MCID: CHR610
MIFTS: 21

Chromosome 10q22.3-Q23.2 Deletion Syndrome

Categories: 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 58 30 6
10q22.3q23.3 Microdeletion Syndrome 60
Deletion 10q22.3q23.3 60
Monosomy 10q22.3q23.3 60
Del(10)(q22.3q23.3) 60

Characteristics:

Orphanet epidemiological data:

60
10q22.3q23.3 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

HPO:

33
chromosome 10q22.3-q23.2 deletion syndrome:
Inheritance contiguous gene syndrome


Classifications:



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

OMIM : 58 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 10q22.3q23.3 microdeletion syndrome, is related to 10q22.3q23 microdeletion syndrome. Affiliated tissues include eye and breast, and related phenotypes are macrocephaly and intellectual disability

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 11.5

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

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

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
5 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
6 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
7 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
8 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
9 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
10 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
11 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
12 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
13 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
14 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
15 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
16 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
17 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
18 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
19 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
20 arachnodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001166
21 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
22 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
23 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
24 microretrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000308
25 intestinal polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0200008
26 talipes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001883
27 atrioventricular canal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0006695
28 tricuspid valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001704
29 breast aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100783
30 curved middle phalanx of the 4th toe 60 33 occasional (7.5%) Occasional (29-5%) HP:0100444
31 smooth philtrum 33 HP:0000319
32 broad forehead 33 HP:0000337
33 deeply set eye 33 HP:0000490
34 thin upper lip vermilion 33 HP:0000219
35 expressive language delay 33 HP:0002474
36 receptive language delay 33 HP:0010863

Clinical features from OMIM:

612242

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 30

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

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

42
Eye, Breast

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

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 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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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