MCID: CHR662
MIFTS: 35

Chromosome 15q13.3 Deletion Syndrome

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

Aliases & Classifications for Chromosome 15q13.3 Deletion Syndrome

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

Name: Chromosome 15q13.3 Deletion Syndrome 58 54 26
Chromosome 15q13.3 Microdeletion Syndrome 58 12 54 38 13 45 15
15q13.3 Microdeletion Syndrome 12 54 26 60 30 6
15q13.3 Microdeletion 25 54 26
Microdeletion 15q13.3 Syndrome 54
Monosomy 15q13.3 60
Del(15)(q13.3) 60

Characteristics:

Orphanet epidemiological data:

60
15q13.3 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

HPO:

33
chromosome 15q13.3 deletion syndrome:
Onset and clinical course incomplete penetrance phenotypic variability
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance The penetrance of the 15q13.3 microdeletion is highly variable...

Classifications:



Summaries for Chromosome 15q13.3 Deletion Syndrome

NIH Rare Diseases : 54 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, idiopathic generalized. 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 intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has material basis in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.

Genetics Home Reference : 26 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.

OMIM : 58 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)

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 11.3
2 epilepsy, idiopathic generalized 10.3
3 autism 10.2
4 autism spectrum disorder 10.2
5 schizophrenia 10.1
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 epilepsy 10.1
8 west syndrome 10.1
9 intermittent explosive disorder 9.9 CHRFAM7A CHRNA7
10 pervasive developmental disorder 9.7 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

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

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
3 abnormal facial shape 33 frequent (33%) HP:0001999
4 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
5 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
6 seizures 60 33 very rare (1%) Occasional (29-5%) HP:0001250
7 muscular hypotonia 60 33 very rare (1%) Occasional (29-5%) HP:0001252
8 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
9 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
10 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
11 strabismus 60 33 very rare (1%) Occasional (29-5%) HP:0000486
12 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
13 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
14 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
15 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
16 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
17 clinodactyly of the 5th finger 60 33 very rare (1%) Occasional (29-5%) HP:0004209
18 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
19 bipolar affective disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007302
20 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
21 prominent nasal tip 60 33 occasional (7.5%) Occasional (29-5%) HP:0005274
22 abnormality of cardiovascular system morphology 33 very rare (1%) HP:0030680
23 hypertelorism 33 very rare (1%) HP:0000316
24 behavioral abnormality 33 very rare (1%) HP:0000708
25 intellectual disability, mild 33 very rare (1%) HP:0001256
26 intellectual disability, severe 33 very rare (1%) HP:0010864
27 specific learning disability 33 very rare (1%) HP:0001328
28 abnormality of the pinna 33 very rare (1%) HP:0000377
29 intellectual disability, moderate 33 very rare (1%) HP:0002342
30 brachydactyly 33 very rare (1%) HP:0001156
31 synophrys 33 very rare (1%) HP:0000664
32 abnormality of the palpebral fissures 33 very rare (1%) HP:0008050
33 malformation of the heart and great vessels 60 Occasional (29-5%)
34 abnormality of the face 33 HP:0000271

Clinical features from OMIM:

612001

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 30 CHRNA7 KLF13

Anatomical Context for Chromosome 15q13.3 Deletion Syndrome

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

42
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
3 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 GRCh37/hg19 15q13.2-13.3(chr15: 31108661-32446830)x1 copy number loss Uncertain significance 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 8.62 CHRFAM7A CHRNA7

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

# Name GO ID Score Top Affiliating Genes
1 regulation of postsynaptic membrane potential GO:0060078 9.16 CHRFAM7A CHRNA7
2 protein tetramerization GO:0051262 8.96 KCNC1 TRPM1
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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