFHR2 CD40LG
26 schnitzler syndrome 10.3 MYD88 CD40LG
27 lymphoproliferative syndrome 10.2
28 central nervous system vasculitis 10.2 SERPINA3 CD40LG
29 tularemia 10.2 MYD88 CD40LG
30 diarrhea 10.2
31 intestinal disease 10.2
32 osteosclerotic myeloma 10.2 MYOM2 CD40LG
33 non-secretory myeloma 10.2 MYOM2 CD40LG
34 ecthyma 10.2 MYOM2 CD40LG
35 relapsing fever 10.2 CFHR2 CD40LG
36 asymmetric motor neuropathy 10.2 MYOM2 CD40LG
37 autoimmune disease of urogenital tract 10.2 CFHR2 CD40LG
38 leukemia, chronic lymphocytic 10.2
39 splenomegaly 10.2
40 cecal disease 10.2 SERPINA3 CD40LG
41 mononeuritis of upper limb and mononeuritis multiplex 10.2 MYOM2 CD40LG
42 bronchopneumonia 10.2 SERPINA3 CD40LG
43 mononeuritis multiplex 10.2 MYOM2 CD40LG
44 miller fisher syndrome 10.2 MYOM2 CD40LG
45 smoldering myeloma 10.2 MYOM2 CD40LG
46 lymphoplasmacytic lymphoma 10.2
47 scarlet fever 10.2 MYOM2 CD40LG
48 streptococcus pneumonia 10.1 MYD88 CD40LG
49 pyelitis 10.1 SERPINA3 CD40LG
50 bacterial infectious disease 10.1 SERPINA3 MYD88 CD40LG

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



Diseases related to Heavy Chain Disease
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Symptoms & Phenotypes for Heavy Chain Disease

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Drugs & Therapeutics for Heavy Chain Disease

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

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

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Genetic Tests for Heavy Chain Disease

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Anatomical Context for Heavy Chain Disease

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MalaCards organs/tissues related to Heavy Chain Disease:

40
Small Intestine, T Cells, Thyroid, Testes, B Cells, Lymph Node, Skin
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Publications for Heavy Chain Disease

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Articles related to Heavy Chain Disease:

(show top 50) (show all 380)
# Title Authors PMID Year
1
γ heavy chain disease presenting in a patient with systemic lupus erythematosus. 61
32497227 2020
2
Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry. 61
31884198 2020
3
Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders. 61
32245744 2020
4
Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature. 61
32013371 2020
5
Gamma-heavy chain monoclonal gammopathy with undetermined significance (MGUS). 61
31391403 2019
6
γ Heavy chain disease. 61
30898778 2019
7
Gamma heavy chain disease (γ-HCD) as iatrogenic immunodeficiency- associated lymphoproliferative disorder: Possible emergent subtype of rheumatoid arthritis-associated γ-HCD. 61
31866621 2019
8
Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis. 61
29987858 2018
9
Interpretation Difficulties of Serum Immunofixation Test in Immunoglobulin D Multiple Myeloma with Hidden Lambda Light Chains. 61
29945318 2018
10
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. 61
29315075 2018
11
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. 61
29472805 2018
12
Heavy Chain Disease of the Small Bowel. 61
29372346 2018
13
Two Cases of γ-Heavy Chain Disease and a Review of the Literature. 61
30186642 2018
14
Heavy chain disease: our experience. 61
28665788 2017
15
Morphologic features of μ-heavy-chain disease. 61
28751360 2017
16
The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits. 61
28069266 2017
17
T cell receptor rearrangements in a patient with γ-heavy chain disease: A case report. 61
27313757 2016
18
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. 61
27237805 2016
19
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. 61
26222587 2016
20
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. 61
26875967 2016
21
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. 61
25663537 2015
22
Franklin's disease: immunoglobulin heavy chain disease. 61
27358869 2015
23
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. 61
24859878 2014
24
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. 61
25180407 2014
25
Analysis of patients with γ-heavy chain disease by the heavy/light chain and free light chain assays. 61
24327529 2014
26
Severe enteropathy caused by α-heavy chain disease lacking detectable M-proteins. 61
24633028 2014
27
Alpha heavy chain disease: a rare lymphoma hard to diagnose. 61
25125965 2014
28
The heavy chain diseases: clinical and pathologic features. 61
24683718 2014
29
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. 61
22694793 2013
30
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. 61
22561184 2012
31
Penicillium pneumonia in a patient with newly diagnosed Franklin disease. 61
22543591 2012
32
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. 61
22301495 2012
33
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. 61
23092068 2012
34
Successful treatment of γ-heavy-chain disease with rituximab and fludarabine. 61
22890122 2012
35
Marginal zone lymphomas with plasmacytic differentiation and related disorders. 61
21757594 2011
36
Renal outcome and monoclonal immunoglobulin deposition disease in 289 old patients with blood cell dyscrasias: a single center experience. 61
20570173 2011
37
A primer on clinical applications and assays using urine: focus on analysis of plasma cell dyscrasias using automated electrophoresis and immunofixation. 61
20407939 2010
38
Proteomics and detection of uromodulin in first-time renal calculi patients and recurrent renal calculi patients. 61
19145410 2009
39
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. 61
18839436 2008
40
Capillary immunotyping electrophoresis and high resolution two-dimensional electrophoresis for the detection of mu-heavy chain disease. 61
18036562 2008
41
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. 61
18348312 2008
42
Hypertrophic spinal pachymeningitis associated with heavy-chain disease. Case report. 61
17933324 2007
43
Multiple extranodal tumors in mu-heavy chain disease. 61
17050207 2006
44
[Alpha heavy chain disease. A Tunisian case]. 61
17263208 2006
45
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. 61
16536920 2006
46
Heavy-chain-only antibody expression and B-cell development in the mouse. 61
17341184 2006
47
Low-grade B-Cell lymphomas with plasmacytic differentiation lack PAX5 gene rearrangements. 61
16049306 2005
48
Detection of heavy chain disease by capillary zone electrophoresis. 61
15976121 2005
49
A case report: isolated a heavy chain monoclonal gammopathy in a patient with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin change syndrome. 61
15875614 2005
50
A case of congenital cutis laxa (generalized elastolysis). 61
15875069 2005
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Variations for Heavy Chain Disease

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Expression for Heavy Chain Disease

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

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GO Terms for Heavy Chain Disease

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.8 SERPINA3 JCHAIN IGHG3

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

# Name GO ID Score Top Affiliating Genes
1 B cell proliferation GO:0042100 8.62 CD79A CD40LG
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Sources for Heavy Chain Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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