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

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060388

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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...

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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:

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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

Organs/tissues related to Chromosomal Deletion Syndrome:

MalaCards : Heart

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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	Spaan AN...Casanova JL	35587511	2022
2	Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome. ⁶²	Chhaya N...Chan T	33517598	2021
3	Mosmo Is Required for Zebrafish Craniofacial Formation. ⁶²	Camacho-Macorra C...Cardozo MJ	34746155	2021
4	Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH. ⁶²	Shariati G...Abdorasuli N	30147883	2018
5	Cri du chat syndrome: a series of five cases. ⁶²	Dangare HM...Srivastava VM	23455788	2012
6	Immunological aspects of 22q11.2 deletion syndrome. ⁶²	Gennery AR	21984609	2012
7	Coordinate loss of a microRNA and protein-coding gene cooperate in the pathogenesis of 5q- syndrome. ⁶²	Kumar MS...Ebert BL	21873545	2011
8	Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. ⁶²	Curtin J...Sharota Franzco D	20569021	2010
9	Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. ⁶²	Kramer M...Huse K	20138207	2010
10	Is there an increased familial prevalence of psychopathology in children with nonverbal learning disorders? ⁶²	Antshel KM...Khan FM	18434288	2008
11	Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics. ⁶²	Afifi HH...Kayed HF	18564501	2008
12	Neuromotor deficits in children with the 22q11 deletion syndrome. ⁶²	Sobin C...Karayiorgou M	16991148	2006
13	FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities. ⁶²	Yakut T...Egeli U	16463032	2006
14	Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. ⁶²	Stoller JZ...Epstein JA	15703190	2005
15	Further delineation of the 22q13 deletion syndrome. ⁶²	Lindquist SG...Brondum-Nielsen K	15770125	2005
16	Networks of attention in children with the 22q11 deletion syndrome. ⁶²	Sobin C...Karayiorgou M	15456687	2004
17	Ethical challenges in infant heart transplantation: a clinical case presentation. ⁶²	Johnston JK...Orr RD	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	Laureys GG	8571670	1995
19	A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. ⁶²	Goodart SA...Overhauser J	7896290	1994
20	A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. ⁶²	Pokala P...Acs G	7937265	1994
21	Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn). ⁶²	Mayer UM...Bialasiewicz AA	2787011	1989
22	Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. ⁶²	Taysi K...Rohrbaugh JR	6982666	1982
23	A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution. ⁶²	Orye E...Craen M	1261067	1976
24	Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ⁶²	Brasfield DM...Finley WH	4736145	1973
25	The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ⁶²	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 69)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	17.05	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
2	PRODH	Proline Dehydrogenase 1	Protein Coding	14.2	DISEASES inferred ¹⁴ ¹⁴
3	H2AC18	H2A Clustered Histone 18	Protein Coding	10.74	DISEASES inferred ¹⁴ ¹⁴
4	MIR200B	MicroRNA 200b	RNA Gene	8.88	DISEASES inferred ¹⁴ ¹⁴
5	MIR9-1	MicroRNA 9-1	RNA Gene	8.55	DISEASES inferred ¹⁴ ¹⁴
6	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	8.54	DISEASES inferred ¹⁴ ¹⁴
7	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.52	DISEASES inferred ¹⁴ ¹⁴
8	TBX1	T-Box Transcription Factor 1	Protein Coding	8.41	DISEASES inferred ¹⁴
9	MIR185	MicroRNA 185	RNA Gene	8.27	DISEASES inferred ¹⁴ ¹⁴
10	MIR17	MicroRNA 17	RNA Gene	8.2	DISEASES inferred ¹⁴ ¹⁴
11	MIR24-1	MicroRNA 24-1	RNA Gene	8.12	DISEASES inferred ¹⁴ ¹⁴
12	MIR223	MicroRNA 223	RNA Gene	7.9	DISEASES inferred ¹⁴ ¹⁴
13	CREBBP	CREB Binding Protein	Protein Coding	7.81	DISEASES inferred ¹⁴
14	RAI1	Retinoic Acid Induced 1	Protein Coding	7.77	DISEASES inferred ¹⁴
15	SSB	Small RNA Binding Exonuclease Protection Factor La	Protein Coding	7.73	DISEASES inferred ¹⁴
16	MIR22	MicroRNA 22	RNA Gene	7.71	DISEASES inferred ¹⁴ ¹⁴
17	TRIM21	Tripartite Motif Containing 21	Protein Coding	7.69	DISEASES inferred ¹⁴
18	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	7.67	DISEASES inferred ¹⁴ ¹⁴
19	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	7.63	DISEASES inferred ¹⁴ ¹⁴
20	GTF2I	General Transcription Factor IIi	Protein Coding	7.62	DISEASES inferred ¹⁴
21	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	7.57	DISEASES inferred ¹⁴
22	DGCR8	DGCR8 Microprocessor Complex Subunit	Protein Coding	7.57	DISEASES inferred ¹⁴
23	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	7.55	DISEASES inferred ¹⁴
24	MIRLET7D	MicroRNA Let-7d	RNA Gene	7.54	DISEASES inferred ¹⁴ ¹⁴
25	MIR21	MicroRNA 21	RNA Gene	7.49	DISEASES inferred ¹⁴ ¹⁴
26	SHANK2	SH3 And Multiple Ankyrin Repeat Domains 2	Protein Coding	7.4	DISEASES inferred ¹⁴
27	HIRA	Histone Cell Cycle Regulator	Protein Coding	7.34	DISEASES inferred ¹⁴
28	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	7.3	DISEASES inferred ¹⁴
29	COMT	Catechol-O-Methyltransferase	Protein Coding	7.2	DISEASES inferred ¹⁴
30	EP300	E1A Binding Protein P300	Protein Coding	7.17	DISEASES inferred ¹⁴
31	MIR142	MicroRNA 142	RNA Gene	7.15	DISEASES inferred ¹⁴ ¹⁴
32	MIR15B	MicroRNA 15b	RNA Gene	7.13	DISEASES inferred ¹⁴ ¹⁴
33	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	7.11	DISEASES inferred ¹⁴
34	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.06	DISEASES inferred ¹⁴
35	PREPL	Prolyl Endopeptidase Like	Protein Coding	7.02	DISEASES inferred ¹⁴
36	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	6.97	DISEASES inferred ¹⁴
37	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	6.94	DISEASES inferred ¹⁴
38	KDM4C	Lysine Demethylase 4C	Protein Coding	6.9	DISEASES inferred ¹⁴ ¹⁴
39	RO60	Ro60, Y RNA Binding Protein	Protein Coding	6.9	DISEASES inferred ¹⁴
40	ELN	Elastin	Protein Coding	6.9	DISEASES inferred ¹⁴
41	NRXN1	Neurexin 1	Protein Coding	6.88	DISEASES inferred ¹⁴
42	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	6.86	DISEASES inferred ¹⁴
43	DROSHA	Drosha Ribonuclease III	Protein Coding	6.85	DISEASES inferred ¹⁴
44	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	6.84	DISEASES inferred ¹⁴
45	PAX6	Paired Box 6	Protein Coding	6.81	DISEASES inferred ¹⁴
46	NKX2-5	NK2 Homeobox 5	Protein Coding	6.77	DISEASES inferred ¹⁴
47	GTF2IRD2	GTF2I Repeat Domain Containing 2	Protein Coding	6.75	DISEASES inferred ¹⁴
48	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	6.73	DISEASES inferred ¹⁴
49	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	6.7	DISEASES inferred ¹⁴
50	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	6.68	DISEASES inferred ¹⁴

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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	Cell differentiation - expanded index ⁷⁴ Show member pathways Cell differentiation - index ⁷⁴	10.7	MIR9-1 MIR223 MIR17

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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	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

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Sources for Chromosomal Deletion Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHR565 MIFTS: 25	Chromosomal Deletion Syndrome Categories: Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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