MCID: GMM003
MIFTS: 46

Gamma Heavy Chain Disease malady

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

Aliases & Classifications for Gamma Heavy Chain Disease

About this section

Aliases & Descriptions for Gamma Heavy Chain Disease:

Name: Gamma Heavy Chain Disease 11 46 13
Franklin Disease 46 52
Gamma Heavy Chain Deposition Disease 46
Gamma-Heavy Chain Disease 52
 
Igg Heavy Chain Disease 46
Gamma-Chain Disease 66
Franklin's Disease 11
Gamma-Hcd 52

Characteristics:

Orphanet epidemiological data:

52
franklin disease:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age

Classifications:



External Ids:

Disease Ontology11 DOID:0060127
Orphanet52 ORPHA100026
ICD10 via Orphanet29 C88.2

Summaries for Gamma Heavy Chain Disease

About this section
NIH Rare Diseases:46 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 renal/urinary system.

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

Related Diseases for Gamma Heavy Chain Disease

About this section

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 129)
idRelated DiseaseScoreTop Affiliating Genes
1heavy chain disease10.7
2disease_ontology10.7CD40LG, MYD88
3thrombocytopenia10.6MYD88, PTPRC
4calcific tendinitis10.6CD40LG, CD79A
5medullary sponge kidney10.6CD40LG, CD79A
6variola major10.6CD40LG, CD79A
7calcium metabolism disease10.6CD40LG, CD79A
8retinal cancer10.6CD40LG, CD79A
9focal embolic glomerulonephritis10.6CD40LG, CD79A
10membranous glomerulonephritis10.6CD40LG, CD79A
11heart disease10.6CD40LG, CD79A
12endometrial stromal nodule10.6CD40LG, CD79A
13chronic cystitis10.6CD40LG, CD79A
14van benthem-driessen-hanveld syndrome10.6CD40LG, CD79A
15hemolytic-uremic syndrome10.6CD40LG, CD79A
16partial motor epilepsy10.6CD40LG, CD79A
17benign meningioma10.6CD40LG, CD79A
18parasitic helminthiasis infectious disease10.6CD40LG, CD79A
19occlusion of gallbladder10.6CD40LG, CD79A
20viral meningitis10.6CD40LG, CD79A
21substance-induced psychosis10.6CD40LG, CD79A
22regional ureteric cancer10.6CD40LG, CD79A
23pompholyx10.5CD40LG, CD79A
24bacterial conjunctivitis10.5CD40LG, CD79A
25deep keratitis10.5CD40LG, CD79A
26monoclonal paraproteinemia10.5CD40LG, CD79A
27cockayne syndrome10.5CD40LG, CD79A
28juvenile type testicular granulosa cell tumor10.5CD40LG, CD79A
29testicular brenner tumor10.5CD40LG, CD79A
30oculo cerebro osseous syndrome10.5CD40LG, CD79A
31diabetic angiopathy10.5CD40LG, CD79A
32fallopian tube leiomyosarcoma10.5CD40LG, CD79A
33brucella abortus brucellosis10.5CD40LG, CD79A
34ganglioneuroblastoma10.5CD40LG, CD79A
35small intestinal vasoactive intestinal peptide producing tumor10.5CD40LG, CD79A
36aniseikonia10.5CD40LG, CD79A
37b cell linker protein deficiency10.5CD40LG, CD79A
38post-traumatic stress disorder10.5CD40LG, CD79A
39granular cell tumor10.5CD40LG, CD79A
40psoriasis10.5CD40LG, CD79A
41spinocerebellar ataxia, autosomal recessive 1010.5CD40LG, CD79A
42adie pupil10.5CD40LG, CD79A
43lambda 5 deficiency10.5CD40LG, CD79A
44laryngeal cartilage cancer10.5CD40LG, CD79A
45lateral medullary syndrome10.5NRAS, PTPRC
46lung abscess10.5CD40LG, CD79A
47hypoparathyroidism, x-linked10.5CD40LG, CD79A
48ileocolitis10.5CD40LG, CD79A
49glanders10.5CD40LG, CD79A
50peptic esophagitis10.4CD40LG, CD79A

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



Diseases related to gamma heavy chain disease

Symptoms for Gamma Heavy Chain Disease

About this section

Symptoms:

 52 (show all 20)
  • abnormality of the palate
  • skin rash
  • rheumatoid arthritis
  • splenomegaly
  • thrombocytopenia
  • autoimmune hemolytic anemia
  • anemia
  • fever
  • autoimmune thrombocytopenia
  • dysphagia
  • recurrent respiratory infections
  • hepatomegaly
  • lymphadenopathy
  • osteolysis
  • autoimmunity
  • abnormality of lymphocytes
  • abnormality of bone marrow cell morphology
  • peripheral neuropathy
  • fatigue
  • neoplasm of the tongue

HPO human phenotypes related to Gamma Heavy Chain Disease:

(show all 15)
id Description Frequency HPO Source Accession
1 abnormality of temperature regulation hallmark (90%) HP:0004370
2 abnormal immunoglobulin level hallmark (90%) HP:0010701
3 skin rash typical (50%) HP:0000988
4 splenomegaly typical (50%) HP:0001744
5 lymphadenopathy typical (50%) HP:0002716
6 abnormality of the palate occasional (7.5%) HP:0000174
7 thrombocytopenia occasional (7.5%) HP:0001873
8 hemolytic anemia occasional (7.5%) HP:0001878
9 subcutaneous hemorrhage occasional (7.5%) HP:0001933
10 recurrent respiratory infections occasional (7.5%) HP:0002205
11 hepatomegaly occasional (7.5%) HP:0002240
12 osteolysis occasional (7.5%) HP:0002797
13 autoimmunity occasional (7.5%) HP:0002960
14 feeding difficulties in infancy occasional (7.5%) HP:0008872
15 peripheral neuropathy occasional (7.5%) HP:0009830

UMLS symptoms related to Gamma Heavy Chain Disease:


hepatomegaly

Drugs & Therapeutics for Gamma Heavy Chain Disease

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BortezomibPhase 2783179324-69-7387447, 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
2
BevacizumabPhase 21938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab

Interventional clinical trials:

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

Search NIH Clinical Center for Gamma Heavy Chain Disease

Genetic Tests for Gamma Heavy Chain Disease

About this section

Anatomical Context for Gamma Heavy Chain Disease

About this section

MalaCards organs/tissues related to Gamma Heavy Chain Disease:

34
Skin, Bone marrow, Tongue, Bone, T cells, Thyroid, Lymph node

Animal Models for Gamma Heavy Chain Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Gamma Heavy Chain Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1CD19, CD79A, MYD88, NRAS, PTPRC, SLC3A2
2MP:00053678.0CD19, CD40LG, CD79A, MYD88, PTPRC, SUCO
3MP:00053857.3CD19, CD40LG, FUT4, MYD88, NRAS, PARD3
4MP:00053766.4CD19, CD38, CD40LG, CD79A, MYD88, NRAS
5MP:00053846.4CD19, CD38, CD40LG, CD79A, FUT4, MYD88
6MP:00053876.2CD19, CD38, CD40LG, CD79A, FUT4, MYD88
7MP:00053976.0CD19, CD38, CD40LG, CD79A, FUT4, MYD88

Publications for Gamma Heavy Chain Disease

About this section

Articles related to Gamma Heavy Chain Disease:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Gamma heavy chain disease associated with large granular lymphocytic leukemia: A report of two cases and review of the literature. (26222587)
2015
2
A unique description of stage IV extranodal marginal zone lymphoma (EMZL) in an adolescent associated with gamma heavy chain disease. (25663537)
2015
3
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. (24859878)
2014
4
Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings. (25180407)
2014
5
Unusual concurrence of T-cell large granular lymphocytic leukemia with Franklin disease (gamma heavy chain disease) manifested with massive splenomegaly. (22694793)
2013
6
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. (23092068)
2012
7
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. (22301495)
2012
8
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. (16536920)
2006
9
Gamma heavy chain disease screening showing a discrepancy between electrophoretic and nephelometric determinations of serum gamma globulin concentration. (12227865)
2002
10
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. (11371236)
2001
11
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
12
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? (10647957)
2000
13
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? (9751465)
1998
14
Primary SjAPgren's syndrome and gamma heavy chain disease. (7991295)
1994
15
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. (8160637)
1994
16
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. (1519038)
1992
17
N-ras oncogene activation in a patient with gamma heavy chain disease. (1288299)
1992
18
Atrophie blanche in a patient with gamma-heavy-chain disease. (1899331)
1991
19
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. (2121807)
1990
20
Gamma heavy chain disease and rheumatoid arthritis. (2658067)
1989
21
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. (2495168)
1989
22
Multiple osteolytic lesions in a case of gamma heavy chain disease: roentgenographic findings. (3133921)
1988
23
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. (3139711)
1988
24
Osteolytic gamma heavy chain disease. (3115824)
1987
25
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. (3932151)
1985
26
Gamma heavy chain disease studied by two-dimensional electrophoresis and immuno-blotting techniques. (6437695)
1984
27
Gamma heavy chain disease. Where the heavy chains arise. (6404156)
1983
28
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. (6811785)
1982
29
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. (6806895)
1982
30
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. (6808505)
1982
31
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. (6789012)
1981
32
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. (6790158)
1981
33
Gamma heavy chain disease with an unusually benign course. (6769634)
1980
34
A new case of gamma heavy chain disease: clinical, immunochemical and structural characterization. (91266)
1979
35
Gamma heavy chain disease in man: synthesis of a deleted gamma3 immunoglobulin by lymphoid cells in short and long term tissue culture. (80297)
1978
36
Pathological studies on a long-term survived case of gamma heavy chain disease--a brief review of 30 reported cases and a proposal for histological typing. (104544)
1978
37
Gamma heavy chain disease seen initially as gastric neoplasm. (96746)
1978
38
The structural heterogeneity among degraded gamma heavy chain disease proteins. (102697)
1978
39
Gamma heavy chain disease simulating alpha chain disease. (105971)
1978
40
A new case of gamma-heavy chain disease. (417549)
1978
41
Gamma heavy chain disease: clinical aspects and characterization of a deleted, noncovalently linked gamma1 heavy chain dimer (BAZ). (402960)
1977
42
N- and C-terminal amino acid sequences of a gamma-heavy chain disease protein YOK. (819357)
1976
43
Gamma heavy chain disease; report of an autopsy case with a review of the literatures. (822689)
1976
44
Gamma heavy chain disease in a young girl. (828123)
1976
45
A case of gamma heavy chain disease associated with autoimmune haemolytic anaemia: clinical, haematological, immunological and pathological details. (821137)
1976
46
Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone. (1131420)
1975
47
Clinical findings in a case of newly defined gamma heavy chain disease protein. (4747582)
1973
48
Gamma heavy chain disease. Reports of three patients. (4562896)
1972
49
Gamma-heavy chain disease. Preliminary studies in three cases. (4137680)
1972
50
A new type of human gamma heavy chain disease protein: immunochemical and physical characteristics. (4194087)
1970

Variations for Gamma Heavy Chain Disease

About this section

Expression for genes affiliated with Gamma Heavy Chain Disease

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

Pathways for genes affiliated with Gamma Heavy Chain Disease

About this section

GO Terms for genes affiliated with Gamma Heavy Chain Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.6CD19, CD40LG, CD79A, IGHG3, PTPRC
2cell surfaceGO:00099867.9CD38, 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:00421009.0CD40LG, CD79A, PTPRC
2B cell receptor signaling pathwayGO:00508538.5CD19, CD38, CD79A, IGHG3, PTPRC

Sources for Gamma Heavy Chain Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet