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 57 29 6
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;

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 10q22.3q23.3 microdeletion syndrome, is related to 10q22.3q23 microdeletion syndrome. Affiliated tissues include 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 11.5

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

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

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

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

41
Eye, Breast

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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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