MCID: CHR610
MIFTS: 35

Chromosome 10q22.3-Q23.2 Deletion Syndrome

Categories: Gastrointestinal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 10q22.3-Q23.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 10q22.3-Q23.2 Deletion Syndrome:

Name: Chromosome 10q22.3-Q23.2 Deletion Syndrome 57 29 6
Juvenile Polyposis of Infancy 59 29 6
Infantile Juvenile Polyposis Syndrome 59
10q22.3q23.3 Microdeletion Syndrome 59
Deletion 10q22.3q23.3 59
Monosomy 10q22.3q23.3 59
Del(10)(q22.3q23.3) 59

Characteristics:

Orphanet epidemiological data:

59
10q22.3q23.3 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;
juvenile polyposis of infancy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
chromosome 10q22.3-q23.2 deletion syndrome:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Chromosome 10q22.3-Q23.2 Deletion Syndrome

OMIM : 57 The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011). (612242)

MalaCards based summary : Chromosome 10q22.3-Q23.2 Deletion Syndrome, also known as juvenile polyposis of infancy, is related to 10q22.3q23 microdeletion syndrome and chromosome 10q23 deletion syndrome. An important gene associated with Chromosome 10q22.3-Q23.2 Deletion Syndrome is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways is Integrated Breast Cancer Pathway. Affiliated tissues include colon, eye and breast, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Diseases related to Chromosome 10q22.3-Q23.2 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 10q22.3q23 microdeletion syndrome 11.3
2 chromosome 10q23 deletion syndrome 9.5 BMPR1A PTEN
3 bannayan-riley-ruvalcaba syndrome 9.4 BMPR1A PTEN
4 polyposis, skin pigmentation, alopecia, and fingernail changes 9.3 BMPR1A PTEN
5 juvenile polyposis syndrome 9.2 BMPR1A PTEN
6 cowden disease 9.0 BMPR1A PTEN

Graphical network of the top 20 diseases related to Chromosome 10q22.3-Q23.2 Deletion Syndrome:



Diseases related to Chromosome 10q22.3-Q23.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Clinical features from OMIM:

612242

Human phenotypes related to Chromosome 10q22.3-Q23.2 Deletion Syndrome:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
10 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
11 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
12 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
13 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
14 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
15 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
16 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
17 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
18 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
19 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
20 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
21 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
22 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
23 microretrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000308
24 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
25 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
26 atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0006695
27 tricuspid valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001704
28 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
29 language impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002463
30 curved middle phalanx of the 4th toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0100444
31 smooth philtrum 32 HP:0000319
32 broad forehead 32 HP:0000337
33 deeply set eye 32 HP:0000490
34 thin upper lip vermilion 32 HP:0000219
35 expressive language delay 32 HP:0002474
36 receptive language delay 32 HP:0010863

GenomeRNAi Phenotypes related to Chromosome 10q22.3-Q23.2 Deletion Syndrome according to GeneCards Suite gene sharing:

26 (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 10q22.3-Q23.2 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 BMPR1A PTEN

Drugs & Therapeutics for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Genetic Tests for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Genetic tests related to Chromosome 10q22.3-Q23.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 10q22.3-Q23.2 Deletion Syndrome 29
2 Juvenile Polyposis of Infancy 29

Anatomical Context for Chromosome 10q22.3-Q23.2 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 10q22.3-Q23.2 Deletion Syndrome:

41
Colon, Eye, Breast

Publications for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Articles related to Chromosome 10q22.3-Q23.2 Deletion Syndrome:

# Title Authors Year
1
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. ( 23331837 )
2013
2
Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report. ( 20334546 )
2010
3
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. ( 16909400 )
2006
4
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. ( 16685657 )
2006
5
[Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes]. ( 17101085 )
2006

Variations for Chromosome 10q22.3-Q23.2 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 10q22.3-Q23.2 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, DEL deletion Pathogenic
2 NC_000010.9: g.87887949_90299688del deletion Pathogenic NCBI36 Chromosome 10, 87887949: 90299688

Expression for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 10q22.3-Q23.2 Deletion Syndrome.

Pathways for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Pathways related to Chromosome 10q22.3-Q23.2 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 BMPR1A PTEN

GO Terms for Chromosome 10q22.3-Q23.2 Deletion Syndrome

Biological processes related to Chromosome 10q22.3-Q23.2 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 10q22.3-Q23.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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