MCID: CHR565
MIFTS: 22

Chromosomal Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Deletion Syndrome

MalaCards integrated aliases for Chromosomal Deletion Syndrome:

Name: Chromosomal Deletion Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060388

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...

Related Diseases for Chromosomal Deletion Syndrome

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



Diseases related to Chromosomal Deletion Syndrome

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

Drugs & Therapeutics for Chromosomal Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosomal Deletion Syndrome

Genetic Tests for Chromosomal Deletion Syndrome

Anatomical Context for Chromosomal Deletion Syndrome

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 )
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 )
1973
4
The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome. ( 5129531 )
1971

Variations for Chromosomal Deletion Syndrome

Expression for Chromosomal Deletion Syndrome

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

Pathways for Chromosomal Deletion Syndrome

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

Sources for Chromosomal Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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