MCID: GMM003
MIFTS: 37

Gamma Heavy Chain Disease malady

Rare diseases, Blood diseases, Cancer diseases, Immune diseases, Gastrointestinal diseases categories
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Summaries for Gamma Heavy Chain Disease

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NIH Rare Diseases:42 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 igg heavy chain disease, is related to heavy chain disease and heavy chain deposition disease, and has symptoms including monoclonal immunoglobulins/gammapathy/dysglobulinemia, bone marrow/medullar infiltration and lymphocytes anomalies. An important gene associated with Gamma Heavy Chain Disease is IGHG3 (immunoglobulin heavy constant gamma 3 (G3m marker)). Affiliated tissues include bone, bone marrow and liver.

Disease Ontology:8 A heavy chain disease that results from an overproduction of gamma antibody (igg).

Aliases & Classifications for Gamma Heavy Chain Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Gamma Heavy Chain Disease, Aliases & Descriptions:

Name: Gamma Heavy Chain Disease 8 42 10 62
Igg Heavy Chain Disease 42 62
Franklin Disease 42 48
Gamma Heavy Chain Deposition Disease 42
 
Gamma Heavy-Chain Disease 48
Gamma-Chain Disease 62
Franklin's Disease 8
Gamma-Hcd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
franklin disease:
Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:0060127
ICD10 via Orphanet26 C88.2

Related Diseases for Gamma Heavy Chain Disease

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Graphical network of diseases related to Gamma Heavy Chain Disease:



Diseases related to gamma heavy chain disease

Symptoms for Gamma Heavy Chain Disease

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Symptoms:

48 (show all 21)
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • bone marrow/medullar infiltration
  • lymphocytes anomalies
  • fever/chilling
  • asthenia/fatigue/weakness
  • anomalies of tongue, gingiva and oral mucosa
  • cutaneous rash
  • splenomegaly
  • lymphadenopathy/polyadenopathies
  • anaemia
  • palate anomalies
  • purpura/petichiae
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • repeat respiratory infections
  • peripheral neuropathy
  • osteolysis/osteoclasia/bone destruction/erosions
  • autoimmunity/autoimmune reaction/autoantibodies
  • hemolytic anemia
  • thrombocytopenia/thrombopenia
  • early death/lethality

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

Drugs & Therapeutics for Gamma Heavy Chain Disease

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Drug clinical trials:

Search ClinicalTrials for Gamma Heavy Chain Disease

Search NIH Clinical Center for Gamma Heavy Chain Disease

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:

32
Bone, Bone marrow, Liver, Tongue, T cells, Lymph node, Thyroid

Animal Models for Gamma Heavy Chain Disease or affiliated genes

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Publications for Gamma Heavy Chain Disease

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Articles related to Gamma Heavy Chain Disease:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma. (24859878)
2014
2
Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. (22301495)
2012
3
Gamma heavy chain disease in a patient with rheumatoid arthritis--a laboratory evaluation. (23092068)
2012
4
Gamma heavy chain disease in a patient with diabetes and chronic renal insufficiency: diagnostic assessment of the heavy chain fragment. (18348312)
2008
5
Combination of rituximab and chemotherapy showing anti-tumor effect in gamma heavy chain disease expressing CD20. (18839436)
2008
6
Unusual gamma heavy chain disease protein in a patient with splenic marginal-zone lymphoma. (16536920)
2006
7
Gamma-heavy chain disease: review of 23 cases. (12861101)
2003
8
Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. (11371236)
2001
9
Is there a pathogenic link between gamma heavy chain disease and chronic arthritis? (10647957)
2000
10
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
11
Chronic arthritis and gamma heavy chain disease: coincidence or pathogenic link? (9751465)
1998
12
Free fragments of gamma chain in the urine. A possible source of confusion with gamma heavy-chain disease. (8160637)
1994
13
Primary SjAPgren's syndrome and gamma heavy chain disease. (7991295)
1994
14
First report of fludarabine in gamma-heavy chain disease. (7819086)
1994
15
Unusual sequence of immunoglobulin L-chain rearrangements in a gamma heavy chain disease patient. (1519038)
1992
16
N-ras oncogene activation in a patient with gamma heavy chain disease. (1288299)
1992
17
Atrophie blanche in a patient with gamma-heavy-chain disease. (1899331)
1991
18
Cutaneous manifestations associated with gamma heavy chain disease. Report of an unusual case and review of literature. (2121807)
1990
19
Gamma heavy chain disease and rheumatoid arthritis. (2658067)
1989
20
Gamma heavy chain disease associated with Hodgkin's disease. Clinical, pathologic, and immunologic features of one case. (2495168)
1989
21
Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene. (3139711)
1988
22
Rapid evolution in the immunochemical findings of a gamma heavy chain disease. (3124986)
1988
23
Osteolytic gamma heavy chain disease. (3115824)
1987
24
Gamma heavy chain disease DUB: clinical, immunochemical and pathological studies. (3932151)
1985
25
Gamma heavy-chain disease involving upper airway. (3932940)
1985
26
Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7. (3917846)
1985
27
Gamma heavy chain disease. Where the heavy chains arise. (6404156)
1983
28
Gamma heavy chain disease. Ultrastructural and immunohistochemical study. (6414241)
1983
29
Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. (6808505)
1982
30
Gamma heavy chain disease and giant lymph node hyperplasia in a patient with impaired T cell function. (6811785)
1982
31
A new case of gamma-heavy chain disease. Clinical and immunochemical studies. (6806895)
1982
32
The diverse picture of gamma heavy-chain disease. Report of seven cases and review of literature. (6789012)
1981
33
The pathology of gamma heavy chain disease: report of a case with morphologic progression from lymphocytic to plasmacytic proliferation. (6790158)
1981
34
Diagnosis of gamma heavy-chain disease. (6792974)
1981
35
Gamma heavy chain disease with an unusually benign course. (6769634)
1980
36
A new case of gamma heavy chain disease: clinical, immunochemical and structural characterization. (91266)
1979
37
Gamma heavy chain disease in man: synthesis of a deleted gamma3 immunoglobulin by lymphoid cells in short and long term tissue culture. (80297)
1978
38
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
39
A new case of gamma-heavy chain disease. (417549)
1978
40
The structural heterogeneity among degraded gamma heavy chain disease proteins. (102697)
1978
41
Gamma heavy chain disease simulating alpha chain disease. (105971)
1978
42
Gamma heavy chain disease in man: translation and partial purification of mRNA coding for the deleted protein. (105356)
1978
43
Gamma heavy chain disease: clinical aspects and characterization of a deleted, noncovalently linked gamma1 heavy chain dimer (BAZ). (402960)
1977
44
Gamma heavy chain disease; report of an autopsy case with a review of the literatures. (822689)
1976
45
Gamma heavy chain disease in a young girl. (828123)
1976
46
N- and C-terminal amino acid sequences of a gamma-heavy chain disease protein YOK. (819357)
1976
47
A case of gamma heavy chain disease associated with autoimmune haemolytic anaemia: clinical, haematological, immunological and pathological details. (821137)
1976
48
Gamma heavy chain disease: rapid, sustained response to cyclophosphamide and prednisone. (1131420)
1975
49
Gamma heavy chain disease. Reports of three patients. (4562896)
1972
50
A new type of human gamma heavy chain disease protein: immunochemical and physical characteristics. (4194087)
1970

Variations for Gamma Heavy Chain Disease

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Expression for genes affiliated with Gamma Heavy Chain Disease

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Expression patterns in normal tissues for genes affiliated with Gamma Heavy Chain Disease

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

Pathways for genes affiliated with Gamma Heavy Chain Disease

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Compounds for genes affiliated with Gamma Heavy Chain Disease

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GO Terms for genes affiliated with Gamma Heavy Chain Disease

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Products for genes affiliated with Gamma Heavy Chain Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gamma Heavy Chain Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet