MCID: CHR490
MIFTS: 25

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 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060389
MeSH 43 C567385
UMLS 71 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 juvenile polyposis of infancy. An important gene associated with Chromosome 10q23 Deletion Syndrome is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Hippo signaling pathway. Related phenotypes are growth/size/body region and embryo

Related Diseases for Chromosome 10q23 Deletion Syndrome

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

MGI Mouse Phenotypes related to Chromosome 10q23 Deletion Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
2 embryo MP:0005380 10.13 BMP4 BMPR1A BMPR1B MESP1 MSX1 PTEN
3 cellular MP:0005384 10.1 BMP4 BMPR1A BMPR1B MESP1 MPZ PTEN
4 craniofacial MP:0005382 10.09 BMP4 BMPR1A BMPR1B MESP1 MSX1 RDH10
5 mortality/aging MP:0010768 10.09 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
6 endocrine/exocrine gland MP:0005379 10.05 BMP4 BMPR1A BMPR1B MESP1 MSX1 PTEN
7 cardiovascular system MP:0005385 10.04 BMP4 BMPR1A MESP1 MSX1 PTEN RDH10
8 nervous system MP:0003631 10.02 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
9 limbs/digits/tail MP:0005371 10 BMP4 BMPR1A BMPR1B MSX1 PTEN RDH10
10 hearing/vestibular/ear MP:0005377 9.95 BMP4 BMPR1A MESP1 MSX1 RDH10 WDR19
11 digestive/alimentary MP:0005381 9.93 BMP4 MSX1 PTEN RDH10 WDR19
12 muscle MP:0005369 9.88 BMP4 BMPR1A MESP1 MSX1 PTEN WDR19
13 normal MP:0002873 9.87 BMP4 BMPR1A BMPR1B MESP1 MSX1 PTEN
14 reproductive system MP:0005389 9.73 BMP4 BMPR1A BMPR1B MPZ PTEN RDH10
15 respiratory system MP:0005388 9.7 BMP4 BMPR1A MESP1 MPZ MSX1 PTEN
16 skeleton MP:0005390 9.61 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
17 vision/eye MP:0005391 9.17 BMP4 BMPR1A BMPR1B MSX1 PTEN RDH10

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. 61
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

GO Terms for Chromosome 10q23 Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 HFE-transferrin receptor complex GO:1990712 8.62 BMPR1B BMPR1A

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 MSX1 MESP1 BMPR1B BMPR1A BMP4
2 negative regulation of apoptotic process GO:0043066 9.95 PTEN MSX1 MPZ BMP4
3 heart development GO:0007507 9.86 PTEN MSX1 BMPR1A BMP4
4 in utero embryonic development GO:0001701 9.78 WDR19 RDH10 MSX1 BMPR1A
5 cellular response to growth factor stimulus GO:0071363 9.75 BMPR1B BMPR1A BMP4
6 positive regulation of osteoblast differentiation GO:0045669 9.74 BMPR1B BMPR1A BMP4
7 odontogenesis of dentin-containing tooth GO:0042475 9.72 MSX1 BMPR1A BMP4
8 outflow tract morphogenesis GO:0003151 9.71 BMPR1A BMP4
9 embryonic digit morphogenesis GO:0042733 9.71 MSX1 BMPR1A BMP4
10 somitogenesis GO:0001756 9.7 MESP1 BMPR1A
11 positive regulation of cell differentiation GO:0045597 9.7 BMPR1B BMP4
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 BMPR1A BMP4
13 dorsal/ventral pattern formation GO:0009953 9.7 BMPR1B BMPR1A
14 embryonic limb morphogenesis GO:0030326 9.7 WDR19 MSX1 BMP4
15 odontogenesis GO:0042476 9.69 MSX1 BMP4
16 protein localization to nucleus GO:0034504 9.69 MSX1 BMP4
17 metanephros development GO:0001656 9.69 RDH10 BMP4
18 embryonic organ development GO:0048568 9.68 RDH10 BMPR1A
19 positive regulation of BMP signaling pathway GO:0030513 9.68 MSX1 BMP4
20 embryonic cranial skeleton morphogenesis GO:0048701 9.68 WDR19 BMP4
21 embryonic forelimb morphogenesis GO:0035115 9.68 RDH10 MSX1
22 endoderm development GO:0007492 9.67 BMPR1A BMP4
23 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.67 BMPR1A BMP4
24 embryonic hindlimb morphogenesis GO:0035116 9.67 MSX1 BMP4
25 heart morphogenesis GO:0003007 9.67 MSX1 MESP1 BMPR1A
26 outflow tract septum morphogenesis GO:0003148 9.66 BMPR1A BMP4
27 cardiac muscle cell differentiation GO:0055007 9.66 MESP1 BMP4
28 neural crest cell development GO:0014032 9.65 RDH10 BMPR1A
29 signal transduction involved in regulation of gene expression GO:0023019 9.65 MSX1 MESP1
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.64 BMPR1B BMPR1A
31 positive regulation of cartilage development GO:0061036 9.63 BMPR1B BMP4
32 cardiac right ventricle morphogenesis GO:0003215 9.63 BMPR1A BMP4
33 chondrocyte differentiation GO:0002062 9.63 BMPR1B BMPR1A BMP4
34 embryonic camera-type eye development GO:0031076 9.62 WDR19 RDH10
35 gonad development GO:0008406 9.62 WDR19 RDH10
36 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 MSX1 BMP4
37 positive regulation of SMAD protein signal transduction GO:0060391 9.61 BMPR1A BMP4
38 positive regulation of bone mineralization GO:0030501 9.61 BMPR1B BMPR1A BMP4
39 secondary heart field specification GO:0003139 9.6 MESP1 BMP4
40 pharyngeal arch artery morphogenesis GO:0061626 9.59 BMPR1A BMP4
41 bud elongation involved in lung branching GO:0060449 9.58 RDH10 BMP4
42 mesoderm formation GO:0001707 9.58 MESP1 BMPR1A BMP4
43 cellular response to BMP stimulus GO:0071773 9.54 BMPR1B BMPR1A BMP4
44 lateral mesoderm development GO:0048368 9.51 MESP1 BMPR1A
45 pituitary gland development GO:0021983 9.5 MSX1 BMPR1A BMP4
46 BMP signaling pathway GO:0030509 9.46 MSX1 BMPR1B BMPR1A BMP4
47 embryonic morphogenesis GO:0048598 9.43 MSX1 BMPR1A BMP4
48 cartilage development GO:0051216 9.26 MSX1 BMPR1B BMPR1A BMP4
49 BMP signaling pathway involved in heart development GO:0061312 8.8 MSX1 BMPR1A BMP4

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.26 BMPR1B BMPR1A
2 enhancer binding GO:0035326 9.16 MSX1 MESP1
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1B BMPR1A
4 transforming growth factor beta receptor activity, type I GO:0005025 8.62 BMPR1B 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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