MCID: CHR662
MIFTS: 34

Chromosome 15q13.3 Deletion Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 15q13.3 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q13.3 Deletion Syndrome:

Name: Chromosome 15q13.3 Deletion Syndrome 57 53 25
Chromosome 15q13.3 Microdeletion Syndrome 57 12 53 37 13 44 15
15q13.3 Microdeletion Syndrome 12 53 25 59 29 6
15q13.3 Microdeletion 24 53 25
Microdeletion 15q13.3 Syndrome 53
Monosomy 15q13.3 59
Del(15)(q13.3) 59

Characteristics:

Orphanet epidemiological data:

59
15q13.3 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

HPO:

32
chromosome 15q13.3 deletion syndrome:
Onset and clinical course incomplete penetrance phenotypic variability
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance of the 15q13.3 microdeletion is highly variable...

Classifications:



Summaries for Chromosome 15q13.3 Deletion Syndrome

NIH Rare Diseases : 53 15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion. Treatment typically focuses on individual signs and symptoms when possible.

MalaCards based summary : Chromosome 15q13.3 Deletion Syndrome, also known as chromosome 15q13.3 microdeletion syndrome, is related to chromosome 15q11-q13 duplication syndrome and epilepsy. An important gene associated with Chromosome 15q13.3 Deletion Syndrome is DEL15Q13.3 (Chromosome 15q13.3 Microdeletion Syndrome). Affiliated tissues include heart, and related phenotypes are microcephaly and macrocephaly

OMIM : 57 Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010). (612001)

Genetics Home Reference : 25 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.

GeneReviews: NBK50780

Related Diseases for Chromosome 15q13.3 Deletion Syndrome

Diseases related to Chromosome 15q13.3 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.1
2 epilepsy 10.3
3 epilepsy, idiopathic generalized 10.2
4 interstitial nephritis, karyomegalic 10.1 FAN1 MTMR10
5 autism 10.0
6 autism spectrum disorder 10.0
7 intermittent explosive disorder 10.0 CHRFAM7A CHRNA7
8 schizophrenia 9.9
9 pervasive developmental disorder 9.4 FAN1 TOR3A UBE3A

Graphical network of the top 20 diseases related to Chromosome 15q13.3 Deletion Syndrome:



Diseases related to Chromosome 15q13.3 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q13.3 Deletion Syndrome

Clinical features from OMIM:

612001

Human phenotypes related to Chromosome 15q13.3 Deletion Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
2 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
3 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
4 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
5 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
6 strabismus 59 32 very rare (1%) Occasional (29-5%) HP:0000486
7 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
8 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
9 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
10 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
11 seizures 59 32 very rare (1%) Occasional (29-5%) HP:0001250
12 muscular hypotonia 59 32 very rare (1%) Occasional (29-5%) HP:0001252
13 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
14 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
15 clinodactyly of the 5th finger 59 32 very rare (1%) Occasional (29-5%) HP:0004209
16 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
17 prominent nasal tip 59 32 occasional (7.5%) Occasional (29-5%) HP:0005274
18 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
19 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
20 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
21 malformation of the heart and great vessels 59 Occasional (29-5%)
22 abnormality of the face 32 HP:0000271
23 hypertelorism 32 very rare (1%) HP:0000316
24 abnormality of the pinna 32 very rare (1%) HP:0000377
25 synophrys 32 very rare (1%) HP:0000664
26 behavioral abnormality 32 very rare (1%) HP:0000708
27 brachydactyly 32 very rare (1%) HP:0001156
28 intellectual disability, mild 32 very rare (1%) HP:0001256
29 specific learning disability 32 very rare (1%) HP:0001328
30 abnormal facial shape 32 frequent (33%) HP:0001999
31 intellectual disability, moderate 32 very rare (1%) HP:0002342
32 abnormality of the palpebral fissures 32 very rare (1%) HP:0008050
33 intellectual disability, severe 32 very rare (1%) HP:0010864
34 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680

Drugs & Therapeutics for Chromosome 15q13.3 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q13.3 Deletion Syndrome

Cochrane evidence based reviews: chromosome 15q13.3 microdeletion syndrome

Genetic Tests for Chromosome 15q13.3 Deletion Syndrome

Genetic tests related to Chromosome 15q13.3 Deletion Syndrome:

# Genetic test Affiliating Genes
1 15q13.3 Microdeletion Syndrome 29 CHRNA7 KLF13

Anatomical Context for Chromosome 15q13.3 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q13.3 Deletion Syndrome:

41
Heart

Publications for Chromosome 15q13.3 Deletion Syndrome

Articles related to Chromosome 15q13.3 Deletion Syndrome:

# Title Authors Year
1
Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder. ( 26658876 )
2015

Variations for Chromosome 15q13.3 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 15q13.3 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 15q13.3 deletion Pathogenic GRCh37 Chromosome 15, 31137104: 32445408
2 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 GRCh37/hg19 15q13.2-13.3(chr15: 31108661-32446830)x1 copy number loss not provided GRCh37 Chromosome 15, 31108661: 32446830

Copy number variations for Chromosome 15q13.3 Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 91036 15 27359655 28801860 Deletion APBA2 15q13.3 microdeletion syndrome
2 91037 15 27359655 28801860 Deletion CHRFAM7A 15q13.3 microdeletion syndrome
3 91038 15 27359655 28801860 Deletion CHRNA7 15q13.3 microdeletion syndrome
4 91039 15 27359655 28801860 Deletion FAM189A1 15q13.3 microdeletion syndrome
5 91040 15 27359655 28801860 Deletion FAM7A 15q13.3 microdeletion syndrome
6 91041 15 27359655 28801860 Deletion NDNL2 15q13.3 microdeletion syndrome
7 91042 15 27359655 28801860 Deletion TJP1 15q13.3 microdeletion syndrome

Expression for Chromosome 15q13.3 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q13.3 Deletion Syndrome.

Pathways for Chromosome 15q13.3 Deletion Syndrome

GO Terms for Chromosome 15q13.3 Deletion Syndrome

Cellular components related to Chromosome 15q13.3 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated channel complex GO:0005892 8.96 CHRFAM7A CHRNA7
2 axolemma GO:0030673 8.62 CHRNA7 KCNC1

Biological processes related to Chromosome 15q13.3 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tetramerization GO:0051262 8.96 KCNC1 TRPM1
2 synaptic transmission, cholinergic GO:0007271 8.62 CHRFAM7A CHRNA7

Molecular functions related to Chromosome 15q13.3 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.16 CHRFAM7A CHRNA7
2 acetylcholine binding GO:0042166 8.96 CHRFAM7A CHRNA7
3 acetylcholine receptor activity GO:0015464 8.62 CHRFAM7A CHRNA7

Sources for Chromosome 15q13.3 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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