Chromosomal Disease

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Disease

MalaCards integrated aliases for Chromosomal Disease:

Name: Chromosomal Disease 12 14
Congenital Chromosomal Disease 69
Chromosomal Disorders 51


External Ids:

Disease Ontology 12 DOID:0080014
ICD10 32 Q99.9
UMLS 69 C0008626

Summaries for Chromosomal Disease

Disease Ontology : 12 A genetic disease that has material basis in extra, missing, or re-arranged chromosomes.

MalaCards based summary : Chromosomal Disease, also known as congenital chromosomal disease, is related to down syndrome and mosaic variegated aneuploidy syndrome 1. An important gene associated with Chromosomal Disease is AFP (Alpha Fetoprotein), and among its related pathways/superpathways are Circadian rythm related genes and A-beta Pathways: Plaque Formation and APP Metabolism. The drugs Cetrorelix and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include myeloid, testes and brain, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Chromosomal Disease

Graphical network of the top 20 diseases related to Chromosomal Disease:

Diseases related to Chromosomal Disease

Symptoms & Phenotypes for Chromosomal Disease

MGI Mouse Phenotypes related to Chromosomal Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 AFP APP BACE1 DSCAM DYRK1A GABRB3
2 growth/size/body region MP:0005378 10.22 UBE3A APP BACE1 DSCAM DYRK1A GABRB3
3 cellular MP:0005384 10.17 GTF2I GTF2IRD1 MAGEL2 NDN RCAN1 UBE3A
4 mortality/aging MP:0010768 10.17 AFP APP BACE1 DSCAM DYRK1A GABRB3
5 homeostasis/metabolism MP:0005376 10.15 AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
6 nervous system MP:0003631 10 APP BACE1 DSCAM DYRK1A GABRB3 GTF2I
7 no phenotypic analysis MP:0003012 9.76 APP BACE1 DSCAM GABRB3 GTF2I GTF2IRD1
8 normal MP:0002873 9.61 PAPPA RAI1 APP BACE1 GABRB3 GATA1
9 reproductive system MP:0005389 9.28 AFP APP DSCAM DYRK1A GABRB3 GTF2I

Drugs & Therapeutics for Chromosomal Disease

Drugs for Chromosomal Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 452)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 25074887 16129715
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
Asparaginase Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9015-68-3
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 657311 5754
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 58-22-0 6013
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
Ganirelix Approved Phase 4,Phase 3 124904-93-4, 123246-29-7 25081094
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
Dalteparin Approved Phase 4 9005-49-6
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 65271-80-9 4212
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
Celiprolol Approved, Investigational Phase 4 56980-93-9
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1 58-18-4 6010
Methylphenidate Approved, Investigational Phase 4,Phase 2 20748-11-2, 113-45-1 4158
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 143 6006
Lactitol Investigational Phase 4 585-86-4 3871
Butyric Acid Experimental, Investigational Phase 4,Phase 3,Phase 2 107-92-6 264
35 Fertility Agents Phase 4,Phase 3
36 Follicle Stimulating Hormone Phase 4
37 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
38 Hormones Phase 4,Phase 3,Phase 2,Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
40 Progestins Phase 4,Phase 3
41 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
43 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1
44 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3
45 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
46 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1 123596
47 Deslorelin Phase 4,Phase 3
48 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
49 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1
50 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1 979-32-8

Interventional clinical trials:

(show top 50) (show all 754)

# Name Status NCT ID Phase Drugs
1 Assessment of Implantation Potential of Embryos by Time-lapse Technology Unknown status NCT01760278 Phase 4 recombinant Follicle Stimulating Hormone (rFSH)
2 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4 Idarubicin(IDA)
3 Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation Unknown status NCT01243489 Phase 4
4 Embryo Aneuploidies and Ovarian Stimulation Completed NCT00707525 Phase 4
5 Near Infrared Spectroscopy (NIRS) and Superior Mesenteric Artery (SMA) Doppler Patterns as Predictor of Feeding Tolerance in Very Low Birth Weight (VLBW) IntraUterine Growth Restricted (IUGR) and NON IUGR Infants Completed NCT01341236 Phase 4
6 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4 LMWH+Folic acid;Folic Acid
7 Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase Completed NCT01061177 Phase 4 Nilotinib
8 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
10 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
11 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
12 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
13 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
14 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
15 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
16 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
17 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
18 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
19 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
20 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
21 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4 Nilotinib
22 Study of Molecular Response in Adult Patients on Nilotinib With Philadelphia Chromosome Positive Chronic Myelogenous Leukemia (Ph+ CML) in Chronic Phase and a Suboptimal Molecular Response to Imatinib Completed NCT00644878 Phase 4 Nilotinib
23 LAL-Ph-2000: Treatment of Acute Lymphoblastic Leukemia Chromosome Philadelphia Positive Completed NCT00526305 Phase 4 Vincristine;Daunorubicin;Prednisone;L-Asparaginase;Mitoxantrone;Cytosine Arabinoside;Hydrocortisone;Mercaptopurine;Cyclophosphamide;Dexamethasone
24 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
25 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML) Completed NCT00171899 Phase 4 imatinib mesylate
26 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4 Lovastatin
27 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
28 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
29 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
30 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
31 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
32 Safety And Efficacy Study Of Bosutinib In Patients With Philadelphia Chromosome Positive Chronic Myeloid Leukemia Previously Treated With One Or More Tyrosine Kinase Inhibitors Active, not recruiting NCT02228382 Phase 4 Bosutinib
33 Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Not yet recruiting NCT02389920 Phase 4 Nilotinib
34 Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age Suspended NCT00646893 Phase 4
35 Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib Terminated NCT00461929 Phase 4
36 LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) Terminated NCT01198054 Phase 4 Lenalidomide
37 A Study of the Effects of a Novel Ovarian Stimulation Regimen on Embryo Aneuploidy Rates in In Vitro Fertilization (IVF) Terminated NCT00866008 Phase 4 Ovarian stimulation
38 Impact of Parental Support on Pregnancy Outcomes (IPSO) Trial- Day 3 Preimplantation Genetic Screening (PGS) With Day 5 Fresh Transfer Terminated NCT01194531 Phase 4
39 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
40 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
41 Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
42 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
43 The Results of Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening of Embryos Obtained From GnRH-agonist Long and GnRH-antagonist Ovarian Stimulation Protocol Unknown status NCT01636505 Phase 3 ghrh antagonist (cetrotide/orgalutran);gnrh agonist (suprefact)
44 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion Unknown status NCT00966810 Phase 2, Phase 3
45 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Unknown status NCT02204163 Phase 3 Eutropin;Genotropin
46 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
47 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
48 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
49 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
50 Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality Completed NCT00179621 Phase 3 Lenalidomide 5 mg;Lenalidomide 10 mg;Placebo

Search NIH Clinical Center for Chromosomal Disease

Genetic Tests for Chromosomal Disease

Anatomical Context for Chromosomal Disease

MalaCards organs/tissues related to Chromosomal Disease:

Myeloid, Testes, Brain, Bone, Thymus, T Cells, B Cells

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

# Title Authors Year
Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism? ( 24078047 )
The ultrasound markers of chromosomal disease: a retrospective study. ( 8319061 )
Quantitative histology of human fetal testes in chromosomal disease. ( 2937030 )
Risk of chromosomal disease due to radiation. Tentative estimate from the study of radiation-induced translocations in human fibroblasts. ( 6828069 )
Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man. ( 7266558 )
Chromosomal disease and strabismus. ( 900613 )

Variations for Chromosomal Disease

Expression for Chromosomal Disease

Search GEO for disease gene expression data for Chromosomal Disease.

Pathways for Chromosomal Disease

Pathways related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
2 10.32 APP BACE1

GO Terms for Chromosomal Disease

Cellular components related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.92 APP BACE1 DSCAM DYRK1A

Biological processes related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rhythmic process GO:0048511 9.33 MAGEL2 RAI1 UBE3A
2 cellular protein metabolic process GO:0044267 9.26 AFP APP BACE1 PAPPA
3 transition between slow and fast fiber GO:0014886 8.62 GTF2I GTF2IRD1

Sources for Chromosomal Disease

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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