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 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 cellular

Related Diseases for Chromosome 10q23 Deletion Syndrome

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis syndrome 29.9 PTEN BMPR1A BMP4
2 juvenile polyposis of infancy 10.2 PTEN BMPR1A
3 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 PTEN BMPR1A
4 penile disease 10.1 PTEN BMPR1A
5 brachydactyly, type a1 10.1 BMPR1B BMPR1A
6 pulmonary arterial hypertension associated with congenital heart disease 10.1 BMPR1B BMPR1A
7 tooth size 10.1 MSX1 BMP4
8 ruvalcaba syndrome 10.1
9 syngnathia 10.1 MSX1 BMP4
10 anodontia 10.0 MSX1 BMP4
11 cleft lip with or without cleft palate 10.0 MSX1 BMP4
12 persistent mullerian duct syndrome 10.0 BMPR1B BMPR1A
13 orofacial cleft 11 10.0 BMPR1B BMP4
14 omphalocele 10.0 MSX1 BMPR1A
15 multiple synostoses syndrome 10.0 BMPR1B BMPR1A
16 proximal symphalangism 9.9 BMPR1B BMP4
17 chronic pulmonary heart disease 9.9 BMPR1B BMP4
18 parietal foramina 9.9 MSX1 BMPR1B
19 hereditary mixed polyposis syndrome 9.9 PTEN BMPR1A BMP4
20 van der woude syndrome 1 9.9 MSX1 BMP4
21 orofacial cleft 9.8 MSX1 BMPR1A BMP4
22 brachydactyly, type a1, b 9.8 BMPR1B BMPR1A BMP4
23 fibrodysplasia ossificans progressiva 9.8 BMPR1B BMPR1A BMP4
24 brachydactyly, type a2 9.8 BMPR1B BMPR1A BMP4
25 cleft lip/palate 9.7 MSX1 BMP4
26 cleft palate, isolated 9.6 MSX1 BMPR1A BMP4
27 tetralogy of fallot 9.5 MSX1 MESP1 BMP4
28 chromosome 2q35 duplication syndrome 9.5 MSX1 BMPR1B BMPR1A BMP4
29 pulmonary hypertension 9.3 BMPR1B BMPR1A BMP4

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 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.16 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
2 cellular MP:0005384 10.11 BMP4 BMPR1A BMPR1B MESP1 MPZ PBX2
3 craniofacial MP:0005382 10.1 BMP4 BMPR1A BMPR1B MESP1 MSX1 PBX2
4 mortality/aging MP:0010768 10.09 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
5 embryo MP:0005380 10.08 BMP4 BMPR1A BMPR1B MESP1 MSX1 PTEN
6 homeostasis/metabolism MP:0005376 10.08 BMP4 BMPR1A MESP1 MPZ MSX1 PBX2
7 endocrine/exocrine gland MP:0005379 10.07 BMP4 BMPR1A BMPR1B MESP1 MSX1 PTEN
8 cardiovascular system MP:0005385 10.05 BMP4 BMPR1A MESP1 MSX1 PTEN RDH10
9 digestive/alimentary MP:0005381 10.02 BMP4 BMPR1A MSX1 PBX2 PTEN RDH10
10 nervous system MP:0003631 10.02 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
11 limbs/digits/tail MP:0005371 9.93 BMP4 BMPR1A BMPR1B MSX1 PTEN RDH10
12 normal MP:0002873 9.92 BMP4 BMPR1A BMPR1B MESP1 MSX1 PBX2
13 hearing/vestibular/ear MP:0005377 9.89 BMP4 BMPR1A MESP1 MSX1 RDH10
14 muscle MP:0005369 9.8 BMP4 BMPR1A MESP1 MSX1 PTEN
15 respiratory system MP:0005388 9.76 BMP4 BMPR1A MESP1 MPZ MSX1 PBX2
16 reproductive system MP:0005389 9.73 BMP4 BMPR1A BMPR1B MPZ PTEN RDH10
17 skeleton MP:0005390 9.61 BMP4 BMPR1A BMPR1B MESP1 MPZ MSX1
18 vision/eye MP:0005391 9.1 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 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 PBX2 MSX1 MESP1 BMPR1B BMPR1A BMP4
2 negative regulation of apoptotic process GO:0043066 9.94 PTEN MSX1 MPZ BMP4
3 heart development GO:0007507 9.87 PTEN MSX1 BMPR1A BMP4
4 in utero embryonic development GO:0001701 9.84 RDH10 MSX1 BMPR1A
5 cellular response to growth factor stimulus GO:0071363 9.76 BMPR1B BMPR1A BMP4
6 positive regulation of osteoblast differentiation GO:0045669 9.75 BMPR1B BMPR1A BMP4
7 embryonic digit morphogenesis GO:0042733 9.73 MSX1 BMPR1A BMP4
8 odontogenesis of dentin-containing tooth GO:0042475 9.72 MSX1 BMPR1A BMP4
9 embryonic limb morphogenesis GO:0030326 9.71 PBX2 MSX1 BMP4
10 outflow tract morphogenesis GO:0003151 9.7 BMPR1A BMP4
11 somitogenesis GO:0001756 9.7 MESP1 BMPR1A
12 positive regulation of cell differentiation GO:0045597 9.7 BMPR1B BMP4
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.69 BMPR1A BMP4
14 eye development GO:0001654 9.69 PBX2 BMPR1B
15 dorsal/ventral pattern formation GO:0009953 9.69 BMPR1B BMPR1A
16 heart morphogenesis GO:0003007 9.69 MSX1 MESP1 BMPR1A
17 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.68 BMPR1A BMP4
18 odontogenesis GO:0042476 9.68 MSX1 BMP4
19 positive regulation of BMP signaling pathway GO:0030513 9.68 MSX1 BMP4
20 metanephros development GO:0001656 9.68 RDH10 BMP4
21 protein localization to nucleus GO:0034504 9.67 MSX1 BMP4
22 embryonic forelimb morphogenesis GO:0035115 9.67 RDH10 MSX1
23 endoderm development GO:0007492 9.66 BMPR1A BMP4
24 embryonic hindlimb morphogenesis GO:0035116 9.66 MSX1 BMP4
25 outflow tract septum morphogenesis GO:0003148 9.65 BMPR1A BMP4
26 cardiac muscle cell differentiation GO:0055007 9.65 MESP1 BMP4
27 neural crest cell development GO:0014032 9.65 RDH10 BMPR1A
28 embryonic organ development GO:0048568 9.65 RDH10 PBX2 BMPR1A
29 signal transduction involved in regulation of gene expression GO:0023019 9.64 MSX1 MESP1
30 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.63 BMPR1B BMPR1A
31 positive regulation of cartilage development GO:0061036 9.63 BMPR1B BMP4
32 chondrocyte differentiation GO:0002062 9.63 BMPR1B BMPR1A BMP4
33 positive regulation of SMAD protein signal transduction GO:0060391 9.62 BMPR1A BMP4
34 cardiac right ventricle morphogenesis GO:0003215 9.62 BMPR1A BMP4
35 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 MSX1 BMP4
36 secondary heart field specification GO:0003139 9.61 MESP1 BMP4
37 positive regulation of bone mineralization GO:0030501 9.61 BMPR1B BMPR1A BMP4
38 pharyngeal arch artery morphogenesis GO:0061626 9.6 BMPR1A BMP4
39 bud elongation involved in lung branching GO:0060449 9.59 RDH10 BMP4
40 cellular response to BMP stimulus GO:0071773 9.58 BMPR1B BMPR1A BMP4
41 mesoderm formation GO:0001707 9.54 MESP1 BMPR1A BMP4
42 lateral mesoderm development GO:0048368 9.52 MESP1 BMPR1A
43 pituitary gland development GO:0021983 9.5 MSX1 BMPR1A BMP4
44 BMP signaling pathway GO:0030509 9.46 MSX1 BMPR1B BMPR1A BMP4
45 embryonic morphogenesis GO:0048598 9.43 MSX1 BMPR1A BMP4
46 cartilage development GO:0051216 9.26 MSX1 BMPR1B BMPR1A BMP4
47 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.62 PBX2 MSX1 MESP1 BMPR1A
2 SMAD binding GO:0046332 9.26 BMPR1B BMPR1A
3 enhancer binding GO:0035326 9.16 MSX1 MESP1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1B BMPR1A
5 transforming growth factor beta receptor activity, type I GO:0005025 8.62 BMPR1B BMPR1A

Sources for Chromosome 10q23 Deletion Syndrome

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11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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