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 52


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 hypotonia-speech impairment-severe cognitive delay syndrome and louse-borne relapsing fever. 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

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 28)
id Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 10.7 SNRPN UBE3A
2 louse-borne relapsing fever 10.7 AFP BACE1
3 trisomy 2 mosaicism 10.7 AFP PAPPA
4 mosaic variegated aneuploidy syndrome 1 10.6
5 autoimmune enteropathy type 2 10.6 MAGEL2 NDN SNRPN
6 familial long qt syndrome 10.6 MAGEL2 NDN SNRPN
7 glycogen storage disease due to glucose-6-phosphatase deficiency 10.6 MAGEL2 NDN SNRPN
8 antenatal multiminicore disease with arthrogryposis multiplex congenita 10.6 MAGEL2 NDN SNRPN
9 mohr syndrome 10.5 AFP PAPPA
10 active cochlear meniere's disease 10.5 APP GABRB3
11 migraine, with or without aura 13 10.5 GATA1 UROD
12 chromosome 15q24 deletion syndrome 10.4 GTF2I GTF2IRD1 PTER RAI1
13 autoimmune-related retinopathy and optic neuropathy 10.4 GABRB3 NDN SNRPN UBE3A
14 emanuel syndrome 10.4
15 diploid-triploid mosaicism 10.4
16 tetrasomy x 10.4
17 trisomy 22 10.4
18 hypotrichosis of eyelid 10.3 AFP UROD
19 roifman-chitayat syndrome 10.3 GABRB3 MAGEL2 NDN SNRPN UBE3A
20 down syndrome 10.3
21 velocardiofacial syndrome 10.3
22 2q37 deletion syndrome 10.3
23 sexual disorder 10.2 GABRB3 MAGEL2 NDN SNRPN UBE3A
24 angelman syndrome 10.2 GABRB3 MAGEL2 MKRN3 NDN SNRPN UBE3A
25 holoprosencephaly 1 10.2 AFP APP BACE1 DYRK1A GATA1 PAPPA
26 phelan-mcdermid syndrome 9.3
27 strabismus 9.3
28 dysbaric osteonecrosis 7.9 AFP APP BACE1 CORO7 DYRK1A ENSG00000202498

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:

id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 UBE3A AFP APP BACE1 DYRK1A GABRB3
2 growth/size/body region MP:0005378 10.22 APP BACE1 DYRK1A GABRB3 GATA1 GTF2I
3 homeostasis/metabolism MP:0005376 10.18 AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
4 cellular MP:0005384 10.17 APP BACE1 DYRK1A GATA1 GTF2I GTF2IRD1
5 mortality/aging MP:0010768 10.17 GABRB3 GATA1 GTF2I GTF2IRD1 MAGEL2 NDN
6 nervous system MP:0003631 9.96 MAGEL2 NDN RAI1 UBE3A APP BACE1
7 no phenotypic analysis MP:0003012 9.7 APP BACE1 GABRB3 GTF2I GTF2IRD1 NDN
8 normal MP:0002873 9.65 APP BACE1 GABRB3 GATA1 GTF2I NDN
9 reproductive system MP:0005389 9.28 MAGEL2 RCAN1 SNRPN UBE3A AFP APP

Drugs & Therapeutics for Chromosomal Disease

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

(show top 50) (show all 453)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Cetrorelix Approved, Investigational Phase 4,Phase 3 120287-85-6 16129715 25074887
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994
Asparaginase Approved 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
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 5754 657311
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
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
Dalteparin Approved Phase 4 9005-49-6
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
Celiprolol Approved, Investigational Phase 4 56980-93-9
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
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
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 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 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
49 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
50 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 759)

id 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 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
11 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
12 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
13 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
14 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
15 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
16 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
17 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
18 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
19 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
20 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
21 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 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 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
24 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
25 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
26 Linkage Consortium for End-Stage Renal Disease Completed NCT00301249 Phase 4
27 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4 Lovastatin
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 Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
41 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
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 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
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 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
48 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Unknown status NCT02204163 Phase 3 Eutropin;Genotropin
49 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;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, B Cells, T Cells

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

id 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:

id Super pathways Score Top Affiliating Genes
2 10.37 APP BACE1

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 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
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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