MCID: GMM003
MIFTS: 49

Gamma Heavy Chain Disease

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

Aliases & Classifications for Gamma Heavy Chain Disease

MalaCards integrated aliases for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 12 49 14
Franklin Disease 49 55
Gamma Heavy Chain Deposition Disease 49
Gamma-Heavy Chain Disease 55
Igg Heavy Chain Disease 49
Gamma-Chain Disease 69
Franklin's Disease 12
Gamma-Hcd 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 7/25/2010

MalaCards based summary : Gamma Heavy Chain Disease, also known as franklin disease, is related to heavy chain disease and lymphoplasmacytic lymphoma, and has symptoms including abnormality of the palate, skin rash and rheumatoid arthritis. An important gene associated with Gamma Heavy Chain Disease is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways/superpathways are Immune response Fc epsilon RI pathway and B cell receptor signaling pathway (KEGG). Affiliated tissues include skin, bone marrow and tongue, and related phenotypes are cellular and hematopoietic system

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 127)
# Related Disease Score Top Affiliating Genes
1 heavy chain disease 30.6 CD40LG CD79A IGHG3 MYD88 PARD3 PNMT
2 lymphoplasmacytic lymphoma 30.3 CD40LG MYD88
3 alpha chain disease 29.7 CD40LG CD79A SLC3A2
4 leukemia, chronic lymphocytic 29.1 CD19 CD38 CD40LG PTPRC
5 selective igg deficiency disease 10.5 CD40LG CD79A
6 c1q nephropathy 10.4 CD40LG CD79A
7 meningovascular neurosyphilis 10.4 CD40LG CD79A
8 brill-zinsser disease 10.4 CD40LG CD79A
9 exudative glomerulonephritis 10.4 CD40LG CD79A
10 cork-handlers' disease 10.4 CD40LG CD79A
11 salpingo-oophoritis 10.4 CD40LG CD79A
12 early yaws 10.4 CD40LG CD79A
13 ventilation pneumonitis 10.4 CD40LG CD79A
14 chronic interstitial cystitis 10.4 CD40LG CD79A
15 axillary adenitis 10.4 CD40LG CD79A
16 cryofibrinogenemia 10.4 CD40LG CD79A
17 trichostrongyloidiasis 10.4 CD40LG CD79A
18 subacute bacterial endocarditis 10.4 CD40LG CD79A
19 heterophyiasis 10.4 CD40LG CD79A
20 immunoglobulin g deficiency 10.4 CD40LG CD79A
21 orbital granuloma 10.4 CD40LG CD79A
22 hyperglobulinemic purpura 10.4 CD40LG CD79A
23 gastroduodenitis 10.4 CD40LG CD79A
24 bacterial conjunctivitis 10.4 CD40LG CD79A
25 ophthalmia neonatorum 10.4 CD40LG CD79A
26 immunoglobulin a deficiency 1 10.4 CD40LG CD79A
27 testicular lymphoma 10.4 MYD88 PTPRC
28 parotid disease 10.4 CD40LG CD79A
29 cerebral arteritis 10.4 CD40LG CD79A
30 selective immunoglobulin deficiency disease 10.4 CD40LG CD79A
31 geniculate herpes zoster 10.4 CD40LG CD79A
32 erythema elevatum diutinum 10.4 CD40LG CD79A
33 sporotrichosis 10.4 CD40LG CD79A
34 fallopian tube disease 10.4 CD40LG CD79A
35 encapsulated thymoma 10.4 CD38 CD79A
36 hyperimmunoglobulin syndrome 10.4 CD40LG CD79A
37 congenital syphilis 10.4 CD40LG CD79A
38 polyclonal hypergammaglobulinemia 10.4 CD40LG CD79A
39 salpingitis 10.4 CD40LG CD79A
40 ocular toxoplasmosis 10.4 CD40LG CD79A
41 parasitic ichthyosporea infectious disease 10.4 CD40LG CD79A
42 dysgammaglobulinemia 10.4 CD40LG CD79A
43 acute maxillary sinusitis 10.4 CD40LG CD79A
44 rhinosporidiosis 10.4 CD40LG CD79A
45 chronic polyneuropathy 10.4 CD40LG CD79A
46 spinocerebellar ataxia, autosomal recessive 10 10.4 CD40LG CD79A
47 cd40 ligand deficiency 10.4 CD40LG CD79A
48 secondary syphilis 10.4 CD40LG CD79A
49 yellow nail syndrome 10.4 CD40LG CD79A
50 congenital toxoplasmosis 10.4 CD40LG CD79A

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:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000174
2 skin rash 55 31 frequent (33%) Frequent (79-30%) HP:0000988
3 rheumatoid arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001370
4 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
5 autoimmune hemolytic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001890
6 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
7 autoimmune thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001973
8 dysphagia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002015
9 recurrent respiratory infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0002205
10 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
11 lymphadenopathy 55 31 frequent (33%) Frequent (79-30%) HP:0002716
12 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
13 abnormality of bone marrow cell morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005561
14 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
15 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
16 neoplasm of the tongue 55 31 frequent (33%) Frequent (79-30%) HP:0100648
17 thrombocytopenia 55 Occasional (29-5%)
18 anemia 55 Frequent (79-30%)
19 autoimmunity 55 Occasional (29-5%)
20 abnormality of lymphocytes 55 Very frequent (99-80%)
21 abnormal lymphocyte morphology 31 hallmark (90%) HP:0004332

UMLS symptoms related to Gamma Heavy Chain Disease:


fever

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 PTPRC FUT4 GIF CD19 MYD88 CD38
2 hematopoietic system MP:0005397 10.1 PTPRC FUT4 GIF CD19 MYD88 CD38
3 homeostasis/metabolism MP:0005376 10.03 PNMT CD79A PTPRC GIF CD19 MYD88
4 cardiovascular system MP:0005385 10.01 PNMT FUT4 CD19 MYD88 NRAS CD40LG
5 immune system MP:0005387 9.93 PTPRC FUT4 GIF CD19 MYD88 CD38
6 neoplasm MP:0002006 9.43 CD79A PTPRC CD19 MYD88 NRAS SLC3A2
7 renal/urinary system MP:0005367 9.1 CD79A PTPRC CD19 MYD88 CD40LG SUCO

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:

38
Skin, Bone Marrow, Tongue, Bone, T Cells, Thyroid, Lymph Node

Publications for Gamma Heavy Chain Disease

Articles related to Gamma Heavy Chain Disease:

(show top 50) (show all 69)
# Title Authors Year
1
Gamma heavy chain disease evolving during the progression of chronic lymphocytic leukemia. ( 29315075 )
2018
2
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. ( 26875967 )
2016
3
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. ( 27237805 )
2016
4
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. ( 25663537 )
2015
5
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. ( 26222587 )
2015
6
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. ( 25180407 )
2014
7
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. ( 24859878 )
2014
8
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. ( 22694793 )
2013
9
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. ( 23092068 )
2012
10
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. ( 22301495 )
2012
11
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
12
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. ( 18839436 )
2008
13
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. ( 18348312 )
2008
14
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. ( 16536920 )
2006
15
Gamma-heavy chain disease: review of 23 cases. ( 12861101 )
2003
16
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. ( 12227865 )
2002
17
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. ( 11371236 )
2001
18
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
19
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? ( 10647957 )
2000
20
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? ( 9751465 )
1998
21
First report of fludarabine in gamma-heavy chain disease. ( 7819086 )
1994
22
Primary SjAPgren's syndrome and gamma heavy chain disease. ( 7991295 )
1994
23
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. ( 8160637 )
1994
24
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. ( 1519038 )
1992
25
N-ras oncogene activation in a patient with gamma heavy chain disease. ( 1288299 )
1992
26
Atrophie blanche in a patient with gamma-heavy-chain disease. ( 1899331 )
1991
27
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. ( 2121807 )
1990
28
Gamma heavy chain disease and rheumatoid arthritis. ( 2658067 )
1989
29
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. ( 2495168 )
1989
30
Cutaneous lesions in gamma heavy-chain disease. ( 3138950 )
1988
31
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. ( 3139711 )
1988
32
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. ( 3133921 )
1988
33
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. ( 3124986 )
1988
34
Osteolytic gamma heavy chain disease. ( 3115824 )
1987
35
Gamma heavy-chain disease involving upper airway. ( 3932940 )
1985
36
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. ( 3932151 )
1985
37
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. ( 3917846 )
1985
38
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. ( 6427878 )
1984
39
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. ( 6437695 )
1984
40
Gamma heavy chain disease. Where the heavy chains arise. ( 6404156 )
1983
41
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. ( 6414241 )
1983
42
The histopathology of gamma heavy-chain disease. ( 6814232 )
1982
43
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. ( 6808505 )
1982
44
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. ( 6806895 )
1982
45
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. ( 6811785 )
1982
46
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. ( 6790158 )
1981
47
Gamma heavy chain disease protein CHA: immunological and structural studies. ( 6796821 )
1981
48
Diagnosis of gamma heavy-chain disease. ( 6792974 )
1981
49
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. ( 6789012 )
1981
50
Gamma heavy chain disease with an unusually benign course. ( 6769634 )
1980

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 9.35 CD38 CD40LG FUT4 PTPRC SLC3A2
2 external side of plasma membrane GO:0009897 9.02 CD19 CD40LG CD79A IGHG3 PTPRC

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

# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.46 CD19 CD79A MYD88 PTPRC
2 B cell proliferation GO:0042100 9.13 CD40LG CD79A PTPRC
3 B cell receptor signaling pathway GO:0050853 9.02 CD19 CD38 CD79A IGHG3 PTPRC

Sources for Gamma 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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