MCID: CHR084
MIFTS: 32

Chromosomal Disease malady

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Disease

Aliases & Descriptions for Chromosomal Disease:

Name: Chromosomal Disease 12 14
Congenital Chromosomal Disease 69
Chromosomal Disorders 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0080014
ICD10 33 Q99.9

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 mosaic variegated aneuploidy syndrome 1 and homozygous familial hypercholesterolemia. An important gene associated with Chromosomal Disease is AFP (Alpha Fetoprotein). The drugs Dopamine and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are behavior/neurological and cellular

Related Diseases for Chromosomal Disease

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome

Diseases related to Chromosomal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 1 10.6
2 homozygous familial hypercholesterolemia 10.3 SNRPN UBE3A
3 velocardiofacial syndrome 10.3
4 down syndrome 10.3
5 2q37 deletion syndrome 10.3
6 chromosome 11q duplication 10.3 AFP DYRK1A
7 trypanosomiasis, human east-african 10.3 AFP PAPPA
8 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 10.2 MAGEL2 NDN SNRPN
9 intellectual disability-cataracts-kyphosis syndrome 10.2 MAGEL2 NDN SNRPN
10 immunoglobulin a vasculitis 10.2 MAGEL2 NDN SNRPN
11 prune belly syndome 10.2 GATA1 PTER
12 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 10.2 MAGEL2 NDN SNRPN
13 chromosome 16p11.2 deletion syndrome, 220kb 10.2 GTF2I GTF2IRD1 LETM1 PTER
14 bartter disease 10.1 GABRB3 SNRPN UBE3A
15 spastic paraplegia 6, autosomal dominant 10.1 GABRB3 MAGEL2 NDN SNRPN UBE3A
16 macular degeneration, age-related, 7 10.1 GATA1 UROD
17 paraphilia disorder 10.1 GABRB3 MAGEL2 NDN SNRPN UBE3A
18 retinal dystrophy in systemic or cerebroretinal lipidoses 10.0 AFP DSCAM DYRK1A ETS2 GATA1 PAPPA
19 roifman-chitayat syndrome 10.0 GABRB3 IPW MAGEL2 MKRN3 NDN SNRPN
20 phelan-mcdermid syndrome 9.3
21 strabismus 9.3
22 shwachman-diamond type metaphyseal dysplasia 9.1 AFP DSCAM DYRK1A ENSG00000202498 ETS2 GABRB3

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AFP DSCAM DYRK1A GABRB3 GTF2I GTF2IRD1
2 cellular MP:0005384 10.18 DYRK1A ETS2 GATA1 GTF2I GTF2IRD1 LETM1
3 growth/size/body region MP:0005378 10.18 SNRPN UBE3A DSCAM DYRK1A ETS2 GABRB3
4 homeostasis/metabolism MP:0005376 10.1 SNRPN UBE3A UROD AFP ETS2 GATA1
5 mortality/aging MP:0010768 10.1 AFP DSCAM DYRK1A ETS2 GABRB3 GATA1
6 no phenotypic analysis MP:0003012 9.7 DSCAM ETS2 GABRB3 GTF2I GTF2IRD1 NDN
7 normal MP:0002873 9.56 ETS2 GABRB3 GATA1 GTF2I NDN PAPPA
8 reproductive system MP:0005389 9.28 AFP DSCAM DYRK1A GABRB3 GTF2I MAGEL2

Drugs & Therapeutics for Chromosomal Disease

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

(show top 50) (show all 554)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
3
Doxorubicin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23214-92-8 31703
4
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
5
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
6
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
7
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
8
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
9
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
10
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
11
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
12
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
13
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
14
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-23-7 5754 657311
15
Bortezomib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 179324-69-7 387447 93860
16
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 16129715 25074887
17
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
18
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
19
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
20
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
21
Asparaginase Approved Phase 4,Phase 3,Phase 2,Phase 1 9015-68-3
22
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
23
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 65271-80-9 4212
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
25
Celiprolol Approved, Investigational Phase 4 56980-93-9
26
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
27
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
28
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
29
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
30
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
31
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
32
Dalteparin Approved Phase 4 9041-08-1
33
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
34
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
35
Liraglutide Approved Phase 4,Phase 3 204656-20-2
36
Teniposide Approved Phase 4 29767-20-2 34698
37
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
39
Pirarubicin Investigational Phase 4 72496-41-4
40
Butyric Acid Experimental Phase 4,Phase 3,Phase 2 107-92-6 264
41
Doxil Approved June 1999 Phase 4,Phase 3,Phase 2,Phase 1 31703
42 Progestins Phase 4,Phase 3
43 Deslorelin Phase 4,Phase 3
44 Testosterone undecanoate Phase 4,Phase 3,Phase 2,Phase 1
45 Dexamethasone acetate Phase 4,Phase 2,Phase 3,Phase 1 1177-87-3
46 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1 123596
47 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1
48 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1
49
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1
50 Folic Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1114)
id Name Status NCT ID Phase
1 Assessment of Implantation Potential of Embryos by Time-lapse Technology Unknown status NCT01760278 Phase 4
2 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4
3 Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation Unknown status NCT01243489 Phase 4
4 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
5 Treatment of Infertility by Collagen Scaffold Loaded With Autologous Bone Marrow Stem Cells Unknown status NCT02204358 Phase 4
6 Efficacy Study of PAD and TAD in Newly Diagnosed Multiple Myeloma Unknown status NCT01249690 Phase 4
7 Impact of Raltegravir on the Viral Reservoirs Unknown status NCT01249560 Phase 4
8 Embryo Aneuploidies and Ovarian Stimulation Completed NCT00707525 Phase 4
9 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
10 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4
11 Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase Completed NCT01061177 Phase 4
12 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
13 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
14 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
15 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
16 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
17 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
18 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
19 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
20 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
21 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
22 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
23 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
24 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
25 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4
26 LAL-Ph-2000: Treatment of Acute Lymphoblastic Leukemia Chromosome Philadelphia Positive Completed NCT00526305 Phase 4
27 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
28 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
29 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4
30 Linkage Consortium for End-Stage Renal Disease Completed NCT00301249 Phase 4
31 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
32 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
33 Sequential vs. Monophasic Media Impact Trial (SuMMIT) Completed NCT01917240 Phase 4
34 CMR Rate of Newly Diagnosed CML-CP Patients Treated With Nilotinib Completed NCT01227577 Phase 4
35 An Exploratory Trial to Assess the Improvement of Adverse Events in Chronic Myelogenous Leukemia Patients Treated With Imatinib When Switched to Nilotinib Treatment Completed NCT00980018 Phase 4
36 Tasigna in Glivec-resistant or Intolerant Patients in CML Completed NCT01206088 Phase 4
37 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
38 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Recruiting NCT02408445 Phase 4
39 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
40 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
41 Safety And Efficacy Study Of Bosutinib In Patients With Philadelphia Chromosome Positive Chronic Myeloid Leukemia Previously Treated With One Or More Tyrosine Kinase Inhibitors Recruiting NCT02228382 Phase 4
42 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
43 Chemotherapy and Imatinib in Young Adults With Acute Lymphoblastic Leukemia Ph (BCR-ABL) POSITIVE Recruiting NCT01491763 Phase 4
44 Study Assessing Deep Molecular Response in Adult Patients With CML in Chronic Phase Treated With Nilotinib Firstline. Recruiting NCT02546674 Phase 4
45 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Active, not recruiting NCT00853008 Phase 4
46 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
47 Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age Suspended NCT00646893 Phase 4
48 Chromosome Abnormalities in Chronic Myeloid Leukemia (CML) on Imatinib. GIST Patients on Imatinib Terminated NCT00461929 Phase 4
49 LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) Terminated NCT01198054 Phase 4
50 A Study of the Effects of a Novel Ovarian Stimulation Regimen on Embryo Aneuploidy Rates in In Vitro Fertilization (IVF) Terminated NCT00866008 Phase 4

Search NIH Clinical Center for Chromosomal Disease

Genetic Tests for Chromosomal Disease

Anatomical Context for Chromosomal Disease

MalaCards organs/tissues related to Chromosomal Disease:

39
Testes

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

id 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

GO Terms for Chromosomal Disease

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

id Name GO ID Score Top Affiliating Genes
1 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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