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 44 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0060389
MeSH 44 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 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 are Human Embryonic Stem Cell Pluripotency and Hippo signaling pathway. Related phenotypes are cellular and growth/size/body region

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 30)
# Related Disease Score Top Affiliating Genes
1 ruvalcaba syndrome 30.4 PTEN BMPR1A
2 juvenile polyposis syndrome 29.3 PTEN BMPR1B BMPR1A BMP4
3 juvenile polyposis of infancy 10.2 PTEN BMPR1A
4 large intestine lipoma 10.1 PTEN BMPR1A
5 lipoma of colon 10.1 PTEN BMPR1A
6 brachydactyly, type a1 10.1 BMPR1B BMPR1A
7 penile disease 10.1 PTEN BMPR1A
8 pulmonary arterial hypertension associated with congenital heart disease 10.1 BMPR1B BMPR1A
9 persistent mullerian duct syndrome 10.0 BMPR1B BMPR1A
10 multiple synostoses syndrome 9.9 BMPR1B BMPR1A
11 tooth size 9.8 MSX1 BMP4
12 orofacial cleft 11 9.8 BMPR1B BMP4
13 hereditary mixed polyposis syndrome 9.8 PTEN BMPR1A BMP4
14 chronic pulmonary heart disease 9.8 BMPR1B BMP4
15 parietal foramina 9.7 MSX1 BMPR1B ALX3
16 branchiooculofacial syndrome 9.7 MSX1 BMP4
17 proximal symphalangism 9.7 BMPR1B BMP4
18 brachydactyly, type a1, b 9.7 BMPR1B BMPR1A BMP4
19 fibrodysplasia ossificans progressiva 9.7 BMPR1B BMPR1A BMP4
20 brachydactyly, type a2 9.6 BMPR1B BMPR1A BMP4
21 waardenburg's syndrome 9.6 MSX1 MPZ BMP4
22 van der woude syndrome 1 9.6 MSX1 BMP4
23 syngnathia 9.6 MSX1 BMP4 ALX3
24 chromosome 2q35 duplication syndrome 9.5 MSX1 BMPR1B BMP4
25 cleft lip/palate 9.5 MSX1 BMP4
26 holoprosencephaly 9.4 MSX1 BOC BMPR1A BMP4
27 orofacial cleft 9.4 MSX1 BMPR1A BMP4 ALX3
28 cleft palate, isolated 9.4 MSX1 BMPR1A BMP4 ALX3
29 tetralogy of fallot 9.4 MSX1 MESP1 BMP4
30 double outlet right ventricle 9.4 MSX1 MESP1 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:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ALX3 BMP4 BMPR1A BMPR1B MESP1 MPZ
2 growth/size/body region MP:0005378 10.1 ALX3 BMP4 BMPR1A BMPR1B BOC MESP1
3 craniofacial MP:0005382 10.09 ALX3 BMP4 BMPR1A BMPR1B BOC MESP1
4 mortality/aging MP:0010768 10.09 ALX3 BMP4 BMPR1A BMPR1B BOC MESP1
5 homeostasis/metabolism MP:0005376 10.08 ALX3 BMP4 BMPR1A BOC MESP1 MPZ
6 embryo MP:0005380 10.07 ALX3 BMP4 BMPR1A BMPR1B MESP1 MSX1
7 endocrine/exocrine gland MP:0005379 10.05 ALX3 BMP4 BMPR1A BMPR1B MESP1 MSX1
8 nervous system MP:0003631 10.02 ALX3 BMP4 BMPR1A BMPR1B BOC MESP1
9 digestive/alimentary MP:0005381 10.01 ALX3 BMP4 BMPR1A BOC MSX1 PTEN
10 limbs/digits/tail MP:0005371 10 ALX3 BMP4 BMPR1A BMPR1B BOC MSX1
11 normal MP:0002873 9.87 BMP4 BMPR1A BMPR1B BOC MESP1 MSX1
12 muscle MP:0005369 9.8 BMP4 BMPR1A MESP1 MSX1 PTEN
13 respiratory system MP:0005388 9.76 ALX3 BMP4 BMPR1A BOC MESP1 MPZ
14 reproductive system MP:0005389 9.73 ALX3 BMP4 BMPR1A BMPR1B MPZ PTEN
15 skeleton MP:0005390 9.56 ALX3 BMP4 BMPR1A BMPR1B BOC MESP1
16 vision/eye MP:0005391 9.17 ALX3 BMP4 BMPR1A BMPR1B BOC MSX1

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 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 MSX1 MESP1 BMPR1B BMPR1A BMP4
2 negative regulation of apoptotic process GO:0043066 9.94 PTEN MSX1 MPZ BMP4
3 heart development GO:0007507 9.85 PTEN MSX1 BMPR1A BMP4
4 positive regulation of osteoblast differentiation GO:0045669 9.74 BMPR1B BMPR1A BMP4
5 cellular response to growth factor stimulus GO:0071363 9.73 BMPR1B BMPR1A BMP4
6 odontogenesis of dentin-containing tooth GO:0042475 9.71 MSX1 BMPR1A BMP4
7 pattern specification process GO:0007389 9.69 BMPR1A ALX3
8 embryonic skeletal system morphogenesis GO:0048704 9.69 BMP4 ALX3
9 embryonic digit morphogenesis GO:0042733 9.69 MSX1 BMPR1A BMP4
10 embryonic limb morphogenesis GO:0030326 9.68 MSX1 BMP4
11 outflow tract morphogenesis GO:0003151 9.68 BMPR1A BMP4
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.68 BMPR1A BMP4
13 positive regulation of cell differentiation GO:0045597 9.68 BMPR1B BMP4
14 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.67 BMPR1A BMP4
15 dorsal/ventral pattern formation GO:0009953 9.67 BMPR1B BMPR1A
16 positive regulation of BMP signaling pathway GO:0030513 9.67 MSX1 BMP4
17 heart morphogenesis GO:0003007 9.67 MSX1 MESP1 BMPR1A
18 odontogenesis GO:0042476 9.66 MSX1 BMP4
19 embryonic cranial skeleton morphogenesis GO:0048701 9.66 BMP4 ALX3
20 protein localization to nucleus GO:0034504 9.65 MSX1 BMP4
21 embryonic forelimb morphogenesis GO:0035115 9.65 MSX1 ALX3
22 endoderm development GO:0007492 9.65 BMPR1A BMP4
23 chondrocyte differentiation GO:0002062 9.65 BMPR1B BMPR1A BMP4
24 outflow tract septum morphogenesis GO:0003148 9.64 BMPR1A BMP4
25 cardiac muscle cell differentiation GO:0055007 9.63 MESP1 BMP4
26 signal transduction involved in regulation of gene expression GO:0023019 9.63 MSX1 MESP1
27 cellular response to BMP stimulus GO:0071773 9.63 BMPR1B BMPR1A BMP4
28 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.62 BMPR1B BMPR1A
29 positive regulation of cartilage development GO:0061036 9.61 BMPR1B BMP4
30 positive regulation of SMAD protein signal transduction GO:0060391 9.61 BMPR1A BMP4
31 positive regulation of bone mineralization GO:0030501 9.61 BMPR1B BMPR1A BMP4
32 cardiac right ventricle morphogenesis GO:0003215 9.6 BMPR1A BMP4
33 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.59 MSX1 BMP4
34 secondary heart field specification GO:0003139 9.58 MESP1 BMP4
35 pharyngeal arch artery morphogenesis GO:0061626 9.58 BMPR1A BMP4
36 mesoderm formation GO:0001707 9.58 MESP1 BMPR1A BMP4
37 pituitary gland development GO:0021983 9.54 MSX1 BMPR1A BMP4
38 lateral mesoderm development GO:0048368 9.52 MESP1 BMPR1A
39 embryonic hindlimb morphogenesis GO:0035116 9.5 MSX1 BMP4 ALX3
40 BMP signaling pathway GO:0030509 9.46 MSX1 BMPR1B BMPR1A BMP4
41 embryonic morphogenesis GO:0048598 9.43 MSX1 BMPR1A BMP4
42 cartilage development GO:0051216 9.26 MSX1 BMPR1B BMPR1A BMP4
43 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 9.16 BMPR1B BMPR1A
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1B BMPR1A
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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