MCID: GMM003
MIFTS: 45

Gamma Heavy Chain Disease malady

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

Aliases & Classifications for Gamma Heavy Chain Disease

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Aliases & Descriptions for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 11 48 13
Franklin Disease 48 54
Gamma Heavy Chain Deposition Disease 48
Gamma-Heavy Chain Disease 54
 
Igg Heavy Chain Disease 48
Gamma-Chain Disease 68
Franklin's Disease 11
Gamma-Hcd 54

Characteristics:

Orphanet epidemiological data:

54
franklin disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:0060127
Orphanet54 ORPHA100026
ICD10 via Orphanet31 C88.2

Summaries for Gamma Heavy Chain Disease

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NIH Rare Diseases:48 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 disease_ontology, and has symptoms including abnormality of temperature regulation, abnormal immunoglobulin level and skin rash. An important gene associated with Gamma Heavy Chain Disease is MYD88 (Myeloid Differentiation Primary Response 88), and among its related pathways are Dendritic Cells Developmental Lineage Pathway and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone marrow and tongue, and related mouse phenotypes are neoplasm and cardiovascular system.

Disease Ontology:11 A heavy chain disease that results from an overproduction of gamma antibody (IgG).

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1heavy chain disease10.6
2disease_ontology10.6CD40LG, MYD88
3thrombocytopenia10.5MYD88, PTPRC
4calcific tendinitis10.5CD40LG, CD79A
5medullary sponge kidney10.5CD40LG, CD79A
6variola major10.5CD40LG, CD79A
7retinal cancer10.5CD40LG, CD79A
8focal embolic glomerulonephritis10.5CD40LG, CD79A
9heart disease10.5CD40LG, CD79A
10endometrial stromal nodule10.5CD40LG, CD79A
11chronic cystitis10.5CD40LG, CD79A
12van benthem-driessen-hanveld syndrome10.5CD40LG, CD79A
13hemolytic-uremic syndrome10.5CD40LG, CD79A
14partial motor epilepsy10.5CD40LG, CD79A
15benign meningioma10.5CD40LG, CD79A
16parasitic helminthiasis infectious disease10.5CD40LG, CD79A
17occlusion of gallbladder10.5CD40LG, CD79A
18viral meningitis10.5CD40LG, CD79A
19substance-induced psychosis10.5CD40LG, CD79A
20regional ureteric cancer10.5CD40LG, CD79A
21pompholyx10.5CD40LG, CD79A
22bacterial conjunctivitis10.5CD40LG, CD79A
23deep keratitis10.5CD40LG, CD79A
24monoclonal paraproteinemia10.5CD40LG, CD79A
25cockayne syndrome10.5CD40LG, CD79A
26juvenile type testicular granulosa cell tumor10.5CD40LG, CD79A
27testicular brenner tumor10.5CD40LG, CD79A
28diabetic angiopathy10.4CD40LG, CD79A
29fallopian tube leiomyosarcoma10.4CD40LG, CD79A
30brucella abortus brucellosis10.4CD40LG, CD79A
31ganglioneuroblastoma10.4CD40LG, CD79A
32small intestinal vasoactive intestinal peptide producing tumor10.4CD40LG, CD79A
33aniseikonia10.4CD40LG, CD79A
34b cell linker protein deficiency10.4CD40LG, CD79A
35post-traumatic stress disorder10.4CD40LG, CD79A
36granular cell tumor10.4CD40LG, CD79A
37psoriasis10.4CD40LG, CD79A
38spinocerebellar ataxia, autosomal recessive 1010.4CD40LG, CD79A
39adie pupil10.4CD40LG, CD79A
40lambda 5 deficiency10.4CD40LG, CD79A
41laryngeal cartilage cancer10.4CD40LG, CD79A
42lateral medullary syndrome10.4NRAS, PTPRC
43lung abscess10.4CD40LG, CD79A
44hypoparathyroidism, x-linked10.4CD40LG, CD79A
45ileocolitis10.4CD40LG, CD79A
46glanders10.4CD40LG, CD79A
47peptic esophagitis10.4CD40LG, CD79A
48mesangial proliferative glomerulonephritis10.4CD40LG, CD79A
49vestibule of mouth cancer10.3CD40LG, CD79A
50penis basal cell carcinoma10.3CD19, CD40LG

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

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Human phenotypes related to Gamma Heavy Chain Disease:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of temperature regulation64 hallmark (90%) HP:0004370
2 abnormal immunoglobulin level64 hallmark (90%) HP:0010701
3 skin rash64 54 typical (50%) Frequent (79-30%) HP:0000988
4 splenomegaly64 54 typical (50%) Frequent (79-30%) HP:0001744
5 lymphadenopathy64 54 typical (50%) Frequent (79-30%) HP:0002716
6 abnormality of the palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000174
7 thrombocytopenia64 54 occasional (7.5%) Occasional (29-5%) HP:0001873
8 hemolytic anemia64 occasional (7.5%) HP:0001878
9 subcutaneous hemorrhage64 occasional (7.5%) HP:0001933
10 recurrent respiratory infections64 54 occasional (7.5%) Occasional (29-5%) HP:0002205
11 hepatomegaly64 54 occasional (7.5%) Frequent (79-30%) HP:0002240
12 osteolysis64 54 occasional (7.5%) Occasional (29-5%) HP:0002797
13 autoimmunity64 54 occasional (7.5%) Occasional (29-5%) HP:0002960
14 feeding difficulties in infancy64 occasional (7.5%) HP:0008872
15 peripheral neuropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0009830
16 rheumatoid arthritis54 Occasional (29-5%)
17 autoimmune hemolytic anemia54 Occasional (29-5%)
18 anemia54 Frequent (79-30%)
19 fever54 Very frequent (99-80%)
20 autoimmune thrombocytopenia54 Occasional (29-5%)
21 dysphagia54 Occasional (29-5%)
22 abnormality of lymphocytes54 Very frequent (99-80%)
23 abnormality of bone marrow cell morphology54 Very frequent (99-80%)
24 fatigue54 Very frequent (99-80%)
25 neoplasm of the tongue54 Frequent (79-30%)

UMLS symptoms related to Gamma Heavy Chain Disease:


hepatomegaly

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6CD19, CD79A, MYD88, NRAS, PTPRC, SLC3A2
2MP:00053858.3CD19, CD40LG, FUT4, MYD88, NRAS, PARD3
3MP:00053678.3CD19, CD40LG, CD79A, MYD88, PTPRC, SUCO
4MP:00053767.2CD19, CD38, CD40LG, CD79A, MYD88, NRAS
5MP:00053847.0CD19, CD38, CD40LG, CD79A, FUT4, MYD88
6MP:00053976.7CD19, CD38, CD40LG, CD79A, FUT4, MYD88
7MP:00053876.6CD19, CD38, CD40LG, CD79A, FUT4, MYD88

Drugs & Therapeutics for Gamma Heavy Chain Disease

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
Bortezomibapproved, investigationalPhase 2794179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-({(2S)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
3ImmunoglobulinsPhase 26045
4Myeloma ProteinsPhase 225
5ParaproteinsPhase 225
6Immunoglobulin MPhase 29
7Immunoglobulin APhase 2118
8Angiogenesis Modulating AgentsPhase 24072
9Angiogenesis InhibitorsPhase 24143
10AntibodiesPhase 26045

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed/Refractory Multiple MyelomaCompletedNCT00464178Phase 2

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Genetic Tests for Gamma Heavy Chain Disease

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Anatomical Context for Gamma Heavy Chain Disease

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MalaCards organs/tissues related to Gamma Heavy Chain Disease:

36
Skin, Bone marrow, Tongue, Bone, T cells, Thyroid, Lymph node

Publications for Gamma Heavy Chain Disease

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Articles related to Gamma Heavy Chain Disease:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Gamma Heavy Chain Disease with T-cell Large Granular Lymphocytic Leukemia: A Case Report and Review of the Literature. (26875967)
2016
2
Discovery of a gamma heavy chain disease in a patient followed-up for a lymphoplasma cell proliferative disorder. (27237805)
2016
3
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. (26222587)
2015
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 lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. (24859878)
2014
6
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. (25180407)
2014
7
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. (22694793)
2013
8
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. (23092068)
2012
9
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. (22301495)
2012
10
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
11
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. (18348312)
2008
12
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. (18839436)
2008
13
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. (16536920)
2006
14
Gamma-heavy chain disease: review of 23 cases. (12861101)
2003
15
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. (12227865)
2002
16
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. (11371236)
2001
17
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
18
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? (10647957)
2000
19
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? (9751465)
1998
20
Primary SjAPgren's syndrome and gamma heavy chain disease. (7991295)
1994
21
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. (8160637)
1994
22
First report of fludarabine in gamma-heavy chain disease. (7819086)
1994
23
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. (1519038)
1992
24
N-ras oncogene activation in a patient with gamma heavy chain disease. (1288299)
1992
25
Atrophie blanche in a patient with gamma-heavy-chain disease. (1899331)
1991
26
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. (2121807)
1990
27
Gamma heavy chain disease and rheumatoid arthritis. (2658067)
1989
28
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. (2495168)
1989
29
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. (3133921)
1988
30
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. (3139711)
1988
31
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. (3124986)
1988
32
Cutaneous lesions in gamma heavy-chain disease. (3138950)
1988
33
Osteolytic gamma heavy chain disease. (3115824)
1987
34
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. (3932151)
1985
35
Gamma heavy-chain disease involving upper airway. (3932940)
1985
36
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. (3917846)
1985
37
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. (6437695)
1984
38
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. (6427878)
1984
39
Gamma heavy chain disease. Where the heavy chains arise. (6404156)
1983
40
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. (6414241)
1983
41
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. (6811785)
1982
42
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. (6806895)
1982
43
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. (6808505)
1982
44
The histopathology of gamma heavy-chain disease. (6814232)
1982
45
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. (6789012)
1981
46
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. (6790158)
1981
47
Diagnosis of gamma heavy-chain disease. (6792974)
1981
48
Gamma heavy chain disease protein CHA: immunological and structural studies. (6796821)
1981
49
Gamma heavy chain disease with an unusually benign course. (6769634)
1980
50
A new case of gamma heavy chain disease: clinical, immunochemical and structural characterization. (91266)
1979

Variations for Gamma Heavy Chain Disease

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Expression for genes affiliated with Gamma Heavy Chain Disease

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

GO Terms for genes affiliated with Gamma Heavy Chain Disease

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.5CD19, CD40LG, CD79A, IGHG3, PTPRC
2cell surfaceGO:00099868.4CD38, CD40LG, FUT4, PTPRC, SLC3A2

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

idNameGO IDScoreTop Affiliating Genes
1B cell proliferationGO:00421009.7CD40LG, CD79A, PTPRC
2B cell receptor signaling pathwayGO:00508538.5CD19, CD38, CD79A, IGHG3, PTPRC

Sources for Gamma Heavy Chain Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet