MCID: RCH001
MIFTS: 48

Richter's Syndrome malady

Summaries for Richter's Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Richter syndrome is a rare condition in which chronic lymphocytic leukemia (cll) changes into a fast-growing type of lymphoma. symptoms of richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising). last updated: 1/3/2014

MalaCards: Richter's Syndrome, also known as richter transformation, is related to chronic lymphocytic leukemia and leukemia. An important gene associated with Richter's Syndrome is CD5 (CD5 molecule), and among its related pathways are Hematopoietic cell lineage and Chronic myeloid leukemia. The compounds butyrate and p00048 have been mentioned in the context of this disorder. Affiliated tissues include lymph node, spleen and liver, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Aliases & Classifications for Richter's Syndrome

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8Disease Ontology, 60UMLS, 42NIH Rare Diseases, 39NCIt, 56SNOMED-CT
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Aliases & Descriptions:

richter's syndrome 8 60
richter transformation 42
richter syndrome 42


External Ids:

Disease Ontology8 DOID:1703
SNOMED-CT56 277550009
NCIt39 C35424

Related Diseases for Richter's Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Richter's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1chronic lymphocytic leukemia30.9ATM, BCR, CD38, CD5, CSF2
2leukemia30.9NOTCH1, CDKN1A, SPN, CD38, CSF2, CDKN2A
3prolymphocytic leukemia30.0CD38, CD5, ATM
4hodgkin's lymphoma30.0CSF2, ATM, BCR, IRF4
5kotzot-richter syndrome10.4
6diffuse large b-cell lymphoma10.3
7bone carcinoma10.1
8merkel cell carcinoma10.1
9herpes simplex10.1
10lymphadenitis10.1
11graft versus host disease10.0
12colon lymphoma10.0
13mantle cell lymphoma10.0
14severe combined immunodeficiency10.0CD38
15hepatitis c10.0BCR
16adult t-cell leukemia10.0PTHLH
17systemic lupus erythematosus10.0CRP
18plasmacytoma10.0IRF4
19rhabdoid tumor10.0BCR
20fanconi's anemia10.0ATM
21kidney cancer10.0CSF2
22adenocarcinoma in situ10.0CDKN2A
23hypersensitivity reaction type ii disease10.0CD5
24pituitary adenoma10.0IFI27
25respiratory failure10.0CRP
26smooth muscle tumor10.0IFI27
27malt lymphoma10.0CD5, IRF4
28laryngeal benign neoplasm10.0IFI27
29pancreatitis10.0CRP
30arthritis10.0CRP, CSF2
31leukemoid reaction10.0CSF2
32thymoma10.0CD5, IFI27
33thyroid cancer10.0CDKN1A
34multiple myeloma10.0CDKN2A, IRF4, CD38
35tongue cancer10.0CDKN1A
36gastrointestinal stromal tumor10.0BCR, IFI27
37esophageal cancer10.0CDKN2A
38deficiency anemia10.0CSF2, CRP, CD5
39myelodysplastic syndromes10.0CSF2, SPN
40chondrosarcoma10.0PTHLH
41li-fraumeni syndrome10.0ATM, CDKN2A, CDKN1A
42rheumatoid arthritis10.0CSF2, CD5, CRP
43thrombocytopenia10.0SPN, CSF2
44clear cell adenocarcinoma10.0PTHLH, IFI27
45follicular lymphoma10.0CD5, BCR, IRF4, CSF2
46myeloid leukemia10.0CSF2, CD38, CDKN1A, BCR
47oral cancer10.0CDKN1A, CDKN2A, IFI27
48b-cell chronic lymphocytic leukemia10.0CD38, BCR, CD5, ATM
49acute leukemia10.0ATM, CSF2, NOTCH1, BCR
50astrocytoma10.0BCR, CDKN2A, IFI27, CDKN1A

Graphical network of the top 20 diseases related to Richter's Syndrome:



Diseases related to richter's syndrome

Clinical Features for Richter's Syndrome

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Drugs & Therapeutics for Richter's Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Richter's Syndrome

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Anatomical Context for Richter's Syndrome

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32MalaCards
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MalaCards organs/tissues related to Richter's Syndrome:

32
Lymph node, Spleen, Liver, B cells, Bone, Brain, T cells, Monocytes, Skin, Colon, Spinal cord, Bone marrow

Animal Models for Richter's Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Richter's Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.1CDKN2A, SPN, CDKN1A, FOXN1
2MP:00053709.9CDKN2A, CDKN1A, INHBC, NOTCH1, BCR, FOXN1
3MP:00053799.7CSF2, FOXN1, ATM, CDKN2A, CD38, CDKN1A
4MP:00053979.6BCR, SPN, PTHLH, CDKN1A, CSF2, IRF4
5MP:00053879.4PTHLH, CDKN1A, SPN, BCR, CD38, CDKN2A
6MP:00053849.4CD5, BCR, SPN, PTHLH, NOTCH1, CDKN1A
7MP:00053769.2CD38, CSF2, FOXN1, CRP, CDKN2A, CDKN1A

Publications for Richter's Syndrome

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50PubMed
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Articles related to Richter's Syndrome:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
Richter's syndrome: Utility of A^a8,F-FDG PET/CT. (23044071)
2013
2
Richter's syndrome with aberrant CD2 and CD4 expression. (22649134)
2012
3
Richter's syndrome in colon: case report. (21057893)
2012
4
Richter's syndrome of the brain and the spinal cord. (20587487)
2011
5
Haemophagocytic syndrome and Hodgkin's disease variant of Richter's syndrome after fludarabine for CLL. (20331737)
2010
6
Telomere length is an independent predictor of survival, treatment requirement and Richter's syndrome transformation in chronic lymphocytic leukemia. (19340005)
2009
7
Recent advances in the diagnosis and therapy of Richter's syndrome. (17673808)
2007
8
EBV negative Richter's syndrome from a coexistent clone after salvage treatment with alemtuzumab in a CLL patient. (16838338)
2006
9
Hodgkin's disease variant of Richter's syndrome clonally related to chronic lymphocytic leukemia arises in ZAP-70 negative mutated CLL. (16223567)
2006
10
Richter's syndrome: biology and therapy. (16053658)
2005
11
Hodgkin's disease variant of Richter's syndrome in chronic lymphocytic leukaemia patients previously treated with fludarabine. (15813847)
2005
12
Unusual sites of malignancies: CASE 2. Central neurogenic hyperventilation as a complication of Richter's syndrome. (15774798)
2005
13
Distinct clonal origin in two cases of Hodgkin's lymphoma variant of Richter's syndrome associated With EBV infection. (15105659)
2004
14
Second malignancies and Richter's syndrome in patients with chronic lymphocytic leukaemia treated with cladribine. (14746857)
2004
15
Uncommon syndromes and treatment manifestations of malignancy: Case 3. Richter's syndrome heralded by refractory hypercalcemia. (12506188)
2003
16
Richter's syndrome after allogeneic stem cell transplantation for chronic lymphocytic leukaemia successfully treated by withdrawal of immunosuppression, and donor lymphocyte infusion. (12621484)
2003
17
Variant Richter's syndrome: a rare case of classical Hodgkin's lymphoma developing in a patient with chronic lymphocytic leukemia treated with fludarabine. (14959863)
2003
18
Limitations of Gallium-67 SPECT in histological transformation of chronic lymphocytic leukaemia: an analysis of 13 patients with clinically suspected Richter's syndrome. (12406089)
2002
19
Primary digestive Richter's syndrome. (11353056)
2001
20
Plasmablastic lymphoma in a patient with chronic lymphocytic leukemia heavily pretreated with cladribine (2-CdA): an unusual variant of Richter's syndrome. (11872081)
2001
21
Progressive multifocal leukoencephalopathy with concurrent Richter's syndrome. (10811461)
2000
22
Epstein-Barr virus associated Richter's syndrome accompanied by interstitial pneumonia]. (10390889)
1999
23
Hodgkin's disease type Richter's syndrome in chronic lymphocytic leukemia. (10374892)
1999
24
Richter's syndrome in a patient with B prolymphocytic leukemia. (10329926)
1999
25
Hodgkin's disease variant of Richter's syndrome. Report of a case with diagnosis by fine needle biopsy. (9167708)
1997
26
Transformation of chronic lymphocytic leukemia to immunoblastic lymphoma (Richter's syndrome) (9180919)
1997
27
Hypercalcemia may indicate Richter's syndrome: report of four cases and review. (9070500)
1997
28
Hodgkin's disease variant of Richter's syndrome: experience at a single institution. (9031114)
1996
29
Richter's syndrome in a case of atypical chronic lymphocytic leukaemia with the t(11;14)(q13;q32): role for a p53 exon 7 gene mutation. (8603003)
1996
30
Different clonal origin of B-cell populations of chronic lymphocytic leukemia and large-cell lymphoma in Richter's syndrome. (7486574)
1995
31
Frequent somatic mutations in D and/or JH segments of Ig gene in WaldenstrAPm's macroglobulinemia and chronic lymphocytic leukemia (CLL) with Richter's syndrome but not in common CLL. (7703494)
1995
32
Richter's syndrome associated with loss of response to transforming growth factor-beta. (8107492)
1994
33
Isolated Richter's syndrome of the brain: two recent cases. (7892133)
1994
34
A cultured malignant B-1 line serves as a model for Richter's syndrome. (8046247)
1994
35
Use of a retinoblastoma gene probe to investigate clonality in Richter's syndrome. (8231258)
1993
36
Genotypic analyses of Richter's syndrome. (1991269)
1991
37
Southern blot analysis in a case of Richter's syndrome. Evidence for a postrearrangement heavy chain gene deletion associated with the altered phenotype. (1849702)
1991
38
Diffuse large cell lymphoma occurring in a patient with WaldenstrAPm's macroglobulinemia. Evidence for the two different clones in Richter's syndrome. (1906774)
1991
39
Primary central nervous system lymphoma as a variant of Richter's syndrome in two patients with chronic lymphocytic leukemia. (2766225)
1989
40
Richter's syndrome with identical immunoglobulin gene rearrangements in the chronic lymphocytic leukemia and the supervening non-Hodgkin lymphoma. (2811481)
1989
41
A case of Richter's syndrome due to the spontaneous proliferation of two immunologically unrelated B cell malignancies. (3108099)
1987
42
Sustained complete remission in Richter's syndrome. (3815263)
1987
43
Reed-Sternberg-like cells in Richter's syndrome express granulocytic-associated-antigen (Leu-M1) (3706214)
1986
44
Richter's syndrome with two different B-cell clones. (3093055)
1986
45
Richter's syndrome--an indication for lymph node biopsy in chronic lymphocytic leukaemia. A case report. (6623232)
1983
46
J-chain-producing immunoblastic lymphoma in a case of Richter's syndrome. Immunohistochemical evidence for a gradual malignant transformation of a single B-cell clone and flow cytophotometric data. (6812283)
1982
47
Richter's syndrome: a blastic transformation of chronic lymphocyte leukemia. (7335044)
1981
48
Richter's syndrome: diffuse histiocytic lymphoma in patients with chronic lymphocytic leukemia. A report of five cases and review of the literature. (6989238)
1980
49
Richter's syndrome. (335529)
1977
50
Richter's syndrome. A terminal complication of chronic lymphocytic leukemia with distinct clinicopathologic features. (1096589)
1975

Genetic Variations for Richter's Syndrome

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Expression for genes affiliated with Richter's Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Richter's Syndrome

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Pathways for genes affiliated with Richter's Syndrome

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29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 53Reactome
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Pathways related to Richter's Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CD38, CD5, CSF2
2
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10.2CDKN1A, CDKN2A, BCR
3
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10.2CDKN2A, ATM, CDKN1A
410.2CDKN1A, CDKN2A, ATM
5
Transcription P53 signaling pathway
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10.2CDKN1A, CDKN2A, ATM
6
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10.2ATM, CDKN2A, CDKN1A
710.1ATM, CDKN1A, CDKN2A, NOTCH1
810.1CSF2, ATM, CDKN2A, CDKN1A

Compounds for genes affiliated with Richter's Syndrome

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44Novoseek, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Richter's Syndrome according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1butyrate4410.7CSF2
2p000484410.7CDKN1A, IFI27
3optimax4410.7CDKN1A, IFI27
4eb 108944 5911.6IFI27, CDKN1A, PTHLH
5acnu4410.6CDKN1A, CDKN2A
6tamoxifen44 49 28 1113.6PTHLH, CDKN1A
7cytochalasin b4410.6CSF2, SPN, BCR
8rituximab44 49 1112.6BCR, CD38, CRP, CSF2
9neopterin4410.5CSF2, CRP, CD38
10roscovitine4410.5CDKN1A, CDKN2A, IFI27
11mevastatin44 28 1112.5CDKN1A, IFI27
12hydroxyurea44 49 1112.5CDKN1A, CDKN2A, ATM, CSF2
13serine4410.5BCR
14bleomycin44 1111.5CSF2, ATM, PTHLH
15lovastatin44 49 59 28 1114.5PTHLH, CDKN1A, CDKN2A, IFI27
1615-deoxy-delta-12,14-prostaglandin j24410.5CDKN1A, CSF2, IFI27
17cyclophosphamide44 49 1112.5CSF2, CRP, PTHLH, BCR
18rosiglitazone44 49 28 11 2414.5PTHLH, CDKN1A, CRP, IFI27
19dexamethasone44 49 28 1113.5NOTCH1, CD38, CDKN2A, IFI27
20calcitriol44 59 11 2413.4IFI27, CSF2, CD38, CDKN1A, PTHLH
21agar4410.4PTHLH, CDKN1A, CDKN2A, CSF2
22actinomycin d4410.4CSF2, CDKN2A, CD38, CDKN1A, PTHLH
23n acetylcysteine4410.4IFI27, CRP, ATM, CDKN2A, CDKN1A
24rapamycin4410.4IFI27, CRP, ATM, CDKN1A, NOTCH1
25paclitaxel44 49 1112.4CDKN1A, CDKN2A, IFI27
26adpribose4410.4IFI27, CD38, CDKN1A
27cytarabine44 49 1112.4BCR, IFI27, CSF2, ATM, CDKN2A, CDKN1A
28azithromycin44 1111.4CSF2, CRP
29thymidine44 2411.3IFI27, CSF2, CDKN1A, PTHLH, BCR
30azathioprine44 49 2 1113.3PTHLH, CDKN2A, CRP
31ly2940024410.3IFI27, CRP, ATM, CDKN1A, NOTCH1, BCR
32lactate4410.3IFI27, CSF2, CRP, ATM, PTHLH
33doxorubicin44 49 1112.3IFI27, CSF2, ATM, CDKN2A, CDKN1A, NOTCH1
34cisplatin44 49 59 1113.3IFI27, CSF2, ATM, CDKN2A, CDKN1A, PTHLH
35vitamin d4410.3IFI27, CSF2, CDKN1A, PTHLH
36hpvs4410.3CDKN2A, CDKN1A
37phosphatidylinositol4410.3IFI27, CSF2, ATM, CD38, NOTCH1, PTHLH
38genistein44 28 59 2 11 2415.3IFI27, CSF2, ATM, CDKN2A, CDKN1A, NOTCH1
39paraffin4410.3IFI27, ATM, CD5, CDKN2A, CDKN1A, PTHLH
40h2o24410.2CSF2, CDKN2A, CDKN1A, SPN, BCR
41vegf4410.2IFI27, CSF2, CRP, CDKN2A, CDKN1A, NOTCH1
42oxygen44 2411.2IFI27, ATM, CDKN2A, CDKN1A, NOTCH1, PTHLH
43thymidylate4410.2CDKN1A, CDKN2A, IFI27
44retinoic acid44 2411.2IFI27, CSF2, CDKN2A, CD38, CDKN1A, NOTCH1
45threonine4410.2IFI27, ATM, CDKN2A, CDKN1A, NOTCH1, PTHLH
46lipid4410.1IFI27, CRP, ATM, CDKN2A, CD38, NOTCH1
47vincristine44 49 1112.0PTHLH, CSF2
48calcium44 49 11 2413.0IFI27, CRP, CD5, CDKN2A, CD38, NOTCH1
49pd 98,0594410.0IFI27, CSF2, CDKN1A, BCR
50tyrosine449.9IFI27, CSF2, ATM, LILRA4, CD5, CD38

GO Terms for genes affiliated with Richter's Syndrome

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16Gene Ontology
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Biological processes related to Richter's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1somatic stem cell divisionGO:04810310.4NOTCH1, CDKN2A
2myeloid dendritic cell differentiationGO:04301110.3IRF4, CSF2
3replicative senescenceGO:09039910.3ATM, CDKN2A
4apoptotic signaling pathwayGO:09719010.2SPN, CD38, CD5, IFI27
5positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.2CDKN2A, ATM
6negative regulation of B cell proliferationGO:03088910.0CDKN2A, ATM

Molecular functions related to Richter's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00486110.3CDKN1A, CDKN2A

Products for genes affiliated with Richter's Syndrome

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Sources for Richter's Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet