MCID: CHR490
MIFTS: 14

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 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060389
MeSH 41 C567385
UMLS 69 C2677102

Summaries for Chromosome 10q23 Deletion Syndrome

MalaCards based summary : Chromosome 10q23 Deletion Syndrome is related to bannayan-riley-ruvalcaba syndrome and juvenile polyposis 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 Increased shRNA abundance (Z-score > 2)

Related Diseases for Chromosome 10q23 Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 29.3 BMPR1A PTEN
2 juvenile polyposis syndrome 29.1 BMPR1A PTEN
3 ruvalcaba syndrome 9.9
4 chromosome 10q22.3-q23.2 deletion syndrome 9.7 BMPR1A PTEN
5 polyposis, skin pigmentation, alopecia, and fingernail changes 9.6 BMPR1A PTEN
6 cowden disease 9.4 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:

25 (show all 16)
# 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:

43
# 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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