MCID: CHR565
MIFTS: 25

Chromosomal Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Chromosomal Deletion Syndrome

MalaCards integrated aliases for Chromosomal Deletion Syndrome:

Name: Chromosomal Deletion Syndrome 11 14 75

Classifications:



External Ids:

Disease Ontology 11 DOID:0060388

Summaries for Chromosomal Deletion Syndrome

Disease Ontology: 11 A chromosomal disease that has material basis in partial deletion of chromosomes.

MalaCards based summary: Chromosomal Deletion Syndrome is related to chromosome 22q11.2 deletion syndrome, distal and wolf-hirschhorn syndrome. An important gene associated with Chromosomal Deletion Syndrome is DGCR5 (DiGeorge Syndrome Critical Region Gene 5), and among its related pathways/superpathways is Cell differentiation - expanded index. Affiliated tissues include heart.

Wikipedia: 75 Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location,... more...

Related Diseases for Chromosomal Deletion Syndrome

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome X and Y Chromosomal Anomaly
Rare Chromosomal Anomaly

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

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 chromosome 22q11.2 deletion syndrome, distal 32.4 TBX1 PRODH MIR185 DGCR5
2 wolf-hirschhorn syndrome 32.4 PAGR1 H2AC18 DGCR5
3 chromosome 18p deletion syndrome 11.1
4 jacobsen syndrome 11.1
5 chromosome 5q deletion syndrome 11.1
6 chromosome 9p deletion syndrome 11.1
7 smith-magenis syndrome 11.1
8 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.1
9 thrombocytopenia-absent radius syndrome 11.1
10 chromosome xp21 deletion syndrome 11.1
11 chromosome 2q37 deletion syndrome 11.1
12 chromosome 18q deletion syndrome 11.1
13 phelan-mcdermid syndrome 11.1
14 chromosome 3q29 deletion syndrome 11.1
15 chromosome 10q26 deletion syndrome 11.1
16 chromosome 15q13.3 deletion syndrome 11.1
17 chromosome 2q31.2 deletion syndrome 11.1
18 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.1
19 chromosome 2p16.1-p15 deletion syndrome 11.1
20 chromosome 1q41-q42 deletion syndrome 11.1
21 chromosome 6pter-p24 deletion syndrome 11.1
22 chromosome 15q26-qter deletion syndrome 11.1
23 chromosome 6q24-q25 deletion syndrome 11.1
24 chromosome 17q23.1-q23.2 deletion syndrome 11.1
25 chromosome 14q11-q22 deletion syndrome 11.1
26 chromosome 4q21 deletion syndrome 11.1
27 chromosome 6q11-q14 deletion syndrome 11.1
28 chromosome 2p12-p11.2 deletion syndrome 11.1
29 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb 11.1
30 chromosome 19p13.13 deletion syndrome 11.1
31 chromosome 17p13.1 deletion syndrome 11.1
32 chromosome 3pter-p25 deletion syndrome 11.1
33 chromosome 13q14 deletion syndrome 11.1
34 chromosome 8q21.11 deletion syndrome 11.1
35 chromosome 15q25 deletion syndrome 11.1
36 chromosome 17q12 deletion syndrome 11.1
37 chromosome 16q22 deletion syndrome 11.1
38 chromosome 3q13.31 deletion syndrome 11.1
39 chromosome 15q11.2 deletion syndrome 11.1
40 chromosome 5q12 deletion syndrome 11.1
41 chromosome 10q23 deletion syndrome 11.1
42 chromosome 15q24 deletion syndrome 11.1
43 chromosome 16p11.2 deletion syndrome 11.1
44 chromosome 16p12.1 deletion syndrome 11.1
45 chromosome 17q11.2 deletion syndrome 11.1
46 chromosome 19q13.11 deletion syndrome 11.1
47 chromosome 1p36 deletion syndrome 11.1
48 hypoparathyroidism-deafness-renal disease syndrome 11.1
49 chromosome 4p deletion 11.1
50 chromosome 22q11.2 duplication syndrome 10.5 TBX1 PRODH DGCR5

Graphical network of the top 20 diseases related to Chromosomal Deletion Syndrome:



Diseases related to Chromosomal Deletion Syndrome

Symptoms & Phenotypes for Chromosomal Deletion Syndrome

Drugs & Therapeutics for Chromosomal Deletion Syndrome

Search Clinical Trials, NIH Clinical Center for Chromosomal Deletion Syndrome

Genetic Tests for Chromosomal Deletion Syndrome

Anatomical Context for Chromosomal Deletion Syndrome

Organs/tissues related to Chromosomal Deletion Syndrome:

MalaCards : Heart

Publications for Chromosomal Deletion Syndrome

Articles related to Chromosomal Deletion Syndrome:

(show all 25)
# Title Authors PMID Year
1
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. 62
35587511 2022
2
Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome. 62
33517598 2021
3
Mosmo Is Required for Zebrafish Craniofacial Formation. 62
34746155 2021
4
Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH. 62
30147883 2018
5
Cri du chat syndrome: a series of five cases. 62
23455788 2012
6
Immunological aspects of 22q11.2 deletion syndrome. 62
21984609 2012
7
Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. 62
21873545 2011
8
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. 62
20569021 2010
9
Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. 62
20138207 2010
10
Is there an increased familial prevalence of psychopathology in children with nonverbal learning disorders? 62
18434288 2008
11
Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. 62
18564501 2008
12
Neuromotor deficits in children with the 22q11 deletion syndrome. 62
16991148 2006
13
FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. 62
16463032 2006
14
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. 62
15703190 2005
15
Further delineation of the 22q13 deletion syndrome. 62
15770125 2005
16
Networks of attention in children with the 22q11 deletion syndrome. 62
15456687 2004
17
Ethical challenges in infant heart transplantation: a clinical case presentation. 62
10889700 1999
18
[Identification of the breakpoint-flanking markers on chromosomes 1 and 17 of a constitutional translocation T(1;17)(P36;Q12-21) in a patient with neuroblastoma]. 62
8571670 1995
19
A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. 62
7896290 1994
20
A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. 62
7937265 1994
21
Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). 62
2787011 1989
22
Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. 62
6982666 1982
23
A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution. 62
1261067 1976
24
Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). 62
4736145 1973
25
The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. 62
5129531 1971

Variations for Chromosomal Deletion Syndrome

Expression for Chromosomal Deletion Syndrome

Search GEO for disease gene expression data for Chromosomal Deletion Syndrome.

Pathways for Chromosomal Deletion Syndrome

Pathways related to Chromosomal Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.7 MIR9-1 MIR223 MIR17

GO Terms for Chromosomal Deletion Syndrome

Cellular components related to Chromosomal Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.47 MIR9-1 MIR24-1 MIR223 MIR22 MIR200B MIR185
2 extracellular vesicle GO:1903561 9.26 MIR24-1 MIR22 MIR185 MIR17

Biological processes related to Chromosomal Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 9.93 MIR9-1 MIR24-1 MIR223 MIR22 MIR200B MIR185
2 negative regulation of angiogenesis GO:0016525 9.65 MIR24-1 MIR200B MIR185 GTF2I
3 negative regulation of xenobiotic detoxification by transmembrane export across the plasma membrane GO:1905700 9.32 MIR9-1 MIR185
4 negative regulation of transporter activity GO:0032410 9.13 MIR9-1 MIR185 MIR17
5 miRNA-mediated gene silencing by inhibition of translation GO:0035278 8.92 MIR9-1 MIR24-1 MIR200B MIR17

Molecular functions related to Chromosomal Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.43 MIR9-1 MIR24-1 MIR223 MIR200B MIR185 MIR17
2 mRNA base-pairing translational repressor activity GO:1903231 9.17 MIR9-1 MIR24-1 MIR223 MIR22 MIR200B MIR185

Sources for Chromosomal Deletion Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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