Chromosomal Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR565 MIFTS: 27	Chromosomal Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Chromosomal Deletion Syndrome

MalaCards integrated aliases for Chromosomal Deletion Syndrome:

Name: Chromosomal Deletion Syndrome ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060388

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Summaries for Chromosomal Deletion Syndrome

Disease Ontology : ¹² A chromosomal disease that has material basis in partial deletion of chromosomes.

MalaCards based summary : Chromosomal Deletion Syndrome is related to wolf-hirschhorn syndrome and hypoparathyroidism, sensorineural deafness, and renal disease. An important gene associated with Chromosomal Deletion Syndrome is DGCR5 (DiGeorge Syndrome Critical Region Gene 5), and among its related pathways/superpathways are MicroRNAs in cancer and DDX1 as a regulatory component of the Drosha microprocessor. Affiliated tissues include bone, skin and heart.

Wikipedia : ⁷³ Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location,... more...

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Related Diseases for Chromosomal Deletion Syndrome

Diseases in the Chromosomal Disease family:

Chromosomal Deletion Syndrome	Y Chromosomal Anomaly
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 234)

#	Related Disease	Score	Top Affiliating Genes
1	wolf-hirschhorn syndrome	11.2
2	hypoparathyroidism, sensorineural deafness, and renal disease	11.1
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 1p36 deletion syndrome	11.1
15	chromosome 3q29 deletion syndrome	11.1
16	chromosome 10q26 deletion syndrome	11.1
17	chromosome 22q11.2 deletion syndrome, distal	11.1
18	chromosome 15q13.3 deletion syndrome	11.1
19	chromosome 2q31.2 deletion syndrome	11.1
20	chromosome 1q21.1 deletion syndrome, 1.35-mb	11.1
21	chromosome 2p16.1-p15 deletion syndrome	11.1
22	chromosome 1q41-q42 deletion syndrome	11.1
23	chromosome 6pter-p24 deletion syndrome	11.1
24	chromosome 15q26-qter deletion syndrome	11.1
25	chromosome 6q24-q25 deletion syndrome	11.1
26	chromosome 17q23.1-q23.2 deletion syndrome	11.1
27	chromosome 14q11-q22 deletion syndrome	11.1
28	chromosome 4q21 deletion syndrome	11.1
29	chromosome 6q11-q14 deletion syndrome	11.1
30	chromosome 2p12-p11.2 deletion syndrome	11.1
31	chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb	11.1
32	chromosome 19p13.13 deletion syndrome	11.1
33	chromosome 17p13.1 deletion syndrome	11.1
34	chromosome 3pter-p25 deletion syndrome	11.1
35	chromosome 13q14 deletion syndrome	11.1
36	chromosome 8q21.11 deletion syndrome	11.1
37	chromosome 15q25 deletion syndrome	11.1
38	chromosome 17q12 deletion syndrome	11.1
39	chromosome 16q22 deletion syndrome	11.1
40	chromosome 3q13.31 deletion syndrome	11.1
41	chromosome 15q11.2 deletion syndrome	11.1
42	chromosome 5q12 deletion syndrome	11.1
43	chromosome 10q23 deletion syndrome	11.1
44	chromosome 15q24 deletion syndrome	11.1
45	chromosome 16p11.2 deletion syndrome	11.1
46	chromosome 16p12.1 deletion syndrome	11.1
47	chromosome 17q11.2 deletion syndrome	11.1
48	chromosome 19q13.11 deletion syndrome	11.1
49	chromosome 22q11.2 duplication syndrome	10.5	TBX1 PRODH DGCR5
50	t-cell immunodeficiency with thymic aplasia	10.5	TBX1 PRODH DGCR5

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

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Symptoms & Phenotypes for Chromosomal Deletion Syndrome

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Drugs & Therapeutics for Chromosomal Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosomal Deletion Syndrome

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Genetic Tests for Chromosomal Deletion Syndrome

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Anatomical Context for Chromosomal Deletion Syndrome

MalaCards organs/tissues related to Chromosomal Deletion Syndrome:

⁴⁰

Bone, Skin, Heart, Eye, Thymus, Lung, Myeloid

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Publications for Chromosomal Deletion Syndrome

Articles related to Chromosomal Deletion Syndrome:

(show all 23)

#	Title	Authors	PMID	Year
1	Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome. ⁶¹	Chhaya N...Chan T	33517598	2021
2	Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH. ⁶¹	Shariati G...Abdorasuli N	30147883	2018
3	Cri du chat syndrome: a series of five cases. ⁶¹	Dangare HM...Srivastava VM	23455788	2012
4	Immunological aspects of 22q11.2 deletion syndrome. ⁶¹	Gennery AR	21984609	2012
5	Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. ⁶¹	Kumar MS...Ebert BL	21873545	2011
6	Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. ⁶¹	Curtin J...Sharota Franzco D	20569021	2010
7	Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. ⁶¹	Kramer M...Huse K	20138207	2010
8	Is there an increased familial prevalence of psychopathology in children with nonverbal learning disorders? ⁶¹	Antshel KM...Khan FM	18434288	2008
9	Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. ⁶¹	Afifi HH...Kayed HF	18564501	2008
10	Neuromotor deficits in children with the 22q11 deletion syndrome. ⁶¹	Sobin C...Karayiorgou M	16991148	2006
11	FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. ⁶¹	Yakut T...Egeli U	16463032	2006
12	Further delineation of the 22q13 deletion syndrome. ⁶¹	Lindquist SG...Brondum-Nielsen K	15770125	2005
13	Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. ⁶¹	Stoller JZ...Epstein JA	15703190	2005
14	Networks of attention in children with the 22q11 deletion syndrome. ⁶¹	Sobin C...Karayiorgou M	15456687	2004
15	Ethical challenges in infant heart transplantation: a clinical case presentation. ⁶¹	Johnston JK...Orr RD	10889700	1999
16	[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]. ⁶¹	Laureys GG	8571670	1995
17	A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. ⁶¹	Goodart SA...Overhauser J	7896290	1994
18	A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. ⁶¹	Pokala P...Acs G	7937265	1994
19	Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). ⁶¹	Mayer UM...Bialasiewicz AA	2787011	1989
20	Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. ⁶¹	Taysi K...Rohrbaugh JR	6982666	1982
21	A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution. ⁶¹	Orye E...Craen M	1261067	1976
22	Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ⁶¹	Brasfield DM...Finley WH	4736145	1973
23	The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ⁶¹	Guthrie RD...Smith DW	5129531	1971

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Genes for Chromosomal Deletion Syndrome

Genes related to Chromosomal Deletion Syndrome (0 elite genes):

(show top 50) (show all 63)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	17.69	DISEASES inferred ¹⁵ ¹⁵ ¹⁵
2	PRODH	Proline Dehydrogenase 1	Protein Coding	15.37	DISEASES inferred ¹⁵ ¹⁵
3	H2AC18	H2A Clustered Histone 18	Protein Coding	11.18	DISEASES inferred ¹⁵ ¹⁵
4	MIR185	MicroRNA 185	RNA Gene	9.91	DISEASES inferred ¹⁵ ¹⁵
5	MIR9-1	MicroRNA 9-1	RNA Gene	9.2	DISEASES inferred ¹⁵ ¹⁵
6	MIR200B	MicroRNA 200b	RNA Gene	9.15	DISEASES inferred ¹⁵ ¹⁵
7	MIR17	MicroRNA 17	RNA Gene	8.86	DISEASES inferred ¹⁵ ¹⁵
8	MIR24-1	MicroRNA 24-1	RNA Gene	8.68	DISEASES inferred ¹⁵ ¹⁵
9	TBX1	T-Box Transcription Factor 1	Protein Coding	8.6	DISEASES inferred ¹⁵
10	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	8.46	DISEASES inferred ¹⁵ ¹⁵
11	MIR1306	MicroRNA 1306	RNA Gene	8.44	DISEASES inferred ¹⁵ ¹⁵
12	MIR223	MicroRNA 223	RNA Gene	8.29	DISEASES inferred ¹⁵ ¹⁵
13	CREBBP	CREB Binding Protein	Protein Coding	8.07	DISEASES inferred ¹⁵
14	MIR31	MicroRNA 31	RNA Gene	8.04	DISEASES inferred ¹⁵ ¹⁵
15	MIR19B1	MicroRNA 19b-1	RNA Gene	8.03	DISEASES inferred ¹⁵ ¹⁵
16	MIRLET7D	MicroRNA Let-7d	RNA Gene	8.02	DISEASES inferred ¹⁵ ¹⁵
17	RAI1	Retinoic Acid Induced 1	Protein Coding	7.94	DISEASES inferred ¹⁵
18	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.9	DISEASES inferred ¹⁵ ¹⁵
19	DGCR8	DGCR8 Microprocessor Complex Subunit	Protein Coding	7.85	DISEASES inferred ¹⁵
20	GTF2I	General Transcription Factor IIi	Protein Coding	7.85	DISEASES inferred ¹⁵
21	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	7.81	DISEASES inferred ¹⁵
22	MIR142	MicroRNA 142	RNA Gene	7.8	DISEASES inferred ¹⁵ ¹⁵
23	HIRA	Histone Cell Cycle Regulator	Protein Coding	7.78	DISEASES inferred ¹⁵
24	SSB	Small RNA Binding Exonuclease Protection Factor La	Protein Coding	7.78	DISEASES inferred ¹⁵
25	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	7.77	DISEASES inferred ¹⁵
26	MIR491	MicroRNA 491	RNA Gene	7.76	DISEASES inferred ¹⁵ ¹⁵
27	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	7.74	DISEASES inferred ¹⁵ ¹⁵
28	TRIM21	Tripartite Motif Containing 21	Protein Coding	7.72	DISEASES inferred ¹⁵
29	COMT	Catechol-O-Methyltransferase	Protein Coding	7.64	DISEASES inferred ¹⁵
30	MIR15B	MicroRNA 15b	RNA Gene	7.61	DISEASES inferred ¹⁵ ¹⁵
31	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	7.58	DISEASES inferred ¹⁵
32	MIR19A	MicroRNA 19a	RNA Gene	7.58	DISEASES inferred ¹⁵ ¹⁵
33	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	7.47	DISEASES inferred ¹⁵
34	EP300	E1A Binding Protein P300	Protein Coding	7.36	DISEASES inferred ¹⁵
35	MIR432	MicroRNA 432	RNA Gene	7.36	DISEASES inferred ¹⁵ ¹⁵
36	MIR183	MicroRNA 183	RNA Gene	7.28	DISEASES inferred ¹⁵ ¹⁵
37	MIR200A	MicroRNA 200a	RNA Gene	7.25	DISEASES inferred ¹⁵ ¹⁵
38	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	7.24	DISEASES inferred ¹⁵
39	PREPL	Prolyl Endopeptidase Like	Protein Coding	7.22	DISEASES inferred ¹⁵
40	MIR342	MicroRNA 342	RNA Gene	7.22	DISEASES inferred ¹⁵ ¹⁵
41	KDM4C	Lysine Demethylase 4C	Protein Coding	7.18	DISEASES inferred ¹⁵ ¹⁵
42	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.16	DISEASES inferred ¹⁵
43	GNB1L	G Protein Subunit Beta 1 Like	Protein Coding	7.14	DISEASES inferred ¹⁵
44	ELN	Elastin	Protein Coding	7.13	DISEASES inferred ¹⁵
45	NRXN1	Neurexin 1	Protein Coding	7.1	DISEASES inferred ¹⁵
46	ZDHHC8	Zinc Finger DHHC-Type Palmitoyltransferase 8	Protein Coding	7.08	DISEASES inferred ¹⁵
47	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	7.08	DISEASES inferred ¹⁵
48	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	7.06	DISEASES inferred ¹⁵
49	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	7.06	DISEASES inferred ¹⁵
50	GTF2IRD2	GTF2I Repeat Domain Containing 2	Protein Coding	7.03	DISEASES inferred ¹⁵

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Variations for Chromosomal Deletion Syndrome

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Expression for Chromosomal Deletion Syndrome

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

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Pathways for Chromosomal Deletion Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	MicroRNAs in cancer ³⁶	11.72	MIRLET7D MIR9-1 MIR31 MIR223 MIR200B MIR19B1
2	DDX1 as a regulatory component of the Drosha microprocessor ¹ Show member pathways RNA interference ¹	10.16	MIR1306 DGCR8

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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	extracellular space	GO:0005615	9.56	MIRLET7D MIR31 MIR24-1 MIR223 MIR19B1 MIR185
2	extracellular vesicle	GO:1903561	9.02	MIRLET7D MIR24-1 MIR19B1 MIR185 MIR17

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

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of gene expression	GO:0010629	9.62	MIR200B MIR19B1 MIR185 MIR17
2	negative regulation of angiogenesis	GO:0016525	9.46	MIR24-1 MIR200B MIR185 GTF2I
3	miRNA mediated inhibition of translation	GO:0035278	9.35	MIR9-1 MIR31 MIR200B MIR19B1 MIR17
4	gene silencing by miRNA	GO:0035195	9.32	MIRLET7D MIR9-1 MIR31 MIR24-1 MIR223 MIR200B
5	negative regulation of low-density lipoprotein particle clearance	GO:0010989	9.26	MIR185 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	9.35	MIR9-1 MIR31 MIR24-1 MIR200B MIR17
2	mRNA binding involved in posttranscriptional gene silencing	GO:1903231	9.23	MIR9-1 MIR31 MIR24-1 MIR223 MIR200B MIR19B1

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Sources for Chromosomal Deletion Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia