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 ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060388

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Summaries for Chromosomal Deletion Syndrome

MalaCards based summary : Chromosomal Deletion Syndrome is related to wolf-hirschhorn syndrome and otodental dysplasia. An important gene associated with Chromosomal Deletion Syndrome is GTF2I (General Transcription Factor IIi). Related phenotypes are Increased Nanog expression and Increased Nanog expression

Wikipedia : ⁷⁶ 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

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	wolf-hirschhorn syndrome	31.9	LETM1 NELFA NSD2
2	otodental dysplasia	10.9
3	chromosome 5q deletion syndrome	10.8
4	chromosome 9p deletion syndrome	10.8
5	smith-magenis syndrome	10.8
6	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	10.8
7	chromosome 4p deletion	10.7	LETM1 NSD2
8	esophageal atresia/tracheoesophageal fistula	10.6	NKX2-6 TBX1
9	potocki-lupski syndrome	10.5	PTER RAI1
10	supravalvular aortic stenosis	10.5	ELN GTF2I
11	aortic valve insufficiency	10.5	ELN NKX2-6
12	aortic valve disease 1	10.4	ELN GTF2IRD1 NKX2-6
13	aortic valve disease 2	10.4	ELN GTF2IRD1 NKX2-6
14	diaphragmatic eventration	10.2	NKX2-6 PTER
15	chromosome 22q11.2 duplication syndrome	10.1	CECR2 TBX1 ZNF74
16	tetralogy of fallot	9.8	HIRA NKX2-6 TBX1
17	chromosomal disease	9.6	GTF2I GTF2IRD1 LETM1 PTER RAI1 TBX1
18	williams-beuren syndrome	9.6	BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
19	neuroblastoma	9.5
20	digeorge syndrome	9.3	DGCR6 DGCR6L GSC2 HIRA TBX1 ZNF74
21	velocardiofacial syndrome	8.4	CECR2 DGCR6 DGCR6L GSC2 HIRA NKX2-6

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

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Symptoms & Phenotypes for Chromosomal Deletion Syndrome

GenomeRNAi Phenotypes related to Chromosomal Deletion Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.47	TBX1
2	Increased Nanog expression	GR00371-A-2	9.47	BAZ1B TBX1 HIRA
3	Increased Nanog expression	GR00371-A-4	9.47	BAZ1B RAI1 TBX1
4	Increased Nanog expression	GR00371-A-5	9.47	BAZ1B

MGI Mouse Phenotypes related to Chromosomal Deletion Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.81	BAZ1B CECR2 GTF2I GTF2IRD1 HIRA LETM1
2	embryo	MP:0005380	9.61	NKX2-6 TBX1 BAZ1B CECR2 GSC2 GTF2I
3	growth/size/body region	MP:0005378	9.36	BAZ1B CECR2 GTF2I GTF2IRD1 HIRA LETM1

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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

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Publications for Chromosomal Deletion Syndrome

Articles related to Chromosomal Deletion Syndrome:

#	Title	Authors	Year
1	Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. ( 24035971 )	Passariello A....Tonini G.P.	2013
2	Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. ( 17851739 )	SedivA! A....Ochs H.D.	2007
3	Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. ( 7603564 )	Jones C....Tunnacliffe A.	1995
4	A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. ( 7937265 )	Pokala P....Acs G.	1994
5	Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ( 4736145 )	Brasfield D.M....Finley W.H.	1973
6	The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ( 5129531 )	Guthrie R.D....Smith D.W.	1971

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Genes for Chromosomal Deletion Syndrome

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

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GTF2I	General Transcription Factor IIi	Protein Coding	18.58	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	RAI1	Retinoic Acid Induced 1	Protein Coding	18.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	18.31	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	TBX1	T-Box 1	Protein Coding	18.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	17.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	HIRA	Histone Cell Cycle Regulator	Protein Coding	17.59	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	17.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	ELN	Elastin	Protein Coding	17.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GTF2IRD2	GTF2I Repeat Domain Containing 2	Protein Coding	17.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	NELFA	Negative Elongation Factor Complex Member A	Protein Coding	17.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	17.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	NKX2-6	NK2 Homeobox 6	Protein Coding	17.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	DGCR6	DiGeorge Syndrome Critical Region Gene 6	Protein Coding	17.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	PTER	Phosphotriesterase Related	Protein Coding	7.72	DISEASES inferred ¹⁵
15	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	7.69	DISEASES inferred ¹⁵
16	GSC2	Goosecoid Homeobox 2	Protein Coding	7.42	DISEASES inferred ¹⁵
17	ZNF74	Zinc Finger Protein 74	Protein Coding	7.34	DISEASES inferred ¹⁵
18	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	7.23	DISEASES inferred ¹⁵
19	GTF2IRD2B	GTF2I Repeat Domain Containing 2B	Protein Coding	7.22	DISEASES inferred ¹⁵
20	CECR2	CECR2, Histone Acetyl-Lysine Reader	Protein Coding	7.17	DISEASES inferred ¹⁵
21	PRODH	Proline Dehydrogenase 1	Protein Coding	7.06	DISEASES inferred ¹⁵
22	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	6.91	DISEASES inferred ¹⁵
23	CTNND2	Catenin Delta 2	Protein Coding	6.88	DISEASES inferred ¹⁵
24	GATA3	GATA Binding Protein 3	Protein Coding	6.78	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

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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	nucleoplasm	GO:0005654	9.65	BAZ1B GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
2	nucleus	GO:0005634	9.53	BAZ1B CECR2 DGCR6 DGCR6L GSC2 GTF2I

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription, DNA-templated	GO:0006351	9.9	BAZ1B GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
2	multicellular organism development	GO:0007275	9.87	GTF2IRD1 GTF2IRD2 GTF2IRD2B NELFA NKX2-6 TBX1
3	regulation of transcription, DNA-templated	GO:0006355	9.73	BAZ1B GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
4	anatomical structure morphogenesis	GO:0009653	9.58	GSC2 HIRA NSD2
5	pharyngeal system development	GO:0060037	9.37	NKX2-6 TBX1
6	regulation of transcription by RNA polymerase II	GO:0006357	9.32	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
7	transition between slow and fast fiber	GO:0014886	9.26	GTF2I GTF2IRD1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.85	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
2	DNA binding transcription factor activity	GO:0003700	9.56	GSC2 GTF2I GTF2IRD1 HIRA NKX2-6 RAI1
3	RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	9.28	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B NKX2-6

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