MAR
MCID: 5QS001
MIFTS: 45

5q- Syndrome (MAR) malady

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Summaries for 5q- Syndrome

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65Wikipedia, 33MalaCards
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Wikipedia:65 Chromosome 5q deletion syndrome (chromosome 5q monosomy, 5q- syndrome) is an acquired, hematological... more...

MalaCards: 5q- Syndrome, also known as 5q syndrome, is related to myelodysplastic syndromes and refractory anemia. An important gene associated with 5q- Syndrome is CSF2 (colony stimulating factor 2 (granulocyte-macrophage)), and among its related pathways are Transcriptional misregulation in cancer and Endocytosis. The compounds bryostatin 1 and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and skin, and related mouse phenotypes are liver/biliary system and immune system.

Aliases & Classifications for 5q- Syndrome

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43NIH Rare Diseases, 22GTR, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

5q- syndrome 43 45
5q syndrome 43 22
refractory macrocytic anemia due to 5q deletion 43
5q deletion syndrome 43
5q minus syndrome 43
mar 43


Related Diseases for 5q- Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to 5q- Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndromes30.4CSF1R, CSF2, EPO
2refractory anemia30.2EPO, CSF2
3myeloid leukemia30.2CSF1R, CSF2
4leukemia30.2F2R, EPO, CSF2, CSF1R, KLF1
5pancytopenia30.0CSF2, EPO
6myeloproliferative disorder30.0EPO, CSF2
7thrombocytopenia29.9F2R, EPO, CSF2
8diamond-blackfan anemia10.2
9acute myeloid leukemia10.1
10multiple myeloma10.1
11myeloma10.1
12macrocytic anemia, refractory, due to 5q deletion, somatic10.1
13sickle cell disease10.1EPO
14chronic myelomonocytic leukemia10.0CSF1R, CSF2
15hematologic cancer10.0CSF1R, CSF2
16hodgkin's lymphoma10.0CSF1R, CSF2
17choriocarcinoma10.0CSF2, CSF1R
18cork-handlers' disease10.0CSF2, F2R
19pneumonia10.0CSF2, F2R
20thrombocytosis10.0CSF2, EPO
21aplastic anemia10.0CSF2, EPO
22hemoglobinopathy10.0KLF1, EPO
23beta thalassemia10.0KLF1, EPO
24neutropenia10.0CSF2, EPO
25alpha thalassemia10.0EPO, KLF1
26acute lymphocytic leukemia10.0CSF1R, CSF2
27eosinophilia10.0
28lymphoblastic leukemia10.0
29macrocytic anemia10.0
30purpura10.0
31shwachman-diamond syndrome10.0
32refractory anemia with excess blasts10.0
33refractory cytopenia with multilineage dysplasia10.0
34chronic myeloid leukemia10.0CSF2, EPO
35kidney cancer10.0CSF1R, CSF2, F2R
36factor v leiden thrombophilia10.0F2R, EPO
37melanoma10.0CSF1R, CSF2, F2R
38sepsis10.0CSF2, F2R
39acute leukemia10.0EPO, CSF2, CSF1R
40chronic kidney failure10.0F2R, EPO
41acute erythroid leukemia9.9KLF1, CSF2, EPO, F2R
42deficiency anemia9.8F2R, EPO, CSF2, CSF1R, KLF1

Graphical network of the top 20 diseases related to 5q- Syndrome:



Diseases related to 5q- syndrome

Symptoms for 5q- Syndrome

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Drugs & Therapeutics for 5q- Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for 5q- Syndrome

Search NIH Clinical Center for 5q- Syndrome

Genetic Tests for 5q- Syndrome

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22GTR
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Genetic tests related to 5q- Syndrome:

id Genetic test Affiliating Genes
1 5q- Syndrome22

Anatomical Context for 5q- Syndrome

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33MalaCards
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MalaCards organs/tissues related to 5q- Syndrome:

33
Myeloid, Bone, Skin, B cells, Bone marrow

Animal Models for 5q- Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to 5q- Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5KLF1, EPO, F2R
2MP:00053878.3F2R, CSF2, CSF1R, KLF1
3MP:00107718.2EPO, CSF2, CSF1R, KLF1
4MP:00053808.1KLF1, CSF2, EPO, F2R
5MP:00053847.8CSF1R, CSF2, EPO, F2R
6MP:00053977.7KLF1, CSF1R, CSF2, EPO, F2R
7MP:00053767.7F2R, EPO, CSF2, CSF1R, KLF1
8MP:00107687.6KLF1, CSF1R, CSF2, EPO, F2R

Publications for 5q- Syndrome

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52PubMed
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Articles related to 5q- Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. (23943650)
2013
2
Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. (23337929)
2013
3
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. (22965552)
2013
4
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. (23031788)
2013
5
Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts. (22430631)
2012
6
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. (21930148)
2012
7
Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway. (23213547)
2012
8
5q- syndrome. (22571696)
2012
9
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
10
The 5q- syndrome: biology and treatment. (21964863)
2011
11
Unexpected erythroid and cytogenetic responses after discontinuation of a short course of lenalidomide as a result of severe skin rash in a patient with 5q syndrome. (21357784)
2011
12
New insights into 5q- syndrome as a ribosomopathy. (20980806)
2010
13
Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization. (21156233)
2010
14
Closing in on the pathogenesis of the 5q- syndrome. (20469997)
2010
15
JAK2 V617F mutation is associated with 5q- syndrome in Chinese. (19562618)
2009
16
Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression. (19797731)
2009
17
The 5q- syndrome. (18283785)
2008
18
Lessons from a Jehovah's Witness with 5q- syndrome: role of systemic immunosuppression and kinetics of recovery with lenalidomide from a life threatening anaemia. (18510684)
2008
19
Revealing the pathogenesis of the 5q- syndrome. (18717823)
2008
20
Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes. (18477045)
2008
21
Lack of RPS14 promoter aberrant methylation supports the haploinsufficiency model for the 5q- syndrome. (18650472)
2008
22
Myelodysplastic syndrome with isolated 5q deletion (5q- syndrome). A clonal stem cell disorder characterized by defective ribosome biogenesis. (18591621)
2008
23
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. (18202658)
2008
24
Common deleted genes in the 5q- syndrome: thrombocytopenia and reduced erythroid colony formation in SPARC null mice. (17625608)
2007
25
Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients. (17576924)
2007
26
The 5q- syndrome and autoimmune phenomena: report of three cases. (16219353)
2006
27
Treatment of the 5q- syndrome. (17124060)
2006
28
Defective expression of the dihydrofolate reductase gene in patients with the 5q- syndrome. (12681977)
2003
29
Pathology case of the month. Elderly woman with fatigue. The 5q- Syndrome. (12236399)
2002
30
Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. (12036901)
2002
31
Multilineage involvement in the 5q- syndrome: a fluorescent in situ hybridization study on bone marrow smears. (11325642)
2001
32
Simultaneous occurrence of the 5q- syndrome and multiple myeloma. (10762305)
2000
33
Deletion of 5q31 is observed in megakaryocytic cells in patients with myelodysplastic syndromes and a del(5q), including the 5q- syndrome. (11066080)
2000
34
5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: a case report. (10814992)
2000
35
The human POP2 gene: identification, sequencing, and mapping to the critical region of the 5q- syndrome. (10036195)
1999
36
5q- in a child with refractory anemia with excess blasts: similarities to 5q- syndrome in adults. (9723027)
1998
37
Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome. (9624537)
1998
38
5q- syndrome in a child. (7736428)
1995
39
Clonal evolution in a transforming 5q- syndrome. (8152269)
1994
40
Molecular mapping of uncharacteristically small 5q deletions in two patients with the 5q- syndrome: delineation of the critical region on 5q and identification of a 5q- breakpoint. (8188284)
1994
41
The 5q- syndrome: a single-institution study of 43 consecutive patients. (8427985)
1993
42
c-kit ligand augments granulocyte-macrophage colony growth from patients with 5q- syndrome. (7509225)
1993
43
Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome. (8219215)
1993
44
5q- syndrome: complete response to chemotherapy. (2344709)
1990
45
Application of megakaryocytic morphology in diagnosing 5q- syndrome. (3208866)
1988
46
Interleukin-5 is at 5q31 and is deleted in the 5q- syndrome. (3258537)
1988
47
5q- syndrome terminating in acute myeloid leukemia. Karyotype evolution and immunologic characterization of blast cells. (3163260)
1988
48
Progressive preleukemia presenting amegakaryocytic thrombocytopenic purpura: association of the 5q- syndrome with a decreased megakaryocytic colony formation and a defective production of Meg-CSF. (3498097)
1987
49
Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome. (4028159)
1985
50
The 5q--syndrome: an underdiagnosed form of macrocytic anaemia. (6849830)
1983

Variations for 5q- Syndrome

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Expression for genes affiliated with 5q- Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 5q- Syndrome

Search GEO for disease gene expression data for 5q- Syndrome.

Pathways for genes affiliated with 5q- Syndrome

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN
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Pathways related to 5q- Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CSF1R, CSF2
29.3CSF1R, F2R
3
Show member pathways
Type III interferon signaling38
9.2CSF2, EPO
4
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.0EPO, F2R
5
Show member pathways
8.7EPO, CSF2, CSF1R
68.7CSF1R, CSF2, EPO
78.5F2R, EPO, CSF1R
8
Show member pathways
8.5CSF1R, EPO, F2R

Compounds for genes affiliated with 5q- Syndrome

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 3BitterDB, 29IUPHAR, 24HMDB
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Compounds related to 5q- Syndrome according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1bryostatin 1459.9CSF1R, CSF2
21,25 dihydroxy vitamin d3459.8CSF1R, CSF2
3phorbol459.8CSF1R, CSF2
4fluoride459.8F2R, CSF2
5pegfilgrastim45 1110.6CSF2, EPO
6anagrelide45 1110.6CSF2, EPO
7pixy321459.6CSF2, EPO
8amifostine45 1110.6CSF2, EPO
9filgrastim45 1110.6CSF2, EPO
10herbimycin a45 6110.6CSF2, F2R
11methylcellulose459.6EPO, CSF2
12ribavirin45 51 1111.6CSF2, EPO
13melphalan45 51 1111.6CSF2, EPO
14thalidomide45 51 61 1112.5CSF2, EPO
15fmlp459.5F2R, CSF2
16zidovudine45 51 1111.5CSF2, EPO
17carboplatin45 51 1111.5EPO, CSF2
18hydroxyurea45 51 1111.5CSF2, EPO
19gp 130459.5CSF2, EPO
20thapsigargin45 6110.5CSF2, F2R
21agar459.5CSF1R, CSF2
22hydrocortisone45 3 61 1112.5CSF2, EPO
23ristocetin459.4F2R, EPO
24inositol459.4CSF2, EPO
25aspirin45 51 29 2412.4F2R, CSF2
26aprotinin45 1110.4EPO, F2R
27imatinib45 51 1111.3CSF1R, EPO
28dmso459.3F2R, CSF2, CSF1R
29pd 98,059459.3CSF1R, CSF2, F2R
30wortmannin459.3F2R, CSF2, CSF1R
31pge2459.3CSF1R, CSF2, F2R
32calcitriol45 61 24 1112.3CSF2, EPO
33dexamethasone45 51 29 1112.2F2R, CSF2, CSF1R
34glutamate459.2F2R, CSF2, CSF1R
35estrogen459.1F2R, CSF2, CSF1R
36retinoic acid45 2410.1CSF1R, CSF2, F2R
37gm-csf45 2910.1CSF1R, CSF2, EPO
38cytarabine45 51 1111.1EPO, CSF2, CSF1R
39gnrh459.1CSF2, EPO
40cysteine459.1F2R, CSF2, CSF1R
41phenylalanine459.0CSF1R, F2R
42bleomycin45 1110.0CSF2, EPO, F2R
43thymidine45 2410.0CSF2, EPO, F2R
44vitamin d458.5F2R, EPO, CSF2, CSF1R
45vegf458.5CSF1R, CSF2, EPO, F2R
46phosphatidylinositol458.5F2R, EPO, CSF2, CSF1R
47tyrosine458.4CSF1R, CSF2, EPO, F2R

GO Terms for genes affiliated with 5q- Syndrome

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16Gene Ontology
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Biological processes related to 5q- Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell migrationGO:0303359.3CSF1R, F2R
2positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.3CSF2, EPO
3erythrocyte maturationGO:0432499.3KLF1, EPO
4positive regulation of DNA replicationGO:0457409.3EPO, CSF2
5positive regulation of ERK1 and ERK2 cascadeGO:0703749.2F2R, CSF1R
6response to lipopolysaccharideGO:0324968.7EPO, F2R
7positive regulation of transcription, DNA-templatedGO:0458938.5KLF1, EPO, F2R
8positive regulation of cell proliferationGO:0082848.2CSF1R, CSF2, EPO, F2R

Products for genes affiliated with 5q- Syndrome

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Sources for 5q- Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet