MCID: CHR523
MIFTS: 27

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 58 12 30
15q11.2 Microdeletion Syndrome 12 54 60
15q11.2 Bp1-Bp2 Microdeletion Syndrome 54 60
Duplication 15q11-Q13 Syndrome 45 74
Monosomy 15q11.2 54 60
Del(15)(q11.2) 54 60
Deletion Syndrome, Chromosome 15q11.2 41
Chromosome 15q11.2 Microdeletion 54
Chromosome 15q11.2 Deletion 54
15q11.2 Microdeletion 54
Microdeletion 15q11.2 74

Characteristics:

Orphanet epidemiological data:

60
15q11.2 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 : 54 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 alkuraya-kucinskas syndrome, 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, and related phenotypes are hypertelorism and intellectual disability

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 : 58 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 11.3
2 alkuraya-kucinskas syndrome 10.3
3 autism 10.1
4 hypoplastic left heart syndrome 1 10.1
5 hypoplastic left heart syndrome 10.1
6 periventricular nodular heterotopia 10.1
7 heart disease 10.1
8 epilepsy 10.1
9 tracheoesophageal fistula 10.1

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 global developmental delay 33 HP:0001263
6 delayed speech and language development 33 HP:0000750
7 cleft palate 33 HP:0000175
8 feeding difficulties 33 HP:0011968
9 attention deficit hyperactivity disorder 33 HP:0007018
10 broad forehead 33 HP:0000337
11 obsessive-compulsive behavior 33 HP:0000722
12 clumsiness 33 HP:0002312
13 slender finger 33 HP:0001238
14 plagiocephaly 33 HP:0001357
15 generalized hypotonia 33 HP:0001290
16 autistic behavior 33 HP:0000729
17 abnormal heart morphology 33 HP:0001627
18 happy demeanor 33 HP:0040082

Symptoms via clinical synopsis from OMIM:

58
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

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

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 30

Anatomical Context for Chromosome 15q11.2 Deletion Syndrome

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

42
Heart

Publications for Chromosome 15q11.2 Deletion Syndrome

Articles related to Chromosome 15q11.2 Deletion Syndrome:

# Title Authors Year
1
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome? ( 24778887 )
2014

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 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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