MCID: CHR208
MIFTS: 21

Chromosome 17p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 17p Deletion

MalaCards integrated aliases for Chromosome 17p Deletion:

Name: Chromosome 17p Deletion 20 29
Chromosome 17p Deletion Syndrome 70
Loss of Chromosome 17p 70
Partial Monosomy 17p 20
17p Deletion 20
17p Monosomy 20
Deletion 17p 20
Monosomy 17p 20

Classifications:



External Ids:

UMLS 70 C1517965 C3683846

Summaries for Chromosome 17p Deletion

MalaCards based summary : Chromosome 17p Deletion, also known as chromosome 17p deletion syndrome, is related to smith-magenis syndrome and leukemia. An important gene associated with Chromosome 17p Deletion is MIR21 (MicroRNA 21). The drugs Venetoclax and Obinutuzumab have been mentioned in the context of this disorder. Affiliated tissues include myeloid.

Related Diseases for Chromosome 17p Deletion

Diseases related to Chromosome 17p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 smith-magenis syndrome 11.4
2 leukemia 10.4
3 myelodysplastic syndrome 10.2
4 myeloma, multiple 10.2
5 lissencephaly 10.2
6 leukemia, acute myeloid 10.2
7 b-cell lymphoma 10.2
8 myeloid leukemia 10.2
9 medulloblastoma 10.1
10 chromosomal triplication 10.1
11 graft-versus-host disease 10.0
12 diffuse large b-cell lymphoma 10.0
13 lymphoma 10.0
14 neutropenia 10.0
15 richter's syndrome 10.0
16 essential thrombocythemia 10.0
17 ring chromosome 10.0
18 leukemia, chronic lymphocytic 10.0
19 lymphoblastic lymphoma 10.0
20 tetralogy of fallot 10.0
21 digeorge syndrome 10.0
22 osteogenic sarcoma 10.0
23 scott syndrome 10.0
24 hydronephrosis 10.0
25 teratoma 10.0
26 polyhydramnios 10.0
27 chromosome 10q duplication 10.0
28 colpocephaly 10.0
29 pachygyria 10.0
30 sacrococcygeal teratoma 10.0
31 trisomy 1q 10.0
32 neuropathy, hereditary, with liability to pressure palsies 9.9
33 pelger-huet anomaly 9.9
34 anemia, autoimmune hemolytic 9.9
35 miller-dieker lissencephaly syndrome 9.9
36 polycythemia vera 9.9
37 tumor predisposition syndrome 9.9
38 cutaneous telangiectasia and cancer syndrome, familial 9.9
39 deficiency anemia 9.9
40 mantle cell lymphoma 9.9
41 marginal zone b-cell lymphoma 9.9
42 splenic marginal zone lymphoma 9.9
43 plasmablastic lymphoma 9.9
44 prolymphocytic leukemia 9.9
45 charcot-marie-tooth disease 9.9
46 tooth disease 9.9
47 acute leukemia 9.9
48 toxic shock syndrome 9.9
49 thrombocytopenia 9.9
50 plasmacytoma 9.9

Graphical network of the top 20 diseases related to Chromosome 17p Deletion:



Diseases related to Chromosome 17p Deletion

Symptoms & Phenotypes for Chromosome 17p Deletion

Drugs & Therapeutics for Chromosome 17p Deletion

Drugs for Chromosome 17p Deletion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Venetoclax Approved, Investigational Phase 3 1257044-40-8 49846579
2
Obinutuzumab Approved, Investigational Phase 3 949142-50-1
3 Alkylating Agents Phase 3
4 Bendamustine Hydrochloride Phase 3
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Pomalidomide Approved Phase 2 19171-19-8
7
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
9
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
10
Ichthammol Approved Phase 1, Phase 2 8029-68-3
11
Ixazomib Approved, Investigational Phase 1, Phase 2 1072833-77-2
12
nivolumab Approved Phase 2 946414-94-4
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Idelalisib Approved Phase 2 870281-82-6
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
18
ofatumumab Approved Phase 2 679818-59-8 6918251
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
21
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
22
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
23
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
24
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
25
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
26 Angiogenesis Inhibitors Phase 2
27
protease inhibitors Phase 1, Phase 2
28 Citrate Phase 1, Phase 2
29 BB 1101 Phase 1, Phase 2
30 Neurotransmitter Agents Phase 1, Phase 2
31 Dermatologic Agents Phase 1, Phase 2
32 HIV Protease Inhibitors Phase 1, Phase 2
33 Antineoplastic Agents, Immunological Phase 2
34 Gastrointestinal Agents Phase 2
35 Antiemetics Phase 2
36 Hormones Phase 2
37 Hormone Antagonists Phase 2
38 glucocorticoids Phase 2
39 Anti-Inflammatory Agents Phase 2
40 Antineoplastic Agents, Hormonal Phase 2
41 Antirheumatic Agents Phase 2
42 Immunologic Factors Phase 2
43 Methylprednisolone Acetate Phase 2
44 Neuroprotective Agents Phase 2
45 Protective Agents Phase 2

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Open Label Single Arm Phase IV Clinical Trial to Assess Safety of ImbruvicaTM (Ibrutinib Capsules 140 mg) in Indian Patients With Chronic Lymphocytic Leukemia or Mantle Cell Lymphoma Who Have Received at Least One Prior Therapy or Chronic Lymphocytic Leukemia With 17p Deletion Recruiting NCT03190330 Phase 4 Ibrutinib 420 mg;Ibrutinib 560 mg
2 Open-Label, Single Arm, Phase 3b, Multi-Center Study Evaluating the Impact of Venetoclax on the Quality of Life of Relapsed/Refractory Subjects With Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT02980731 Phase 3 Venetoclax
3 A Phase 3b Study in Previously Untreated Chronic Lymphocytic Leukemia (CLL) Subjects, Excluding Those With the 17p Deletion, to Evaluate Debulking Regimens Prior to Initiating Venetoclax Combination Therapy Active, not recruiting NCT03406156 Phase 3 Obinutuzumab;Bendamustine;Venetoclax
4 A Prospective, Multi-center Phase II Study of Subcutaneous Alemtuzumab Combined With Oral Dexamethasone, Followed by Alemtuzumab Maintenance or Allogeneic Stem-cell Transplantation, in Chronic Lymphocytic Leukemia Which is Associated With 17p Deletion or is Refractory to Fludarabine Completed NCT01392079 Phase 2 Alemtuzumab
5 An Open-label, Single Arm, Multicenter Phase 2 Study of the Bruton's Tyrosine Kinase Inhibitor PCI-32765 (Ibrutinib) in Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma With 17p Deletion (RESONATE™-17) Completed NCT01744691 Phase 2 Ibrutinib
6 A Multicenter Open Label Phase II Study of Pomalidomide and Dexamethasone in Progressive Relapsed or Refractory Multiple Myeloma Patients With Deletion 17p or Translocation (4;14) Adverse Karyotypic Abnormalities-IFM2010-02 Completed NCT01745640 Phase 2 POMALIDOMIDE;Dexamethasone
7 A Phase 2 Open-Label Study of the Efficacy of ABT-199 (GDC-0199) in Subjects With Relapsed/Refractory or Previously Untreated Chronic Lymphocytic Leukemia Harboring the 17p Deletion Completed NCT01889186 Phase 2 ABT-199
8 A Phase I/II Trial of Ruxolitinib (Jakafi) in Patients With Chronic Lymphocytic Leukemia Who Are Unfit for Conventional First-line Therapy Due to Age or 17p Deletions Completed NCT02015208 Phase 1, Phase 2 Ruxolitinib
9 A Phase 2 Open-Label Study of the Efficacy of Venetoclax in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma in the Presence of 17p Deletion Recruiting NCT02966756 Phase 2 Venetoclax
10 A Phase II Study Using ACP-196 (Acalabrutinib) in Patients With Relapsed/Refractory and Treatment-naïve Deletion 17p CLL/SLL: Pharmacodynamic Assessment of BTK Inhibition and Antitumor Response. Active, not recruiting NCT02337829 Phase 2 Acalabrutinib;Acalabrutinib
11 Phase 1 / 2 Trial of Idasanutlin in Combination With Ixazomib and Dexamethasone in Patients With 17p Deleted, Relapsed Multiple Myeloma Active, not recruiting NCT02633059 Phase 1, Phase 2 Dexamethasone;Idasanutlin;Ixazomib Citrate
12 Nivolumab Combined With Ibrutinib for Relapsed, Refractory or High-Risk Untreated Patients With Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT02420912 Phase 2 Ibrutinib
13 A Prospective, Open-label, Multicentre Phase-II Trial of Ibrutinib Plus Venetoclax Plus Obinutuzumab in Physically Fit or Unfit Patients With Previously Untreated Chronic Lymphocytic Leukemia (Cll) With tp53 Deletion (17p-) and/or Mutation Active, not recruiting NCT02758665 Phase 2 ibrutinib;obinutuzumab;venetoclax
14 A Phase II Study of PCI-32765 for Patients With Chronic Lymphocytic Leukemia (CLL) or Small Lymphocytic Lymphoma (SLL) Who Need Therapy and Are Older Than 65 or Have a 17p Deletion Active, not recruiting NCT01500733 Phase 2 PCI 32765
15 A Phase 2, Single Arm Study Evaluating the Efficacy and Safety of Idelalisib in Combination With Rituximab in Patients With Previously Untreated Chronic Lymphocytic Leukemia With 17p Deletion Terminated NCT02044822 Phase 2 Idelalisib;Rituximab
16 A Phase II Study of Ofatumumab-High Dose Methylprednisolone Followed by Ofatumumab-Alemtuzumab in 17p Deletion CLL Terminated NCT01465334 Phase 2 Ofatumumab;High-Dose Methylprednisolone;Alemtuzumab

Search NIH Clinical Center for Chromosome 17p Deletion

Genetic Tests for Chromosome 17p Deletion

Genetic tests related to Chromosome 17p Deletion:

# Genetic test Affiliating Genes
1 Chromosome 17p Deletion 29

Anatomical Context for Chromosome 17p Deletion

MalaCards organs/tissues related to Chromosome 17p Deletion:

40
Myeloid

Publications for Chromosome 17p Deletion

Articles related to Chromosome 17p Deletion:

(show all 30)
# Title Authors PMID Year
1
Incorporating Novel Targeted and Immunotherapeutic Agents in Treatment of B-Cell Lymphomas. 61
33770460 2021
2
[Successful treatment with silver nitrate chemical cauterization for paronychia and granulation in a patient with chronic lymphocytic leukemia undergoing ibrutinib therapy]. 61
33551423 2021
3
Growth of pancreatic cancers with hemizygous chromosomal 17p loss of MYBBP1A can be preferentially targeted by PARP inhibitors. 61
33277249 2020
4
An Epigenetic Mechanism Underlying Chromosome 17p Deletion-Driven Tumorigenesis. 61
32978226 2020
5
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study. 61
32209572 2020
6
The impact of cytogenetic evolution and acquisition of del(17p) on the prognosis of patients with multiple myeloma. 61
32338840 2020
7
An Updated Perspective on Current Prognostic and Predictive Biomarkers in Chronic Lymphocytic Leukemia in the Context of Chemoimmunotherapy and Novel Targeted Therapy. 61
32272636 2020
8
Chronic lymphocytic leukemia with TP53 gene alterations: a detailed clinicopathologic analysis. 61
31477813 2020
9
Venetoclax for the Treatment of Chronic Lymphocytic Leukemia. 61
31512151 2019
10
Efficacy of venetoclax in relapsed chronic lymphocytic leukemia is influenced by disease and response variables. 61
31023700 2019
11
Ibrutinib and Venetoclax for First-Line Treatment of CLL. 61
31141631 2019
12
Comprehensive Safety Analysis of Venetoclax Monotherapy for Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia. 61
29895707 2018
13
Venetoclax-Rituximab in Relapsed or Refractory Chronic Lymphocytic Leukemia. 61
29562156 2018
14
Efficacy of Rituximab for Patients with Chronic Lymphocytic Leukemia. 61
29338825 2017
15
Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations. 61
27821812 2016
16
Targeting p53-deficient chronic lymphocytic leukemia cells in vitro and in vivo by ROS-mediated mechanism. 61
27655686 2016
17
Deletions linked to TP53 loss drive cancer through p53-independent mechanisms. 61
26982726 2016
18
Venetoclax Yields Strong Responses in CLL. 61
26701089 2016
19
Chromosome 17p deletion in a case of T-cell acute lymphoblastic lymphoma. 61
25195772 2015
20
Ibrutinib inhibits BCR and NF-κB signaling and reduces tumor proliferation in tissue-resident cells of patients with CLL. 61
24659631 2014
21
Younger patients with chronic lymphocytic leukemia benefit from rituximab treatment: A single center study in China. 61
23599777 2013
22
microRNA fingerprinting of CLL patients with chromosome 17p deletion identify a miR-21 score that stratifies early survival. 61
20393129 2010
23
Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter). 61
17295347 2007
24
Hedgehog checkpoints in medulloblastoma: the chromosome 17p deletion paradigm. 61
16290230 2005
25
Chromosome 17p deletion in human medulloblastoma: a missing checkpoint in the Hedgehog pathway. 61
15467454 2004
26
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. 61
14708103 2004
27
Molecular genetics of colorectal carcinoma. 61
1511369 1992
28
Morphologic, immunologic and cytogenetic studies in acute myeloid leukemia following occupational exposure to pesticides and organic solvents. 61
1528067 1992
29
Molecular genetic alterations as potential prognostic indicators in colorectal carcinoma. 61
1540900 1992
30
Monoallelic deletions of the P53 gene in Chinese patients with chronic myelogenous leukemia in blastic crisis. 61
1818302 1991

Variations for Chromosome 17p Deletion

Expression for Chromosome 17p Deletion

Search GEO for disease gene expression data for Chromosome 17p Deletion.

Pathways for Chromosome 17p Deletion

GO Terms for Chromosome 17p Deletion

Sources for Chromosome 17p Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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