MCID: CHR523
MIFTS: 29

Chromosome 15q11.2 Deletion Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Chromosome 15q11.2 Deletion Syndrome

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

Name: Chromosome 15q11.2 Deletion Syndrome 53 12 28
15q11.2 Microdeletion Syndrome 12 49 55
Duplication 15q11-Q13 Syndrome 41 69
Monosomy 15q11.2 49 55
Del(15)(q11.2) 49 55
Chromosome 15q11.2 Microdeletion 49
Chromosome 15q11.2 Deletion 49
15q11.2 Microdeletion 49
Microdeletion 15q11.2 69

Characteristics:

Orphanet epidemiological data:

55
15q11.2 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
incomplete penetrance
deleted region contains 4 genes that are not imprinted, tubgcp2 , nipa1 , nipa2 , and cyfip1


HPO:

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


Classifications:



Summaries for Chromosome 15q11.2 Deletion Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/5/2016

MalaCards based summary : Chromosome 15q11.2 Deletion Syndrome, also known as 15q11.2 microdeletion syndrome, is related to chromosome 15q11-q13 duplication syndrome and autism, and has symptoms including ataxia, seizures and clumsiness. An important gene associated with Chromosome 15q11.2 Deletion Syndrome is DEL15Q11.2 (Chromosome 15q11.2 Deletion Syndrome). Affiliated tissues include heart.

OMIM : 53 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)

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:

# Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.1
2 autism 9.9
3 hypoplastic left heart syndrome 1 9.9
4 alacrima, achalasia, and mental retardation syndrome 9.9
5 cataract 9.9
6 hypoplastic left heart syndrome 9.9
7 periventricular nodular heterotopia 9.9
8 heart disease 9.9
9 epilepsy 9.9
10 tracheoesophageal fistula 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
clumsiness
intellectual disability
delayed psychomotor development
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
obsessive-compulsive disorder
autism spectrum disorder
attention deficit-hyperactivity disorder (adhd)

Head And Neck Ears:
dysmorphic ears

Abdomen Gastroin testinal:
poor feeding


Clinical features from OMIM:

615656

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 clumsiness 31 HP:0002312
4 hypertelorism 31 HP:0000316
5 intellectual disability 31 HP:0001249
6 global developmental delay 31 HP:0001263
7 delayed speech and language development 31 HP:0000750
8 cleft palate 31 HP:0000175
9 feeding difficulties 31 HP:0011968
10 attention deficit hyperactivity disorder 31 HP:0007018
11 broad forehead 31 HP:0000337
12 obsessive-compulsive behavior 31 HP:0000722
13 slender finger 31 HP:0001238
14 plagiocephaly 31 HP:0001357
15 autistic behavior 31 HP:0000729
16 generalized hypotonia 31 HP:0001290
17 abnormal heart morphology 31 HP:0001627
18 happy demeanor 31 HP:0040082

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


ataxia, seizures, clumsiness

Drugs & Therapeutics for Chromosome 15q11.2 Deletion Syndrome

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

Cochrane evidence based reviews: duplication 15q11-q13 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 28

Anatomical Context for Chromosome 15q11.2 Deletion Syndrome

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

38
Heart

Publications for Chromosome 15q11.2 Deletion Syndrome

Articles related to Chromosome 15q11.2 Deletion Syndrome:

# Title Authors Year
1
A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression. ( 25419638 )
2015
2
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? ( 26241618 )
2015
3
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. ( 25596525 )
2015
4
15q11.2 microdeletion and hypoplastic left heart syndrome. ( 26433000 )
2015
5
Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts. ( 23864968 )
2013
6
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. ( 22842191 )
2012
7
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems. ( 21187176 )
2011

Variations for Chromosome 15q11.2 Deletion Syndrome

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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