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 57 12 29
15q11.2 Microdeletion Syndrome 12 53 59
15q11.2 Bp1-Bp2 Microdeletion Syndrome 53 59
Duplication 15q11-Q13 Syndrome 44 73
Monosomy 15q11.2 53 59
Del(15)(q11.2) 53 59
Deletion Syndrome, Chromosome 15q11.2 40
Chromosome 15q11.2 Microdeletion 53
Chromosome 15q11.2 Deletion 53
15q11.2 Microdeletion 53
Microdeletion 15q11.2 73

Characteristics:

Orphanet epidemiological data:

59
15q11.2 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 53 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 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, and related phenotypes are cleft palate and hypertelorism

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)

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:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
cleft palate

Head And Neck Head:
plagiocephaly

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
congenital heart defects

Skeletal Hands:
slender fingers

Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
clumsiness
delayed psychomotor development
more
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 Gastrointestinal:
poor feeding


Clinical features from OMIM:

615656

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 hypertelorism 32 HP:0000316
3 broad forehead 32 HP:0000337
4 obsessive-compulsive behavior 32 HP:0000722
5 autistic behavior 32 HP:0000729
6 delayed speech and language development 32 HP:0000750
7 slender finger 32 HP:0001238
8 intellectual disability 32 HP:0001249
9 seizures 32 HP:0001250
10 ataxia 32 HP:0001251
11 global developmental delay 32 HP:0001263
12 generalized hypotonia 32 HP:0001290
13 plagiocephaly 32 HP:0001357
14 abnormal heart morphology 32 HP:0001627
15 clumsiness 32 HP:0002312
16 attention deficit hyperactivity disorder 32 HP:0007018
17 feeding difficulties 32 HP:0011968
18 happy demeanor 32 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 29

Anatomical Context for Chromosome 15q11.2 Deletion Syndrome

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

41
Heart

Publications for Chromosome 15q11.2 Deletion Syndrome

Articles related to Chromosome 15q11.2 Deletion Syndrome:

# Title Authors Year
1
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? ( 26241618 )
2015
2
15q11.2 microdeletion and hypoplastic left heart syndrome. ( 26433000 )
2015
3
A 15q11.2 microdeletion first identified in a pair of autistic monozygotic twins with regression. ( 25419638 )
2015
4
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. ( 25596525 )
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
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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