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

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...

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:

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

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
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. ( 24035971 )
2013
2
Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. ( 17851739 )
2007
3
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. ( 7603564 )
1995
4
A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. ( 7937265 )
1994
5
Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r). ( 4736145 )
1973
6
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 9.65 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

Sources for Chromosomal Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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