Chromosome 12p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 12p Deletion

MalaCards integrated aliases for Chromosome 12p Deletion:

Name: Chromosome 12p Deletion 54 30
Loss of Chromosome 12p 74
Partial Monosomy 12p 54
12p Deletion 54
12p Monosomy 54
Deletion 12p 54
Monosomy 12p 54


External Ids:

UMLS 74 C1517955

Summaries for Chromosome 12p Deletion

MalaCards based summary : Chromosome 12p Deletion, also known as loss of chromosome 12p, is related to distal monosomy 12p and chromosomal triplication. The drugs Oxazepam and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone.

Related Diseases for Chromosome 12p Deletion

Diseases related to Chromosome 12p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 distal monosomy 12p 11.2
2 chromosomal triplication 10.3
3 chromosome 12q duplication 10.2
4 leukemia 10.1
5 lymphocytic leukemia 10.1
6 chromosome 11q duplication 10.0
7 germ cells tumors 10.0
8 myeloma, multiple 10.0
9 leukemia, acute lymphoblastic 10.0
10 acute lymphoblastic leukemia, childhood 10.0
11 acute lymphocytic leukemia 10.0
12 autism 9.9
13 autism spectrum disorder 9.9
14 microcephaly 9.9
15 dandy-walker complex 9.9

Graphical network of the top 20 diseases related to Chromosome 12p Deletion:

Diseases related to Chromosome 12p Deletion

Symptoms & Phenotypes for Chromosome 12p Deletion

Drugs & Therapeutics for Chromosome 12p Deletion

Drugs for Chromosome 12p Deletion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 227)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Oxazepam Approved Phase 4 604-75-1 4616
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
Sodium oxybate Approved Phase 4 502-85-2 5360545
Povidone Approved Phase 4 9003-39-8
Metformin Approved Phase 4,Phase 1,Phase 2 657-24-9 14219 4091
Clarithromycin Approved Phase 4 81103-11-9 84029
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9 Anti-Infective Agents, Local Phase 4
10 Central Nervous System Depressants Phase 4
11 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Psychotropic Drugs Phase 4,Not Applicable
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Anesthetics Phase 4
15 Anesthetics, Intravenous Phase 4
16 Anti-Anxiety Agents Phase 4
17 Adjuvants, Anesthesia Phase 4
18 GABA Modulators Phase 4
19 Anesthetics, General Phase 4
20 GABA Agents Phase 4
21 Hypnotics and Sedatives Phase 4
22 Tranquilizing Agents Phase 4
23 Vaccines Phase 4,Phase 1,Phase 2
24 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Micronutrients Phase 4,Not Applicable
26 Calcium, Dietary Phase 4
27 Hormones Phase 4,Phase 2,Not Applicable
28 Nutrients Phase 4,Not Applicable
29 Trace Elements Phase 4,Not Applicable
30 Vitamins Phase 4,Not Applicable
31 Ergocalciferols Phase 4
32 Vitamin D2 Phase 4
33 Calciferol Phase 4,Not Applicable
34 Bone Density Conservation Agents Phase 4
35 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Not Applicable
36 Hypoglycemic Agents Phase 4,Phase 1,Phase 2
37 Cytochrome P-450 Enzyme Inhibitors Phase 4
38 Cytochrome P-450 CYP3A Inhibitors Phase 4
Idarubicin Approved Phase 3 58957-92-9 42890
Etoposide Approved Phase 3,Phase 2,Not Applicable 33419-42-0 36462
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 6436030 5284616
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
tannic acid Approved Phase 3 1401-55-4
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
Pancrelipase Approved, Investigational Phase 3,Phase 2 53608-75-6
49 Etoposide phosphate Phase 3,Phase 2,Not Applicable
50 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 Comparative Study of Gamma-hydroxy Butyrate Versus Oxazepam in the Treatment of Alcohol Withdrawal Syndrome Completed NCT02090504 Phase 4 Sodium Oxybate (SMO);Oxazepam
2 Bioequivalence of Ethylenediamine Dihydrochloride Study Completed NCT01798589 Phase 4 Ethylenediamine dihydrochloride
3 The Safety and Immune Response to Influenza Vaccination in Pregnant Women Completed NCT01514708 Phase 4
4 Effect of Paricalcitol on Markers of Inflammation in Hemodialysis Patients Completed NCT00294866 Phase 4 Paricalcitol
5 Metformin and Systemic Inflammation in HIV Recruiting NCT03774108 Phase 4 Metformin Hydrochloride 850 MG
6 Immunomodulatory Effect of Macrolides in Naturally Occurring Influenza Virus Infections in the Community Not yet recruiting NCT03824847 Phase 4 Clarithromycin 250 MG;Placebos
7 Effect of Aerobic Training in Moderate or Severe Asthmatic Patients Unknown status NCT02033122 Phase 3
8 Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result Completed NCT00146120 Phase 3 Idarubicin;Cytosin-Arabinosid;Etoposide;All-trans Retinoid acid
9 Determine the Safety and Efficacy of (R,R)-Formoterol in the Treatment of Subjects With COPD Completed NCT00064402 Phase 3 arformoterol tartrate inhalation solution;arformoterol tartrate inhalation solution;arformoterol tartrate inhalation solution;Salmeterol;Placebo
10 A Multicentre, Randomised, Open-label, Controlled, 12-month Follow-up Study to Assess Impact on Renal Function of an Immunosuppression Regimen Based on Tacrolimus Minimisation in Association With Everolimus in de Novo Liver Transplant Recipients. Completed NCT02040584 Phase 3 Minimisation of TAC;TAC + MMF + corticosteroids
11 Resection of the Nerve Plexus on the Right Half of Celiac and SMA Associated With Extended Pancreatoduodenectomy in the Surgical Treatment for Adenocarcinoma of the Head of Pancreas Recruiting NCT02514928 Phase 3
12 Cleansing of Suction Blood in Cardiac Surgery for Reduced Inflammatory Response Terminated NCT00159926 Phase 3
13 A Study of the Safety and Efficacy of Ustekinumab (CNTO 1275) in Participants With Crohn's Disease Completed NCT00265122 Phase 2 Ustekinumab 90 mg;Ustekinumab 4.5 mg/kg;Placebo SC;Placebo IV
14 A Safety and Efficacy Study of CNTO1275 in Patients With Multiple Sclerosis Completed NCT00207727 Phase 2 CNTO 1275
15 Fruit and Vegetable Extracts in Treating Patients With Stage I-IV, Stage IVA/IVB Head and Neck Cancer Completed NCT00064298 Phase 2
16 Resveratrol, Cardiovascular Risk Markers And Cognitive Performance In Patients With Schizophrenia Completed NCT02062190 Phase 2 resveratrol
17 Rituximab for Pulmonary Sarcoidosis Completed NCT00855205 Phase 2 Rituximab
18 Safety and Efficacy of Botulinum Toxin A Injection in Patients With Painful Artificial Knee Arthroplasty (TKA) Completed NCT00403273 Phase 2 Botulinum toxin A;Normal Saline
19 A Study To Evaluate The Mechanism Of Action Of CP-690,550 In Patients With Rheumatoid Arthritis Completed NCT00976599 Phase 2 CP-690,550 + methotrexate;Placebo + Methotrexate
20 A Study of Treatment With RO6864018 in Virologically Suppressed Participants With Chronic Hepatitis B Virus (HBV) Infection Completed NCT02391805 Phase 2 Entecavir;Placebo;RO6864018;Tenofovir
21 University of Wisconsin Meditation & Exercise Cold Study Completed NCT01654289 Phase 2
22 A Phase II, Dose Ranging Study Of CP-690,550 Eye Drops In Patients With Dry Eye Disease Completed NCT01135511 Phase 2 CP-690,550 Eye drops;CP-690,550 Eye drops;CP-690,550 Eye drops;CP-690,550 Eye drops-vehicle;Sodium Hyaluronate
23 Probiotics and Gut Health Recruiting NCT03418857 Phase 1, Phase 2 Yogurt smoothie with BB-12;Yogurt smoothie
24 Effects of Metformin in a Non-Diabetic Patient Population Recruiting NCT03772964 Phase 1, Phase 2 MetFORMIN Hydrochloride ER
25 Treatment of Human Cord Blood Mononuclear Cell for Delayed Encephalopathy After Carbon Monoxide Poisoning Recruiting NCT02952716 Phase 1, Phase 2
26 Therapeutic Vaccination in Treated HIV Disease Recruiting NCT03606213 Phase 1, Phase 2
27 A Phase 1/2 Safety Study of Intratumorally Dosed INT230-6 Recruiting NCT03058289 Phase 1, Phase 2 INT230-6
28 Allogeneic Bone Marrow-Derived Mesenchymal Stem Cell Therapy for Idiopathic Parkinson's Disease Active, not recruiting NCT02611167 Phase 1, Phase 2
29 Brentuximab Vedotin or Crizotinib and Combination Chemotherapy in Treating Patients With Newly Diagnosed Stage II-IV Anaplastic Large Cell Lymphoma Suspended NCT01979536 Phase 2 Brentuximab Vedotin;Crizotinib;Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Methotrexate
30 Cytoreductive Surgery(CRS) Plus Hyperthermic Intraoperative Peritoneal Chemotherapy(HIPC) With Cisplatin to Treat Peritoneal Carcinomatosis From Upper Gastrointestinal Cancer Terminated NCT01116791 Phase 2
31 Proof of Concept Trial of Gleevec (Imatinib) in Active Diffuse Scleroderma Terminated NCT01545427 Phase 2 Imatinib mesylate
32 Effect of Single Oral Dose BIRB 796 BS on Endotoxin-induced Inflammatory Responses in Healthy Human Subjects Completed NCT02211170 Phase 1 BIBR 796 BS, low dose;BIBR 796 BS, high dose;Placebo;Lipopolysaccharide
33 A Phase I, 2-part (Part 1 Being a Single Dose Escalation and Part 2, a Parallel Group) Study of Toll-like Receptor (TLR4) Agonist (GSK1795091) in Healthy Subjects Completed NCT02798978 Phase 1 GSK1795091;Placebo
34 PK/PD of EA-230 During Endotoxemia Completed NCT02629874 Phase 1 EA-230;Endotoxin;Placebo
35 Phase I Safety Study of Dendritic Cell Vaccine to Treat Patients With Hepatocellular Carcinoma Completed NCT01974661 Phase 1
36 Assess the Safety and Tolerability of Single and Multiple Ascending Doses of Oral RO7020531 in Chinese Healthy Participants Recruiting NCT03530917 Phase 1 RO7020531
37 A Study in Healthy Volunteers and in Participants With Chronic Hepatitis B to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple Doses of RO7020531 Recruiting NCT02956850 Phase 1 RO7020531
38 Phase I Study of Ipilimumab Combined With Whole Brain Radiation Therapy or Radiosurgery for Melanoma Active, not recruiting NCT01703507 Phase 1 Ipilimumab
39 Xanthohumol Metabolism and Signature Not yet recruiting NCT03735420 Phase 1 Xanthohumol;Placebo oral capsule
40 A Study to Evaluate the Safety and Tolerability of ONL1204 in Patients With Macula-off, Rhegmatogenous Retinal Detachment Not yet recruiting NCT03780972 Phase 1 ONL1204
41 Study to Examine the Cytokine Levels, Gene Expression and Safety of a Single Nasal Dose of JNJ-43260295, in Healthy Participants, and Atopic Participants With Mild to Mild-Persistent Asthma Terminated NCT02243189 Phase 1 JNJ-43260295;Placebo;Nasal Allergen Challenge
42 Maternal Serum Cytokine Levels and Angiogenic Factor Levels in IVF vs Spontaneously Conceived Pregnancies Unknown status NCT00837278
43 Genetic Disease Gene Identification Unknown status NCT00916903
44 Identification of Biomarkers in the Legal Medical Skin Wounds Unknown status NCT02898636
45 Exercise-induced Bronchoconstriction in School Children Unknown status NCT01798823
46 Cytokine and Body Composition's Changes in Overweight/Obese Women Unknown status NCT02766426 Not Applicable
47 Phase I Trial of Intratumoral pIL-12 Electroporation in Malignant Melanoma Completed NCT00323206 Not Applicable
48 Intra-arterial Melphalan in Treating Younger Patients With Unilateral Retinoblastoma Completed NCT02097134 Not Applicable Melphalan
49 Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers Completed NCT03186196 Not Applicable
50 Keratinocyte Growth Factor and Cytokines in Burns. Completed NCT01302223

Search NIH Clinical Center for Chromosome 12p Deletion

Genetic Tests for Chromosome 12p Deletion

Genetic tests related to Chromosome 12p Deletion:

# Genetic test Affiliating Genes
1 Chromosome 12p Deletion 30

Anatomical Context for Chromosome 12p Deletion

MalaCards organs/tissues related to Chromosome 12p Deletion:

Eye, Liver, Bone, Brain, Kidney, Skeletal Muscle, Small Intestine

Publications for Chromosome 12p Deletion

Articles related to Chromosome 12p Deletion:

# Title Authors Year
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature. ( 28503605 )
Heterogeneous chromosome 12p deletion is an independent adverse prognostic factor and resistant to bortezomib-based therapy in multiple myeloma. ( 25831238 )
Analysis of chromosome 12p deletion in plasma cell dyscrasias. ( 21982640 )

Variations for Chromosome 12p Deletion

Expression for Chromosome 12p Deletion

Search GEO for disease gene expression data for Chromosome 12p Deletion.

Pathways for Chromosome 12p Deletion

GO Terms for Chromosome 12p Deletion

Sources for Chromosome 12p Deletion

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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