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 44 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0060389
MeSH 44 C567385
UMLS 72 C2677102

Summaries for Chromosome 10q23 Deletion Syndrome

Disease Ontology : 12 A chromosomal gene deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has material basis in recurrent deletions of chromosome 10q22.3-q23.2.

MalaCards based summary : Chromosome 10q23 Deletion Syndrome is related to juvenile polyposis 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 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)

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 juvenile polyposis syndrome 29.2 PTEN BMPR1A
2 ruvalcaba syndrome 10.1
3 juvenile polyposis of infancy 9.6 PTEN BMPR1A
4 polyposis, skin pigmentation, alopecia, and fingernail changes 9.5 PTEN BMPR1A
5 cowden syndrome 1 9.5 PTEN BMPR1A
6 large intestine cancer 9.2 PTEN BMPR1A

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.96 BMPR1A PTEN
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.62 BMPR1A PTEN

MGI Mouse Phenotypes related to Chromosome 10q23 Deletion Syndrome:

46
# 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 PMID Year
1
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. 38
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 PTEN BMPR1A

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 PTEN BMPR1A
2 heart development GO:0007507 8.62 PTEN BMPR1A

Sources for Chromosome 10q23 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....