MCID: CHR523
MIFTS: 32

Chromosome 15q11.2 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 15q11.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q11.2 Deletion Syndrome:

Name: Chromosome 15q11.2 Deletion Syndrome 57 12 29 6 15
15q11.2 Microdeletion Syndrome 12 20 58
15q11.2 Bp1-Bp2 Microdeletion Syndrome 20 58
Monosomy 15q11.2 20 58
Del(15)(q11.2) 20 58
Syndrome, Deletion, Chromosome 15q11.2 39
Chromosome 15q11.2 Microdeletion 20
Duplication 15q11-Q13 Syndrome 70
Chromosome 15q11.2 Deletion 20
15q11.2 Microdeletion 20
Microdeletion 15q11.2 70

Characteristics:

Orphanet epidemiological data:

58
15q11.2 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
deleted region contains 4 genes that are not imprinted, tubgcp2 , nipa1 , nipa2 , and cyfip1

Inheritance:
autosomal dominant


HPO:

31
chromosome 15q11.2 deletion syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 15q11.2 Deletion Syndrome

GARD : 20 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders ; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.

MalaCards based summary : Chromosome 15q11.2 Deletion Syndrome, also known as 15q11.2 microdeletion syndrome, is related to chromosome 15q11-q13 duplication syndrome and attention deficit-hyperactivity disorder, and has symptoms including seizures, ataxia and clumsiness. An important gene associated with Chromosome 15q11.2 Deletion Syndrome is DEL15Q11.2 (Chromosome 15q11.2 Deletion Syndrome). Affiliated tissues include heart, brain and cortex, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has material basis in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.

OMIM® : 57 A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, and possibly seizures (summary by Doornbos et al., 2009 and Burnside et al., 2011). See also chromosome 15q11.2 duplication syndrome (608636). (615656) (Updated 05-Apr-2021)

Related Diseases for Chromosome 15q11.2 Deletion Syndrome

Diseases related to Chromosome 15q11.2 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.2
2 attention deficit-hyperactivity disorder 10.4
3 autism spectrum disorder 10.4
4 congenital amyoplasia 10.4
5 prader-willi syndrome 10.1
6 common cold 10.0
7 microcephaly 10.0
8 learning disability 10.0
9 angelman syndrome 10.0
10 hypertelorism 10.0
11 obsessive-compulsive disorder 10.0
12 tracheoesophageal fistula with or without esophageal atresia 10.0
13 autism 10.0
14 leptin deficiency or dysfunction 10.0
15 periventricular nodular heterotopia 10.0
16 apraxia 10.0
17 esophageal atresia 10.0
18 heart disease 10.0
19 epilepsy 10.0
20 cataract 10.0
21 hypoplastic left heart syndrome 10.0
22 15q duplication syndrome and related disorders 10.0
23 hypotonia 10.0
24 infantile hypotonia 10.0

Graphical network of the top 20 diseases related to Chromosome 15q11.2 Deletion Syndrome:



Diseases related to Chromosome 15q11.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q11.2 Deletion Syndrome

Human phenotypes related to Chromosome 15q11.2 Deletion Syndrome:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Frequent (79-30%) HP:0001249
2 ataxia 58 31 Occasional (29-5%) HP:0001251
3 global developmental delay 58 31 Frequent (79-30%) HP:0001263
4 delayed speech and language development 58 31 Frequent (79-30%) HP:0000750
5 attention deficit hyperactivity disorder 58 31 Frequent (79-30%) HP:0007018
6 broad forehead 58 31 Occasional (29-5%) HP:0000337
7 abnormal heart morphology 58 31 Occasional (29-5%) HP:0001627
8 autistic behavior 58 31 Occasional (29-5%) HP:0000729
9 seizures 58 Occasional (29-5%)
10 self-injurious behavior 58 Occasional (29-5%)
11 hypertelorism 31 HP:0000316
12 behavioral abnormality 58 Frequent (79-30%)
13 abnormal facial shape 58 Frequent (79-30%)
14 microcephaly 58 Occasional (29-5%)
15 cleft palate 31 HP:0000175
16 autism 58 Occasional (29-5%)
17 atrial septal defect 58 Very rare (<4-1%)
18 coarctation of aorta 58 Very rare (<4-1%)
19 motor delay 58 Frequent (79-30%)
20 obsessive-compulsive behavior 31 HP:0000722
21 tetralogy of fallot 58 Very rare (<4-1%)
22 ventricular septal defect 58 Very rare (<4-1%)
23 schizophrenia 58 Occasional (29-5%)
24 dyslexia 58 Frequent (79-30%)
25 memory impairment 58 Frequent (79-30%)
26 plagiocephaly 31 HP:0001357
27 abnormal palate morphology 58 Frequent (79-30%)
28 feeding difficulties 31 HP:0011968
29 clumsiness 31 HP:0002312
30 brain imaging abnormality 58 Frequent (79-30%)
31 generalized hypotonia 31 HP:0001290
32 short attention span 58 Occasional (29-5%)
33 abnormality of the pinna 58 Frequent (79-30%)
34 slender finger 31 HP:0001238
35 postural instability 58 Occasional (29-5%)
36 poor coordination 58 Occasional (29-5%)
37 thick cerebral cortex 58 Frequent (79-30%)
38 happy demeanor 31 HP:0040082
39 dilated fourth ventricle 58 Very rare (<4-1%)
40 total anomalous pulmonary venous return 58 Very rare (<4-1%)
41 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
clumsiness
speech delay
more
Head And Neck Mouth:
cleft palate

Head And Neck Head:
plagiocephaly

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
congenital heart defects

Skeletal Hands:
slender fingers

Head And Neck Eyes:
hypertelorism

Head And Neck Face:
broad forehead

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
autism spectrum disorder
obsessive-compulsive disorder
attention deficit-hyperactivity disorder (adhd)

Head And Neck Ears:
dysmorphic ears

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

615656 (Updated 05-Apr-2021)

UMLS symptoms related to Chromosome 15q11.2 Deletion Syndrome:


seizures; ataxia; clumsiness

Drugs & Therapeutics for Chromosome 15q11.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q11.2 Deletion Syndrome

Genetic Tests for Chromosome 15q11.2 Deletion Syndrome

Genetic tests related to Chromosome 15q11.2 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 15q11.2 Deletion Syndrome 29

Anatomical Context for Chromosome 15q11.2 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q11.2 Deletion Syndrome:

40
Heart, Brain, Cortex

Publications for Chromosome 15q11.2 Deletion Syndrome

Articles related to Chromosome 15q11.2 Deletion Syndrome:

# Title Authors PMID Year
1
CNVs conferring risk of autism or schizophrenia affect cognition in controls. 57
24352232 2014
2
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. 57
21359847 2011
3
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems. 57
21187176 2011
4
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. 57
19843651 2010
5
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. 57
19328872 2009
6
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. 57
17268193 2007
7
Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency: A case report and literature review. 61
33019446 2020
8
[Clinical analysis of five cases of autism spectrum disorder complicated with epilepsy with chromosome copy number variation]. 61
31510723 2019
9
Cyfip1 Haploinsufficiency Does Not Alter GABAA Receptor δ-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV+ Interneurons and Granule Cells. 61
31209152 2019
10
A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma. 61
30648076 2018

Variations for Chromosome 15q11.2 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 15q11.2 Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23217514)x1 copy number loss Pathogenic 666449 GRCh37: 15:22765628-23217514
GRCh38:
2 PAFAH1B1 and overlap with 6 gene(s) NC_000017.10:g.2591654_2687615del Deletion Likely pathogenic 983494 GRCh37: 17:2591654-2687615
GRCh38: 17:2688360-2784321

Expression for Chromosome 15q11.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q11.2 Deletion Syndrome.

Pathways for Chromosome 15q11.2 Deletion Syndrome

GO Terms for Chromosome 15q11.2 Deletion Syndrome

Sources for Chromosome 15q11.2 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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