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

MCID: CHR565 MIFTS: 22	Chromosomal Deletion Syndrome Categories: Genetic diseases
Genes Related diseases Publications 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

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 otodental dysplasia. An important gene associated with Chromosomal Deletion Syndrome is TBX1 (T-Box 1). Related phenotypes are Increased Nanog expression and Increased Nanog expression

Wikipedia : ⁷⁷ 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 23)

#	Related Disease	Score	Top Affiliating Genes
1	wolf-hirschhorn syndrome	11.1
2	otodental dysplasia	11.1
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	phelan-mcdermid syndrome	10.9
8	chromosome 10q26 deletion syndrome	10.9
9	chromosome 15q13.3 deletion syndrome	10.9
10	chromosome 14q11-q22 deletion syndrome	10.9
11	chromosome 13q14 deletion syndrome	10.9
12	chromosome 15q25 deletion syndrome	10.9
13	chromosome 15q11.2 deletion syndrome	10.9
14	chromosome 15q24 deletion syndrome	10.9
15	chromosome 22q11.2 duplication syndrome	10.3	TBX1 ZNF74
16	chromosome 4p deletion	10.3	LETM1 NSD2
17	hyperprolinemia	10.2	COMT PRODH
18	supravalvular aortic stenosis	10.2	ELN GTF2I
19	chromosomal disease	9.9	GTF2I GTF2IRD1 HIRA LETM1 RAI1 TBX1
20	tetralogy of fallot	9.9	HIRA TBX1 UFD1
21	williams-beuren syndrome	9.7	BAZ1B ELN GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B
22	velocardiofacial syndrome	9.2	COMT DGCR6L DGCR8 GSC2 HIRA PRODH
23	digeorge syndrome	9.2	COMT DGCR6L DGCR8 GSC2 HIRA 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:

²⁷

#	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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.81	BAZ1B COMT DGCR8 GTF2I GTF2IRD1 HIRA
2	craniofacial	MP:0005382	9.56	BAZ1B GTF2I GTF2IRD1 HIRA LETM1 NSD2
3	embryo	MP:0005380	9.23	BAZ1B COMT GSC2 GTF2I GTF2IRD1 HIRA

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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	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 )	Pokala P...Acs G	1994
3	Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ( 4736145 )	Brasfield DM...Finley WH	1973
4	The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ( 5129531 )	Guthrie RD...Smith DW	1971

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Genes for Chromosomal Deletion Syndrome

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

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TBX1	T-Box 1	Protein Coding	19.51	DISEASES inferred ¹⁵
2	RAI1	Retinoic Acid Induced 1	Protein Coding	18.33	DISEASES inferred ¹⁵
3	GTF2I	General Transcription Factor IIi	Protein Coding	18.33	DISEASES inferred ¹⁵
4	GTF2IRD1	GTF2I Repeat Domain Containing 1	Protein Coding	18.09	DISEASES inferred ¹⁵
5	LETM1	Leucine Zipper And EF-Hand Containing Transmembrane Protein 1	Protein Coding	17.92	DISEASES inferred ¹⁵
6	HIRA	Histone Cell Cycle Regulator	Protein Coding	17.87	DISEASES inferred ¹⁵
7	PRODH	Proline Dehydrogenase 1	Protein Coding	17.7	DISEASES inferred ¹⁵
8	NSD2	Nuclear Receptor Binding SET Domain Protein 2	Protein Coding	17.46	DISEASES inferred ¹⁵
9	COMT	Catechol-O-Methyltransferase	Protein Coding	17.4	DISEASES inferred ¹⁵
10	SPAG9	Sperm Associated Antigen 9	Protein Coding	17.36	DISEASES inferred ¹⁵
11	ELN	Elastin	Protein Coding	17.3	DISEASES inferred ¹⁵
12	GTF2IRD2	GTF2I Repeat Domain Containing 2	Protein Coding	17.26	DISEASES inferred ¹⁵
13	BAZ1B	Bromodomain Adjacent To Zinc Finger Domain 1B	Protein Coding	17.16	DISEASES inferred ¹⁵
14	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	17	DISEASES inferred ¹⁵
15	DGCR8	DGCR8 Microprocessor Complex Subunit	Protein Coding	16.98	DISEASES inferred ¹⁵
16	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	7.48	DISEASES inferred ¹⁵
17	GSC2	Goosecoid Homeobox 2	Protein Coding	7.3	DISEASES inferred ¹⁵
18	DGCR6L	DiGeorge Syndrome Critical Region Gene 6 Like	Protein Coding	7.19	DISEASES inferred ¹⁵
19	ZNF74	Zinc Finger Protein 74	Protein Coding	7.15	DISEASES inferred ¹⁵
20	GTF2IRD2B	GTF2I Repeat Domain Containing 2B	Protein Coding	7.1	DISEASES inferred ¹⁵
21	NELFA	Negative Elongation Factor Complex Member A	Protein Coding	6.97	DISEASES inferred ¹⁵
22	METTL27	Methyltransferase Like 27	Protein Coding	6.94	DISEASES inferred ¹⁵
23	DGCR5	DiGeorge Syndrome Critical Region Gene 5	RNA Gene	6.64	DISEASES inferred ¹⁵
24	DGCR2	DiGeorge Syndrome Critical Region Gene 2	Protein Coding	6.62	DISEASES inferred ¹⁵
25	GATA3	GATA Binding Protein 3	Protein Coding	6.6	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	9.61	BAZ1B DGCR8 GTF2I GTF2IRD1 HIRA NSD2
2	nucleus	GO:0005634	9.47	BAZ1B DGCR6L DGCR8 GSC2 GTF2I GTF2IRD1

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	regulation of transcription, DNA-templated	GO:0006355	9.5	GSC2 GTF2I GTF2IRD1 HIRA NSD2 TBX1
3	anatomical structure morphogenesis	GO:0009653	9.32	GSC2 HIRA
4	transition between fast and slow fiber	GO:0014883	9.26	GTF2IRD2 GTF2IRD2B
5	transcription, DNA-templated	GO:0006351	8.32	HIRA

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	9.43	GSC2 GTF2I GTF2IRD1 HIRA RAI1 TBX1
2	DNA binding	GO:0003677	9.28	GSC2 GTF2I GTF2IRD1 GTF2IRD2 GTF2IRD2B HIRA
3	protein binding	GO:0005515	10.06	BAZ1B COMT DGCR6L DGCR8 ELN GTF2I

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Sources for Chromosomal Deletion Syndrome

¹ BioSystems

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴⁹ NCBI Bookshelf

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⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

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⁶⁹ SNOMED-CT

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⁷² TGDB

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia