MCID: RCH001
MIFTS: 48

Richter's Syndrome malady

Summaries for Richter's Syndrome

About this section
Sources:
42NIH Rare Diseases, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 60UMLS, 42NIH Rare Diseases, 39NCIt, 56SNOMED-CT
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Richter's Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Richter's Syndrome

Drug clinical trials:

Search ClinicalTrials for Richter's Syndrome

Search NIH Clinical Center for Richter's Syndrome

Search CenterWatch for Richter's Syndrome

Genetic Tests for Richter's Syndrome

About this section

Anatomical Context for Richter's Syndrome

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Richter's Syndrome:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
Autologous and allogeneic stem-cell transplantation for transformed chronic lymphocytic leukemia (Richter's syndrome): A retrospective analysis from the chronic lymphocytic leukemia subcommittee of the chronic leukemia working party and lymphoma working party of the European Group for Blood and Marrow Transplantation. (22547610)
2012
2
Richter's syndrome: CLL taking a turn for the worse. (23413593)
2012
3
Intrathecal liposomal cytarabine for treatment of leptomeningeal involvement in transformed (Richter's syndrome) and non-transformed B-cell chronic lymphocytic leukaemia in Spain: a report of seven cases. (20487439)
2010
4
Hodgkin's lymphoma variant of Richter's syndrome. (20437646)
2010
5
Richter's syndrome: a case report. (19204436)
2009
6
Clonality analysis and mutation status of IgVH genes in classic Richter's syndrome]. (19031714)
2008
7
Recent advances in the diagnosis and therapy of Richter's syndrome. (17673808)
2007
8
Chronic lymphocytic leukemia with osteolytic Richter's syndrome mimicking myeloma bone disease shows no over-expression of DKK1. (17065022)
2006
9
Richter's syndrome--the downside of fludarabine? (16111529)
2005
10
Cat scratch disease mimicking Richter's Syndrome in a patient with chronic lymphocytic leukemia. (15621836)
2005
11
Richter's syndrome presenting as a nasal lymphoma. (15223655)
2004
12
Second malignancies and Richter's syndrome in patients with chronic lymphocytic leukemia. (15763979)
2004
13
Richter's syndrome in the brain first manifested as an ischaemic stroke. (15360010)
2004
14
Hodgkin's type of Richter's syndrome in familial chronic lymphocytic leukemia treated with cladribine and cyclophosphamide. (12802926)
2003
15
Hodgkin's disease variant of Richter's syndrome: complete remission of the both malignancies after 14 years. (12911940)
2003
16
Richter's syndrome: a novel presentation. (12868708)
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
Genetic imbalances in progressed B-cell chronic lymphocytic leukemia and transformed large-cell lymphoma (Richter's syndrome). (12213724)
2002
19
Fractionated cyclophosphamide, vincristine, liposomal daunorubicin (daunoXome), and dexamethasone (hyperCVXD) regimen in Richter's syndrome. (11699397)
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
De novo CD5-positive and Richter's syndrome-associated diffuse large B cell lymphomas are genotypically distinct. (7541611)
1995
23
Richter's syndrome: report of a case. (8527977)
1995
24
Richter's syndrome showing pronounced lymphadenopathy in response to administration of granulocyte colony-stimulating factor. (7520793)
1994
25
Serial phenotypic, cytogenetic and molecular genetic studies in Richter's syndrome: demonstration of lymphoma development from the chronic lymphocytic leukaemia cells. (8136284)
1993
26
Centroblastic transformation of chronic lymphocytic leukaemia with primary skin involvement--cutaneous presentation of Richter's syndrome. (8348723)
1993
27
Richter's syndrome with different immunoglobulin light chain types. Molecular and cytogenetic features indicate a common clonal origin. (1575210)
1992
28
Genotypic analyses of Richter's syndrome. (1991269)
1991
29
The clonal origin of two cell populations in Richter's syndrome. (2361698)
1990
30
Hodgkin's disease variant of Richter's syndrome. Report of eight cases. (1689938)
1990
31
Richter's syndrome presenting as primary central nervous system lymphoma. Transformation of an identical clone. (2294692)
1990
32
Discordant differentiation antigen pattern in a case of Richter's syndrome with monoclonal idiotype expression and immunoglobulin gene rearrangement. (2386740)
1990
33
Focal Candida hepatitis in a patient with Richter's syndrome. (2234526)
1990
34
T cell malignancy in Richter's syndrome presenting as hyper IgM. Induction and characterization of a novel CD3+, CD4-, CD8+ T cell subset from phytohemagglutinin-stimulated patient's CD3+, CD4+, CD8+ leukemic T cells. (2523311)
1989
35
Immunophenotypic and gene probe analysis of a case of Richter's syndrome. (2644809)
1989
36
Intestinal lymphoma in a patient with chronic lymphocytic leukemia of atypical phenotype: Richter's syndrome of unusual presentation. (3138873)
1988
37
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
38
Central nervous system involvement in a patient with chronic lymphocytic leukemia and non-Hodgkin's lymphoma (Richter's syndrome), with concordant cell surface immunoglobulin and immunophenotypic markers. (3195506)
1988
39
Endobronchial Richter's syndrome. A rare manifestation of chronic lymphocytic leukemia. (3202472)
1988
40
Clinicopathological aspects of Richter's syndrome. (2444510)
1987
41
Reed-Sternberg-like cells in Richter's syndrome express granulocytic-associated-antigen (Leu-M1) (3706214)
1986
42
Richter's syndrome mimicking chronic colitis. A patient with diffuse histiocytic lymphoma complicating chronic lymphocytic leukemia. (3943435)
1986
43
A subpopulation of suppressor cells in Richter's syndrome with both monocytic and T-lymphocytic characteristics. (2932910)
1985
44
Richter's syndrome presenting as a facial swelling. (6355955)
1983
45
Richter's syndrome. Evidence for the clonal origin of the two proliferations. (6169275)
1981
46
Cytogenetic evidence for the clonal nature of Richter's syndrome. (7016217)
1981
47
Prolonged survival of a patient with Richter's syndrome. Report of a 10-year follow-up. (7028322)
1981
48
Malignant lymphoma supervening in chronic lymphocytic leukemia and related disorders. Richter's syndrome: a study of 25 cases. (7023653)
1981
49
Apparent clinical remission in chronic lymphocytic leukemia with terminal features of Richter's syndrome. (6778786)
1980
50
Richter's syndrome in chronic lymphocytic leukemia. (6770990)
1980

Genetic Variations for Richter's Syndrome

About this section

Expression for genes affiliated with Richter's Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Richter's Syndrome

Search GEO for disease gene expression data for Richter's Syndrome.

Pathways for genes affiliated with Richter's Syndrome

About this section
Sources:
29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 53Reactome
See all sources

Pathways related to Richter's Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Richter's Syndrome

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Richter's Syndrome

About this section
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