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:

Search CenterWatch for Richter's Syndrome

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:000200610.1FOXN1, CDKN2A, CDKN1A, SPN
2MP:00053709.9CDKN2A, CDKN1A, INHBC, NOTCH1, BCR, FOXN1
3MP:00053799.7CSF2, FOXN1, ATM, CDKN2A, CD38, CDKN1A
4MP:00053979.6CSF2, IRF4, FOXN1, ATM, CD5, CDKN2A
5MP:00053879.4BCR, CSF2, IRF4, FOXN1, CRP, ATM
6MP:00053849.4CSF2, IRF4, FOXN1, ATM, CD5, CDKN2A
7MP:00053769.2CSF2, FOXN1, CRP, CDKN2A, CD38, 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
MDR-1 gene polymorphisms G2677T and C3435T in a case of Hodgkin's variant of Richter's syndrome. (22866091)
2011
2
Cutaneous Richter's syndrome, prognosis, and clinical, histological and immunohistological patterns: report of four cases and review of the literature. (20145381)
2010
3
Genomic profiling of Richter's syndrome: recurrent lesions and differences with de novo diffuse large B-cell lymphomas. (20014148)
2010
4
Richter's syndrome developing in a patient with adult onset Still's disease. (18607590)
2009
5
Phase I-II study of oxaliplatin, fludarabine, cytarabine, and rituximab combination therapy in patients with Richter's syndrome or fludarabine-refractory chronic lymphocytic leukemia. (18182662)
2008
6
Primary effusion lymphoma presenting as Richter's syndrome. (17573910)
2007
7
EBV negative Richter's syndrome from a coexistent clone after salvage treatment with alemtuzumab in a CLL patient. (16838338)
2006
8
Clinical outcomes and prognostic factors in patients with Richter's syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. (16710033)
2006
9
Chronic lymphocytic leukemia with osteolytic Richter's syndrome mimicking myeloma bone disease shows no over-expression of DKK1. (17065022)
2006
10
Richter's syndrome--the downside of fludarabine? (16111529)
2005
11
Richter's syndrome: biology and therapy. (16053658)
2005
12
Isolated Richter's syndrome in central nervous system: case report]. (16059612)
2005
13
Richter's syndrome presenting as a nasal lymphoma. (15223655)
2004
14
Secondary follicular lymphoma of the bone, transformed into large cell lymphoma, in a patient with chronic lymphocytic leukaemia: an uncommon manifestation of Richter's syndrome. (14962241)
2004
15
Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome. (14671632)
2004
16
Hodgkin's type of Richter's syndrome in familial chronic lymphocytic leukemia treated with cladribine and cyclophosphamide. (12802926)
2003
17
Phase II study of fludarabine, cytarabine (Ara-C), cyclophosphamide, cisplatin and GM-CSF (FACPGM) in patients with Richter's syndrome or refractory lymphoproliferative disorders. (12153163)
2002
18
Fractionated cyclophosphamide, vincristine, liposomal daunorubicin (daunoXome), and dexamethasone (hyperCVXD) regimen in Richter's syndrome. (11699397)
2001
19
Richter's syndrome following cladribine therapy for chronic lymphocytic leukemia first manifested as pathologic fracture of the femur. (11697509)
2001
20
Allogeneic haematopoietic transplantation for Richter's syndrome. (11054078)
2000
21
Hypercalcemia in a patient with chronic lymphocytic leukemia evolving into Richter's syndrome. (9172822)
1996
22
Richter's syndrome. Findings on Ga-67 and bone marrow imaging. (8925617)
1996
23
B-cell chronic lymphocytic leukemia followed by high grade T-cell lymphoma. An unusual variant of Richter's syndrome. (7872259)
1995
24
Richter's syndrome showing pronounced lymphadenopathy in response to administration of granulocyte colony-stimulating factor. (7520793)
1994
25
Molecular genetic demonstration of the diverse evolution of Richter's syndrome (chronic lymphocytic leukemia and subsequent large cell lymphoma). (8118038)
1994
26
Common clonal origin of chronic lymphocytic leukemia and high-grade lymphoma of Richter's syndrome. (7693038)
1993
27
Serial phenotypic, cytogenetic and molecular genetic studies in Richter's syndrome: demonstration of lymphoma development from the chronic lymphocytic leukaemia cells. (8136284)
1993
28
Richter's syndrome: a report on 39 patients. (8410123)
1993
29
The clonal origin of two cell populations in Richter's syndrome. (2361698)
1990
30
Single clonal origin of neoplastic B-cells with different immunoglobulin light chains in a patient with Richter's syndrome. (2112977)
1990
31
Focal Candida hepatitis in a patient with Richter's syndrome. (2234526)
1990
32
Immunophenotypic and gene probe analysis of a case of Richter's syndrome. (2644809)
1989
33
Richter's syndrome presenting as a solitary cutaneous nodule. (2645227)
1989
34
Intestinal lymphoma in a patient with chronic lymphocytic leukemia of atypical phenotype: Richter's syndrome of unusual presentation. (3138873)
1988
35
Central nervous system involvement in a patient with chronic lymphocytic leukemia and non-Hodgkin's lymphoma (Richter's syndrome), with concordant cell surface immunoglobulin isotypic and immunophenotypic markers. (3341285)
1988
36
Large cell transformation of subclinical small lymphocytic leukemia/lymphoma: a variant of Richter's syndrome. (3498675)
1987
37
Analysis with antiidiotype antibody of a patient with chronic lymphocytic leukemia and a large cell lymphoma (Richter's syndrome). (3297206)
1987
38
A reappraisal of Richter's syndrome. Development of two phenotypically distinctive cell lines in a case of chronic lymphocytic leukemia. (3545438)
1987
39
Clinicopathological aspects of Richter's syndrome. (2444510)
1987
40
Gastrointestinal Richter's syndrome. (3770738)
1986
41
Philadelphia (Ph), 14q+ and 1q+ chromosomes in immunoblastic phase (Richter's syndrome) in a patient with T chronic lymphocytic leukaemia. (3093326)
1986
42
Richter's syndrome mimicking chronic colitis. A patient with diffuse histiocytic lymphoma complicating chronic lymphocytic leukemia. (3943435)
1986
43
Gastrointestinal Richter's syndrome. (4018784)
1985
44
A subpopulation of suppressor cells in Richter's syndrome with both monocytic and T-lymphocytic characteristics. (2932910)
1985
45
Richter's syndrome with different immunoglobulin light chains and different heavy chain gene rearrangements. (6331551)
1984
46
Case 31-1983: Richter's syndrome. (6606779)
1983
47
Cytogenetic evidence for the clonal nature of Richter's syndrome. (7016217)
1981
48
Malignant lymphoma supervening in chronic lymphocytic leukemia and related disorders. Richter's syndrome: a study of 25 cases. (7023653)
1981
49
Richter's syndrome with identification of marker chromosomes. (6992973)
1980
50
Apparent clinical remission in chronic lymphocytic leukemia with terminal features of Richter's syndrome. (6778786)
1980

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
110.2CSF2, CD5, CD38
2
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10.2CDKN2A, CDKN1A, BCR
3
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10.2CDKN1A, CDKN2A, ATM
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
710.1NOTCH1, CDKN1A, CDKN2A, ATM
810.1CDKN1A, CDKN2A, ATM, CSF2

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