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 TBX1 (T-Box 1). Affiliated tissues include heart, and 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 18)

#	Related Disease	Score	Top Affiliating Genes
1	wolf-hirschhorn syndrome	31.8	LETM1 NELFA NSD2
2	otodental dysplasia	11.0
3	chromosome 5q deletion syndrome	10.9
4	chromosome 9p deletion syndrome	10.9
5	smith-magenis syndrome	10.9
6	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	10.9
7	chromosome 4p deletion	10.2	LETM1 NSD2
8	chromosome 22q11.2 duplication syndrome	10.2	TBX1 ZNF74
9	esophageal atresia/tracheoesophageal fistula	10.2	NKX2-6 TBX1
10	hyperprolinemia	10.1	COMT PRODH
11	supravalvular aortic stenosis	10.1	ELN GTF2I
12	aortic valve disease 1	10.1	ELN GTF2IRD1 NKX2-6
13	aortic valve insufficiency	10.0	ELN NKX2-6
14	chromosomal disease	9.8	GTF2I GTF2IRD1 HIRA LETM1 NKX2-6 PTER
15	williams-beuren syndrome	9.8	BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
16	neuroblastoma	9.6
17	velocardiofacial syndrome	9.6	COMT DGCR6L GSC2 HIRA NKX2-6 PRODH
18	digeorge syndrome	9.6	COMT DGCR6L GSC2 HIRA NKX2-6 PRODH

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 HIRA TBX1
3	Increased Nanog expression	GR00371-A-4	9.47	BAZ1B TBX1 RAI1
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	cardiovascular system	MP:0005385	9.91	BAZ1B COMT GTF2I GTF2IRD1 HIRA LETM1
2	craniofacial	MP:0005382	9.76	BAZ1B GTF2I GTF2IRD1 HIRA LETM1 NSD2
3	embryo	MP:0005380	9.61	BAZ1B COMT GSC2 GTF2I GTF2IRD1 HIRA
4	growth/size/body region	MP:0005378	9.36	BAZ1B GTF2I GTF2IRD1 HIRA LETM1 NKX2-6

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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:

⁴¹

Heart

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Publications for Chromosomal Deletion Syndrome

Articles related to Chromosomal Deletion Syndrome:

#	Title	Authors	Year
1	Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH. ( 30147883 )	Shariati G...Abdorasuli N	2018
2	A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. ( 7937265 )		1994
3	Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ( 4736145 )	Brasfield D.M....Finley W.H.	1973
4	The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ( 5129531 )		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	TBX1	T-Box 1	Protein Coding	18.77	DISEASES inferred ¹⁵
2	GTF2I	General Transcription Factor IIi	Protein Coding	18.43	DISEASES inferred ¹⁵
3	RAI1	Retinoic Acid Induced 1	Protein Coding	18.35	DISEASES inferred ¹⁵
4	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	18.22	DISEASES inferred ¹⁵
5	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	17.88	DISEASES inferred ¹⁵
6	HIRA	Histone Cell Cycle Regulator	Protein Coding	17.76	DISEASES inferred ¹⁵
7	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	17.5	DISEASES inferred ¹⁵
8	NKX2-6	NK2 Homeobox 6	Protein Coding	17.42	DISEASES inferred ¹⁵
9	ELN	Elastin	Protein Coding	17.39	DISEASES inferred ¹⁵
10	COMT	Catechol-O-Methyltransferase	Protein Coding	17.37	DISEASES inferred ¹⁵
11	GTF2IRD2	GTF2I Repeat Domain Containing 2	Protein Coding	17.31	DISEASES inferred ¹⁵
12	PRODH	Proline Dehydrogenase 1	Protein Coding	17.3	DISEASES inferred ¹⁵
13	NELFA	Negative Elongation Factor Complex Member A	Protein Coding	17.29	DISEASES inferred ¹⁵
14	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	17.21	DISEASES inferred ¹⁵
15	PTER	Phosphotriesterase Related	Protein Coding	7.59	DISEASES inferred ¹⁵
16	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	7.55	DISEASES inferred ¹⁵
17	GSC2	Goosecoid Homeobox 2	Protein Coding	7.35	DISEASES inferred ¹⁵
18	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	7.27	DISEASES inferred ¹⁵
19	ZNF74	Zinc Finger Protein 74	Protein Coding	7.25	DISEASES inferred ¹⁵
20	GTF2IRD2B	GTF2I Repeat Domain Containing 2B	Protein Coding	7.15	DISEASES inferred ¹⁵
21	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	7.13	DISEASES inferred ¹⁵
22	DGCR8	DGCR8, Microprocessor Complex Subunit	Protein Coding	7.06	DISEASES inferred ¹⁵
23	DGCR6	DiGeorge Syndrome Critical Region Gene 6	Protein Coding	7.05	DISEASES inferred ¹⁵
24	CECR2	CECR2, Histone Acetyl-Lysine Reader	Protein Coding	7.02	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	nucleus	GO:0005634	9.47	BAZ1B DGCR6L GSC2 GTF2I GTF2IRD1 GTF2IRD2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	9.7	BAZ1B GSC2 GTF2IRD1 HIRA RAI1 TBX1
2	anatomical structure morphogenesis	GO:0009653	9.54	GSC2 HIRA NSD2
3	transcription, DNA-templated	GO:0006351	9.35	GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
4	pharyngeal system development	GO:0060037	9.32	NKX2-6 TBX1
5	regulation of transcription, DNA-templated	GO:0006355	9.32	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
6	transition between fast and slow fiber	GO:0014883	9.26	GTF2IRD2 GTF2IRD2B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity	GO:0003700	9.5	GSC2 GTF2I GTF2IRD1 HIRA NKX2-6 RAI1
2	DNA binding	GO:0003677	9.32	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA

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