MCID: CHR084
MIFTS: 40

Chromosomal Disease

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Disease

MalaCards integrated aliases for Chromosomal Disease:

Name: Chromosomal Disease 12 15
Congenital Chromosomal Disease 73
Chromosomal Disorders 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0080014
ICD10 33 Q99.9
UMLS 73 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 autism. 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 Decreased viability and Decreased viability

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

GenomeRNAi Phenotypes related to Chromosomal Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-4 10.07 DYRK1A
2 Decreased viability GR00240-S-1 10.07 GATA1
3 Decreased viability GR00342-S-3 10.07 DYRK1A
4 Decreased viability GR00381-A-1 10.07 UROD CORO7 DSCAM
5 Decreased viability GR00402-S-2 10.07 AFP APP BACE1 CORO7 DSCAM DYRK1A
6 no effect GR00402-S-1 9.62 RCAN1 SNRPN UBE3A UROD AFP APP

MGI Mouse Phenotypes related to Chromosomal Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 AFP APP BACE1 DSCAM DYRK1A GABRB3
2 growth/size/body region MP:0005378 10.25 APP BACE1 DSCAM DYRK1A GABRB3 GATA1
3 cellular MP:0005384 10.21 SNRPN UBE3A APP BACE1 DSCAM DYRK1A
4 mortality/aging MP:0010768 10.2 BACE1 DSCAM DYRK1A GABRB3 GATA1 GTF2I
5 homeostasis/metabolism MP:0005376 10.18 AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
6 nervous system MP:0003631 10 GTF2I GTF2IRD1 MAGEL2 NDN RAI1 UBE3A
7 no phenotypic analysis MP:0003012 9.76 APP BACE1 DSCAM GABRB3 GTF2I GTF2IRD1
8 normal MP:0002873 9.65 GABRB3 GATA1 GTF2I NDN PAPPA RAI1
9 reproductive system MP:0005389 9.32 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 489)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 16129715 25074887
2
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
3
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
4
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
6
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
7
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
8
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
9
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
10 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 979-32-8
11
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
12
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
13
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
14
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
15
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-23-7 5754
16
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0 6013
17
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
18
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
19
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
20
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
21
Dalteparin Approved Phase 4 9005-49-6
22
Enoxaparin Approved Phase 4 9005-49-6 772
23
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
24
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
25
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 65271-80-9 4212
26
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
27
Celiprolol Approved, Investigational Phase 4 56980-93-9
28
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-18-4 6010
29
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 315-37-7 9416
30
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 5949-44-0
31
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
32
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
33
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
34
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
36
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 143 6006
37 Deslorelin Investigational, Vet_approved Phase 4,Phase 3 57773-65-6
38
Lactitol Investigational Phase 4 585-86-4 3871
39
Butyric Acid Experimental, Investigational Phase 4,Phase 3,Phase 2 107-92-6 264
40 Fertility Agents Phase 4,Phase 3,Not Applicable
41 Follicle Stimulating Hormone Phase 4,Not Applicable
42 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Progestins Phase 4,Phase 3
46 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48
asparaginase Phase 4,Phase 3,Phase 2,Phase 1
49 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1
50 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3

Interventional clinical trials:

(show top 50) (show all 853)
# 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 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
16 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
17 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
18 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
19 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
20 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4 Nilotinib
21 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
22 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
23 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
24 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
25 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4 Lovastatin
26 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
27 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
28 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
29 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
30 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
31 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
32 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
33 Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age Suspended NCT00646893 Phase 4
34 Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib Terminated NCT00461929 Phase 4
35 LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) Terminated NCT01198054 Phase 4 Lenalidomide
36 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
37 Impact of Parental Support on Pregnancy Outcomes (IPSO) Trial- Day 3 Preimplantation Genetic Screening (PGS) With Day 5 Fresh Transfer Terminated NCT01194531 Phase 4
38 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
39 Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
40 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
41 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)
42 Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS Unknown status NCT02231008 Phase 2, Phase 3 tasimelteon
43 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion Unknown status NCT00966810 Phase 2, Phase 3
44 Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome Unknown status NCT02804373 Phase 2, Phase 3 Oxytocin continuous;Placebo;Placebo continuous;Oxytocin
45 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
46 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
47 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
48 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
49 Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality Completed NCT00179621 Phase 3 Lenalidomide 5 mg;Lenalidomide 10 mg;Placebo
50 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin

Search NIH Clinical Center for Chromosomal Disease

Genetic Tests for Chromosomal Disease

Anatomical Context for Chromosomal Disease

MalaCards organs/tissues related to Chromosomal Disease:

41
Myeloid, Testes, Brain, Bone, Thymus, T Cells, B Cells

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

# Title Authors Year
1
Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism? ( 24078047 )
2013
2
The ultrasound markers of chromosomal disease: a retrospective study. ( 8319061 )
1993
3
Quantitative histology of human fetal testes in chromosomal disease. ( 2937030 )
1985
4
Risk of chromosomal disease due to radiation. Tentative estimate from the study of radiation-induced translocations in human fibroblasts. ( 6828069 )
1983
5
Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man. ( 7266558 )
1981
6
Chromosomal disease and strabismus. ( 900613 )
1977

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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