MCID: CHR523
MIFTS: 25

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 54 12 29
15q11.2 Microdeletion Syndrome 12 50 56
Duplication 15q11-Q13 Syndrome 42 69
Monosomy 15q11.2 50 56
Del(15)(q11.2) 50 56
Chromosome 15q11.2 Microdeletion 50
Chromosome 15q11.2 Deletion 50
15q11.2 Microdeletion 50
Microdeletion 15q11.2 69

Characteristics:

Orphanet epidemiological data:

56
15q11.2 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable phenotype
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 : 50 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 cataract, and has symptoms including ataxia, seizures and hypertelorism. An important gene associated with Chromosome 15q11.2 Deletion Syndrome is DEL15Q11.2 (Chromosome 15q11.2 Deletion Syndrome). Affiliated tissues include heart.

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 chromosome 15q11-q13 duplication syndrome 11.0
2 cataract 9.9
3 hypoplastic left heart syndrome 9.9
4 heart disease 9.9
5 epilepsy 9.9
6 tracheoesophageal fistula 9.9
7 intellectual disability 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:

54

Muscle Soft Tissue:
hypotonia

Neurologic- Central Nervous System:
delayed psychomotor development
speech delay
ataxia
seizures
intellectual disability
more
Head And Neck- Eyes:
hypertelorism

Head And Neck- Face:
broad forehead

Head And Neck- Head:
plagiocephaly

Skeletal- Hands:
slender fingers

Cardiovascular- Heart:
congenital heart defects

Abdomen- Gastroin testinal:
poor feeding

Head And Neck- Mouth:
cleft palate

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

Head And Neck- Ears:
dysmorphic ears


Clinical features from OMIM:

615656

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

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 hypertelorism 32 HP:0000316
4 cleft palate 32 HP:0000175
5 global developmental delay 32 HP:0001263
6 broad forehead 32 HP:0000337
7 intellectual disability 32 HP:0001249
8 feeding difficulties 32 HP:0011968
9 plagiocephaly 32 HP:0001357
10 happy demeanor 32 HP:0040082
11 muscular hypotonia 32 HP:0001252
12 obsessive-compulsive behavior 32 HP:0000722
13 autistic behavior 32 HP:0000729
14 clumsiness 32 HP:0002312
15 delayed speech and language development 32 HP:0000750
16 attention deficit hyperactivity disorder 32 HP:0007018
17 slender finger 32 HP:0001238
18 abnormal heart morphology 32 HP:0001627

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:

id 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:

39
Heart

Publications for Chromosome 15q11.2 Deletion Syndrome

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
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
47 NCIt
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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