MCID: CHR355
MIFTS: 33

Chromosome 15q13.3 Microdeletion Syndrome

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

Aliases & Classifications for Chromosome 15q13.3 Microdeletion Syndrome

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

Name: Chromosome 15q13.3 Microdeletion Syndrome 54 12 50 13 42 14
15q13.3 Microdeletion Syndrome 12 50 24 25 56 29
15q13.3 Microdeletion 23 50 24 25
Chromosome 15q13.3 Deletion Syndrome 50 25
Microdeletion 15q13.3 Syndrome 50
Monosomy 15q13.3 56
Del(15)(q13.3) 56

Characteristics:

Orphanet epidemiological data:

56
15q13.3 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood;

HPO:

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


GeneReviews:

23
Penetrance The penetrance of the 15q13.3 microdeletion is highly variable...

Classifications:



Summaries for Chromosome 15q13.3 Microdeletion Syndrome

NIH Rare Diseases : 50 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. last updated: 4/18/2016

MalaCards based summary : Chromosome 15q13.3 Microdeletion Syndrome, also known as 15q13.3 microdeletion syndrome, is related to chromosome 15q11-q13 duplication syndrome and luxation of globe, and has symptoms including short stature, strabismus and seizures. An important gene associated with Chromosome 15q13.3 Microdeletion Syndrome is DEL15Q13.3 (Chromosome 15q13.3 Microdeletion Syndrome). Affiliated tissues include heart.

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.

OMIM : 54
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 Microdeletion Syndrome

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

id Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.0
2 luxation of globe 10.4 CHRFAM7A CHRNA7
3 epilepsy 10.2
4 idiopathic generalized epilepsy 10.1
5 autism spectrum disorder 9.9
6 schizophrenia 9.9
7 atypical autism 9.6 FAN1 TOR3A UBE3A
8 posterior polar cataract 9.6 MTMR10 OTUD7A TRPM1
9 dyserythropoietic anemia, congenital, type iii 4.6 APPL1 ARHGAP11B AVEN CHRFAM7A CHRNA7 DEL15Q13.3

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



Diseases related to Chromosome 15q13.3 Microdeletion Syndrome

Symptoms & Phenotypes for Chromosome 15q13.3 Microdeletion Syndrome

Clinical features from OMIM:

612001

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

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 strabismus 56 32 very rare (1%) Occasional (29-5%) HP:0000486
3 seizures 56 32 very rare (1%) Occasional (29-5%) HP:0001250
4 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
5 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
6 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
7 macrocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000256
8 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
9 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
10 schizophrenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100753
11 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
12 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
13 muscular hypotonia 56 32 very rare (1%) Occasional (29-5%) HP:0001252
14 prominent nasal tip 56 32 occasional (7.5%) Occasional (29-5%) HP:0005274
15 attention deficit hyperactivity disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007018
16 macrotia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000400
17 bipolar affective disorder 56 32 occasional (7.5%) Occasional (29-5%) HP:0007302
18 melanocytic nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000995
19 protruding ear 56 32 occasional (7.5%) Occasional (29-5%) HP:0000411
20 clinodactyly of the 5th finger 56 32 very rare (1%) Occasional (29-5%) HP:0004209
21 brachydactyly 32 very rare (1%) HP:0001156
22 intellectual disability, severe 32 very rare (1%) HP:0010864
23 hypertelorism 32 very rare (1%) HP:0000316
24 intellectual disability, mild 32 very rare (1%) HP:0001256
25 synophrys 32 very rare (1%) HP:0000664
26 intellectual disability, moderate 32 very rare (1%) HP:0002342
27 behavioral abnormality 32 very rare (1%) HP:0000708
28 abnormal facial shape 32 frequent (33%) HP:0001999
29 malformation of the heart and great vessels 56 Occasional (29-5%)
30 abnormality of the pinna 32 very rare (1%) HP:0000377
31 abnormality of the face 32 HP:0000271
32 specific learning disability 32 very rare (1%) HP:0001328
33 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
34 abnormality of the palpebral fissures 32 very rare (1%) HP:0008050

Drugs & Therapeutics for Chromosome 15q13.3 Microdeletion Syndrome

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

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

Genetic Tests for Chromosome 15q13.3 Microdeletion Syndrome

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

id Genetic test Affiliating Genes
1 15q13.3 Microdeletion Syndrome 29
2 15q13.3 Microdeletion 24

Anatomical Context for Chromosome 15q13.3 Microdeletion Syndrome

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

39
Heart

Publications for Chromosome 15q13.3 Microdeletion Syndrome

Articles related to Chromosome 15q13.3 Microdeletion Syndrome:

id 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 Microdeletion Syndrome

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

6
id 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

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

7
id 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 Microdeletion Syndrome

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

Pathways for Chromosome 15q13.3 Microdeletion Syndrome

GO Terms for Chromosome 15q13.3 Microdeletion Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 axolemma GO:0030673 8.32 KCNC1

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

id Name GO ID Score Top Affiliating Genes
1 protein tetramerization GO:0051262 8.62 KCNC1 TRPM1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 8.62 CHRFAM7A CHRNA7

Sources for Chromosome 15q13.3 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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