MCID: CHR490
MIFTS: 13

Chromosome 10q23 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 10q23 Deletion Syndrome

MalaCards integrated aliases for Chromosome 10q23 Deletion Syndrome:

Name: Chromosome 10q23 Deletion Syndrome 12 13 42 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060389
MeSH 42 C567385

Summaries for Chromosome 10q23 Deletion Syndrome

MalaCards based summary : Chromosome 10q23 Deletion Syndrome is related to bannayan-riley-ruvalcaba syndrome and ruvalcaba syndrome. An important gene associated with Chromosome 10q23 Deletion Syndrome is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways is Integrated Breast Cancer Pathway. Related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation

Related Diseases for Chromosome 10q23 Deletion Syndrome

Diseases related to Chromosome 10q23 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 9.9
2 ruvalcaba syndrome 9.9
3 chromosome 16p12.1 deletion syndrome, 520kb 9.6 BMPR1A PTEN
4 cowden syndrome 4 9.6 BMPR1A PTEN
5 polysyndactyly with cardiac malformation 9.5 BMPR1A PTEN
6 viral encephalitis 9.5 BMPR1A PTEN
7 glioma susceptibility 2 9.4 BMPR1A PTEN
8 glomerulosclerosis, focal segmental, 7 9.2 BMPR1A PTEN

Graphical network of the top 20 diseases related to Chromosome 10q23 Deletion Syndrome:



Diseases related to Chromosome 10q23 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 10q23 Deletion Syndrome

GenomeRNAi Phenotypes related to Chromosome 10q23 Deletion Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.5 PTEN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 PTEN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.5 PTEN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.5 BMPR1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.5 PTEN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.5 BMPR1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 BMPR1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 BMPR1A PTEN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 PTEN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 PTEN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.5 BMPR1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 BMPR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 BMPR1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 PTEN
15 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.16 BMPR1A PTEN
16 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.96 BMPR1A PTEN

MGI Mouse Phenotypes related to Chromosome 10q23 Deletion Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 BMPR1A PTEN

Drugs & Therapeutics for Chromosome 10q23 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 10q23 Deletion Syndrome

Cochrane evidence based reviews: chromosome 10q23 deletion syndrome

Genetic Tests for Chromosome 10q23 Deletion Syndrome

Anatomical Context for Chromosome 10q23 Deletion Syndrome

Publications for Chromosome 10q23 Deletion Syndrome

Articles related to Chromosome 10q23 Deletion Syndrome:

id Title Authors Year
1
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016

Variations for Chromosome 10q23 Deletion Syndrome

Expression for Chromosome 10q23 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 10q23 Deletion Syndrome.

Pathways for Chromosome 10q23 Deletion Syndrome

Pathways related to Chromosome 10q23 Deletion Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.81 BMPR1A PTEN

GO Terms for Chromosome 10q23 Deletion Syndrome

Biological processes related to Chromosome 10q23 Deletion Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.96 BMPR1A PTEN
2 heart development GO:0007507 8.62 BMPR1A PTEN

Sources for Chromosome 10q23 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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