MCID: CHR084
MIFTS: 34

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 patau syndrome and prader-willi syndrome. 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 testes, and related phenotypes are Decreased viability and Decreased viability

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 top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 patau syndrome 30.9 AFP UROD
2 prader-willi syndrome 30.8 GABRB3 MAGEL2 MKRN3 NDN UBE3A
3 down syndrome 30.6 AFP APP BACE1 DSCAM DYRK1A GATA1
4 angelman syndrome 29.4 GABRB3 MAGEL2 NDN UBE3A UROD
5 mosaic variegated aneuploidy syndrome 1 10.8
6 48, xxxx 10.8
7 jacobsen syndrome 10.6
8 emanuel syndrome 10.6
9 diploid-triploid mosaicism 10.6
10 tetrasomy x 10.6
11 trisomy 22 10.6
12 velocardiofacial syndrome 10.5
13 2q37 deletion syndrome 10.5
14 cri-du-chat syndrome 10.5
15 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.5
16 chromosome 18p deletion syndrome 10.5
17 chromosome 9p deletion syndrome 10.5
18 chromosome 1p36 deletion syndrome 10.5
19 chromosome 3q29 deletion syndrome 10.5
20 chromosome 16p13.3 deletion syndrome, proximal 10.5
21 chromosome 13q14 deletion syndrome 10.5
22 ring chromosome 14 syndrome 10.5
23 selective igm deficiency disease 10.5
24 oligomeganephronia 10.5
25 turner syndrome 10.5
26 mbd5 haploinsufficiency 10.5
27 15q13.3 microduplication syndrome 10.5
28 16q24.3 microdeletion syndrome 10.5
29 chromosome 10p deletion 10.5
30 chromosome 10p duplication 10.5
31 chromosome 10q duplication 10.5
32 chromosome 13q duplication 10.5
33 chromosome 14q deletion 10.5
34 chromosome 16q deletion 10.5
35 chromosome 17q deletion 10.5
36 chromosome 18p tetrasomy 10.5
37 chromosome 19p deletion 10.5
38 chromosome 20p deletion 10.5
39 chromosome 22q duplication 10.5
40 chromosome 9p duplication 10.5
41 chromosome 9q deletion 10.5
42 chromosome 9q duplication 10.5
43 distal chromosome 18q deletion syndrome 10.5
44 mosaic trisomy 14 10.5
45 mosaic trisomy 22 10.5
46 proximal chromosome 18q deletion syndrome 10.5
47 tetrasomy 9p 10.5
48 tracheoesophageal fistula 10.5
49 trisomy 2 mosaicism 10.5
50 distal trisomy 10q 10.5

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 10.09 DYRK1A
2 Decreased viability GR00240-S-1 10.09 GATA1
3 Decreased viability GR00342-S-3 10.09 DYRK1A
4 Decreased viability GR00381-A-1 10.09 CORO7 DSCAM TBX1 UROD
5 Decreased viability GR00402-S-2 10.09 AFP APP BACE1 CORO7 DSCAM DYRK1A
6 no effect GR00402-S-1 9.62 AFP APP BACE1 CORO7 DSCAM DYRK1A

MGI Mouse Phenotypes related to Chromosomal Disease:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 AFP APP BACE1 DSCAM DYRK1A GABRB3
2 growth/size/body region MP:0005378 10.32 APP BACE1 DSCAM DYRK1A GABRB3 GATA1
3 mortality/aging MP:0010768 10.31 AFP APP BACE1 DSCAM DYRK1A GABRB3
4 cellular MP:0005384 10.3 APP BACE1 DSCAM DYRK1A GATA1 GTF2I
5 homeostasis/metabolism MP:0005376 10.27 AFP APP BACE1 GATA1 GTF2IRD1 MAGEL2
6 nervous system MP:0003631 10.15 APP BACE1 DSCAM DYRK1A GABRB3 GTF2I
7 endocrine/exocrine gland MP:0005379 10.1 AFP DYRK1A GTF2I MAGEL2 RAI1 RCAN1
8 craniofacial MP:0005382 9.99 DSCAM GABRB3 GTF2I GTF2IRD1 RAI1 TBX1
9 normal MP:0002873 9.96 APP BACE1 GABRB3 GATA1 GTF2I NDN
10 muscle MP:0005369 9.95 APP BACE1 DSCAM GTF2IRD1 MAGEL2 NDN
11 no phenotypic analysis MP:0003012 9.92 APP BACE1 DSCAM GABRB3 GTF2I GTF2IRD1
12 reproductive system MP:0005389 9.81 AFP APP DSCAM DYRK1A GABRB3 GTF2I
13 respiratory system MP:0005388 9.5 DSCAM GATA1 GTF2IRD1 MAGEL2 NDN RAI1
14 skeleton MP:0005390 9.23 DSCAM GABRB3 GATA1 GTF2IRD1 MAGEL2 PAPPA

Drugs & Therapeutics for Chromosomal Disease

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

(show top 50) (show all 524)
# 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,Not Applicable 57-83-0 5994
3
Dasatinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 302962-49-8 3062316
4
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-22-7, 2068-78-2 5978
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1177-87-3
6
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
8
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 59-05-2, 1959-05-2 126941
9
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
10
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-81-3 30323
11
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
12 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 979-32-8
13
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
14
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 6006 143
15
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
16
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
17
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 6055-19-2, 50-18-0 2907
18
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-03-3
19
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-23-7 5754
20
Lenalidomide Approved Phase 4,Phase 3,Phase 2,Phase 1 191732-72-6 216326
21
Ganirelix Approved Phase 4,Phase 3 123246-29-7, 124904-93-4 25081094
22
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
23
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
24
Enoxaparin Approved Phase 4 9005-49-6 772
25
Dalteparin Approved Phase 4 9005-49-6
26
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
27
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
28
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
29
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 65271-80-9 4212
30
Celiprolol Approved, Investigational Phase 4 56980-93-9
31
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0 6013
32
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 315-37-7 9416
33
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-18-4 6010
34
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 5949-44-0
35
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
36
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
37
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
39 Deslorelin Investigational, Vet_approved Phase 4,Phase 3 57773-65-6
40
Lactitol Investigational Phase 4 585-86-4 3871
41 Progestins Phase 4,Phase 3
42 Follicle Stimulating Hormone Phase 4,Not Applicable
43 Hormone Antagonists 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 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Fertility Agents Phase 4,Phase 3,Not Applicable
47
asparaginase Phase 4,Phase 3,Phase 2,Phase 1
48 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1
50 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 925)
# 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 Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Unknown status NCT02389920 Phase 4 Nilotinib
3 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4 Idarubicin(IDA)
4 Compliance: Role Emerges for Success in Chronic Myelogenous Leukaemia (CML): Evaluation aND Optimisation Unknown status NCT01243489 Phase 4
5 Embryo Aneuploidies and Ovarian Stimulation Completed NCT00707525 Phase 4
6 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
7 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4 LMWH+Folic acid;Folic Acid
8 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
9 Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase Completed NCT01061177 Phase 4 Nilotinib
10 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
11 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
12 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
13 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
14 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
15 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 r-hGH
16 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
17 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
18 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
19 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
20 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
21 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
22 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
23 Study to Evaluate Nilotinib in Chronic Myelogenous Leukemia (CML) Patients With SubOptimal Response Completed NCT01043874 Phase 4 Nilotinib
24 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
25 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
26 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
27 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
28 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
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 GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition Active, not recruiting NCT03616509 Phase 4 Growth hormone;Placebo
33 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
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 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
40 Study of Nilotinib in Ph+ CML-CP Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
41 Multi Centre Trial of DSMM for Newly Diagnosed Multiple Myeloma up to 60 Years Unknown status NCT00546988 Phase 3
42 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)
43 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
44 Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS Unknown status NCT02231008 Phase 2, Phase 3 tasimelteon
45 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion Unknown status NCT00966810 Phase 2, Phase 3
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:

41
Testes

Publications for Chromosomal Disease

Articles related to Chromosomal Disease:

# Title Authors Year
1
The ultrasound markers of chromosomal disease: a retrospective study. ( 8319061 )
1993
2
Quantitative histology of human fetal testes in chromosomal disease. ( 2937030 )
1985
3
Risk of chromosomal disease due to radiation. Tentative estimate from the study of radiation-induced translocations in human fibroblasts. ( 6828069 )
1983
4
Tentative estimate of the risk of chromosomal disease due to radiation-induced translocations in man. ( 7266558 )
1981
5
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 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 APP GATA1 NDN RAI1 TBX1 UBE3A
2 cellular response to copper ion GO:0071280 9.37 APP BACE1
3 rhythmic process GO:0048511 9.33 MAGEL2 RAI1 UBE3A
4 response to lead ion GO:0010288 9.26 APP BACE1
5 cellular response to manganese ion GO:0071287 8.96 APP BACE1
6 cellular protein metabolic process GO:0044267 8.92 AFP APP BACE1 PAPPA

Molecular functions related to Chromosomal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.1 GATA1 GTF2I GTF2IRD1 RAI1 RCAN1 TBX1

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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