MCID: GMM003
MIFTS: 47

Gamma Heavy Chain Disease

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

Aliases & Classifications for Gamma Heavy Chain Disease

MalaCards integrated aliases for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 12 53 15
Franklin Disease 53 59
Gamma Heavy Chain Deposition Disease 53
Gamma-Heavy Chain Disease 59
Igg Heavy Chain Disease 53
Gamma-Chain Disease 73
Franklin's Disease 12
Gamma-Hcd 59

Characteristics:

Orphanet epidemiological data:

59
gamma-heavy chain disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

Classifications:



Summaries for Gamma Heavy Chain Disease

NIH Rare Diseases : 53 Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body.  Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder.

MalaCards based summary : Gamma Heavy Chain Disease, also known as franklin disease, is related to heavy chain disease and leukemia, chronic lymphocytic, and has symptoms including fever An important gene associated with Gamma Heavy Chain Disease is MYD88 (MYD88, Innate Immune Signal Transduction Adaptor), and among its related pathways/superpathways are NF-kappaB Signaling and B cell receptor signaling pathway (KEGG). Affiliated tissues include bone, skin and bone marrow, and related phenotypes are dysphagia and splenomegaly

Disease Ontology : 12 A heavy chain disease that results from an overproduction of gamma antibody (IgG).

Related Diseases for Gamma Heavy Chain Disease

Diseases in the Heavy Chain Disease family:

Gamma Heavy Chain Disease Alpha-Heavy Chain Disease

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 heavy chain disease 31.1 IGHG3 MYD88 PARD3 PNMT SUCO
2 leukemia, chronic lymphocytic 29.6 CD19 CD38 NRAS PTPRC
3 heavy chain deposition disease 10.3
4 arthritis 10.2
5 lymphoma 10.2
6 leukemia 10.2
7 lymphocytic leukemia 10.2
8 testicular lymphoma 10.2 MYD88 PTPRC
9 rheumatoid arthritis 10.1
10 conventional fibrosarcoma 10.1 NRAS PTPRC
11 invasive malignant thymoma 10.1 CD19 CD38
12 b cell prolymphocytic leukemia 10.1 CD19 CD38
13 prolymphocytic leukemia 10.1 CD19 CD38
14 non-secretory myeloma 10.1 CD19 CD38
15 pleuropneumonia 10.1 CD19 MYD88
16 solitary osseous plasmacytoma 10.1 CD19 CD38
17 colon lymphoma 10.1 CD19 PTPRC
18 plasmablastic lymphoma 10.1 CD38 PTPRC
19 autoimmune lymphoproliferative syndrome, type v 10.1
20 splenomegaly 10.1
21 diffuse infiltrative lymphocytosis syndrome 10.0 CD19 CD38
22 waldenstroem's macroglobulinemia 10.0 CD19 CD38 MYD88
23 plasma protein metabolism disease 10.0 CD19 CD38 MYD88
24 monoclonal gammopathy of uncertain significance 10.0 CD19 CD38 MYD88
25 amyloidosis 10.0
26 plasma cell neoplasm 10.0 CD19 CD38 PTPRC
27 lymphatic system cancer 10.0 CD19 PTPRC
28 mature b-cell neoplasm 10.0 CD19 CD38 PTPRC
29 leukocyte disease 10.0 CD19 CD38 PTPRC
30 hodgkin's lymphoma, lymphocytic depletion 9.9 FUT4 PTPRC
31 testicular infarct 9.9 FUT4 PTPRC
32 pneumonia 9.9
33 progressive multifocal leukoencephalopathy 9.9
34 epidural neoplasm 9.9 FUT4 PTPRC
35 leukemia, chronic lymphocytic 2 9.9
36 myelodysplastic syndrome 9.9
37 follicular lymphoma 9.9
38 splenic marginal zone lymphoma 9.9
39 alpha chain disease 9.9
40 lymphoproliferative syndrome 9.9
41 angioimmunoblastic t-cell lymphoma 9.9
42 pancytopenia 9.9
43 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.9
44 leukemia, b-cell, chronic 9.9
45 muscular dystrophy white matter spongiosis 9.9
46 methotrexate-associated lymphoproliferative disorders 9.9
47 small intestine lymphoma 9.9 CBLIF CD19 PTPRC
48 granulomatous gastritis 9.9 CBLIF FUT4
49 lymphoma, hodgkin, classic 9.9 CD19 PTPRC
50 reticulohistiocytic granuloma 9.9 FUT4 PTPRC

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



Diseases related to Gamma Heavy Chain Disease

Symptoms & Phenotypes for Gamma Heavy Chain Disease

Human phenotypes related to Gamma Heavy Chain Disease:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
2 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
3 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
6 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
8 skin rash 59 32 frequent (33%) Frequent (79-30%) HP:0000988
9 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
10 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%) HP:0002716
11 abnormality of bone marrow cell morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005561
12 rheumatoid arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001370
13 autoimmune hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001890
14 autoimmune thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001973
15 neoplasm of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0100648
16 anemia 59 Frequent (79-30%)
17 autoimmunity 59 Occasional (29-5%)
18 thrombocytopenia 59 Occasional (29-5%)
19 abnormality of the palate 59 Occasional (29-5%)
20 abnormality of lymphocytes 59 Very frequent (99-80%)
21 abnormal lymphocyte morphology 32 hallmark (90%) HP:0004332
22 abnormal palate morphology 32 occasional (7.5%) HP:0000174

UMLS symptoms related to Gamma Heavy Chain Disease:


fever

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 CBLIF CD19 CD38 FUT4 MYD88 NRAS
2 hematopoietic system MP:0005397 9.96 CBLIF CD19 CD38 FUT4 MYD88 NRAS
3 cardiovascular system MP:0005385 9.95 CD19 FUT4 MYD88 NRAS PARD3 PNMT
4 growth/size/body region MP:0005378 9.92 CBLIF CD19 MYD88 NRAS PARD3 PTPRC
5 homeostasis/metabolism MP:0005376 9.85 CBLIF CD19 CD38 MYD88 NRAS PARD3
6 immune system MP:0005387 9.65 CBLIF CD19 CD38 FUT4 MYD88 NRAS
7 neoplasm MP:0002006 9.02 CD19 MYD88 NRAS PTPRC SLC3A2

Drugs & Therapeutics for Gamma Heavy Chain Disease

Search Clinical Trials , NIH Clinical Center for Gamma Heavy Chain Disease

Genetic Tests for Gamma Heavy Chain Disease

Anatomical Context for Gamma Heavy Chain Disease

MalaCards organs/tissues related to Gamma Heavy Chain Disease:

41
Bone, Skin, Bone Marrow, T Cells, Colon, B Cells, Small Intestine

Publications for Gamma Heavy Chain Disease

Articles related to Gamma Heavy Chain Disease:

(show top 50) (show all 76)
# Title Authors Year
1
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
2
Gamma heavy-chain disease accompanied with follicular lymphoma: a case report. ( 29472805 )
2018
3
Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis. ( 29987858 )
2018
4
Two Cases of γ-Heavy Chain Disease and a Review of the Literature. ( 30186642 )
2018
5
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
6
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
7
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2016
8
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
9
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
10
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
11
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
12
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
13
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
14
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
15
Penicillium pneumonia in a patient with newly diagnosed Franklin disease. ( 22543591 )
2012
16
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
17
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
18
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
19
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
20
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
21
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
22
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
23
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
24
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
25
First report of fludarabine in gamma-heavy chain disease. ( 7819086 )
1994
26
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. ( 8160637 )
1994
27
Primary SjAPgren's syndrome and gamma heavy chain disease. ( 7991295 )
1994
28
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. ( 1519038 )
1992
29
N-ras oncogene activation in a patient with gamma heavy chain disease. ( 1288299 )
1992
30
Gamma heavy chain disease developing in association with myelodysplastic syndrome. ( 1520611 )
1992
31
Atrophie blanche in a patient with gamma-heavy-chain disease. ( 1899331 )
1991
32
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. ( 2121807 )
1990
33
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. ( 2495168 )
1989
34
Gamma heavy chain disease and rheumatoid arthritis. ( 2658067 )
1989
35
Cutaneous lesions in gamma heavy-chain disease. ( 3138950 )
1988
36
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. ( 3124986 )
1988
37
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. ( 3139711 )
1988
38
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. ( 3133921 )
1988
39
Osteolytic gamma heavy chain disease. ( 3115824 )
1987
40
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. ( 3917846 )
1985
41
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. ( 3932151 )
1985
42
Gamma heavy-chain disease involving upper airway. ( 3932940 )
1985
43
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. ( 6437695 )
1984
44
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. ( 6427878 )
1984
45
Gamma heavy chain disease. Where the heavy chains arise. ( 6404156 )
1983
46
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. ( 6414241 )
1983
47
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. ( 6806895 )
1982
48
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. ( 6808505 )
1982
49
The histopathology of gamma heavy-chain disease. ( 6814232 )
1982
50
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. ( 6811785 )
1982

Variations for Gamma Heavy Chain Disease

Expression for Gamma Heavy Chain Disease

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

Pathways for Gamma Heavy Chain Disease

GO Terms for Gamma Heavy Chain Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.92 CD38 FUT4 PTPRC SLC3A2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of B cell proliferation GO:0030890 9.16 CD38 PTPRC
2 response to interleukin-1 GO:0070555 8.96 CD38 MYD88
3 B cell receptor signaling pathway GO:0050853 8.92 CD19 CD38 IGHG3 PTPRC

Sources for Gamma 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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