AS
MCID: ANG001
MIFTS: 67

Angelman Syndrome (AS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 56 12 74 24 52 25 53 58 73 36 29 13 54 6 43 15 39 71
As 56 52 25 73
Happy Puppet Syndrome 12 73
Happy Puppet Syndrome, Formerly 56
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
angelman syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant (loss of maternal allele)

Miscellaneous:
imprinted disorder
onset between 6 and 12 months of age
increased sensitivity to heat
incidence of 1 in 10,000 to 1 in 20,000
70% due to de novo maternal deletion of 15q11.2-q13
2% due to paternal uniparental disomy of 15q11.2-q13
2-3% due to imprinting defects
25% due to mutations in ube3a


HPO:

31
angelman syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance Inherited ube3a pathogenic variants, ic deletions, very small 15q11.2-q13 deletions that include ube3a [kuroda et al 2014] and certain chromosome translocations follow an imprinting (or inheritance) pattern in which an individual who inherits a paternally transmitted pathogenic variant is asymptomatic (see figure 3).

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Angelman Syndrome

Genetics Home Reference : 25 Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

MalaCards based summary : Angelman Syndrome, also known as as, is related to angelman syndrome due to imprinting defect in 15q11-q13 and christianson syndrome, and has symptoms including seizures, constipation and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Ion channel transport. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A chromosomal disease that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.

NIH Rare Diseases : 52 Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay , intellectual disability , severe speech impairment, problems with movement and balance (ataxia ), epilepsy , and a small head size . Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A . Most cases of Angelman syndrome are not inherited , although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures ; physical, occupational, and speech therapy; and special education services.

OMIM : 56 Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism. (105830)

NINDS : 53 Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.  Gastrointestinal, orthopedic, and eye problems also are often present.  Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months.  Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS.  Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.  The disorder results from the absence of the UBE3A gene inherited from the mother.  The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system. There are four types of Angelman syndrome involving problems with chromosomes or mutations in the UBE3A gene.  Other children may have a genetic syndrome that looks like AS but is caused by a different gene.  Dr. Harry Angelman first reported the syndrome in 1965, when he described three children in his practice with similar symptoms.

KEGG : 36 Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.

UniProtKB/Swiss-Prot : 73 Angelman syndrome: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue.

Wikipedia : 74 Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a... more...

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 10532)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 34.3 UBE3A SNRPN ATP10A
2 christianson syndrome 33.6 UBE3A SLC9A6 MECP2 CDKL5
3 prader-willi syndrome 32.9 UBE3A SNURF SNRPN SNORD115-1 SNHG14 NPAP1
4 kleefstra syndrome 32.3 UBE3A SLC9A6 MECP2 CDKL5
5 lubs x-linked mental retardation syndrome 32.0 UBE3A MECP2 CDKL5
6 early infantile epileptic encephalopathy 32.0 UBE3A SLC9A6 MECP2 GABRB3 GABRA5 CDKL5
7 childhood absence epilepsy 31.8 NIPA2 GABRB3 GABRA5 CDKL5
8 generalized epilepsy with febrile seizures plus 31.8 GABRB3 GABRA5 CDKL5
9 immunodeficiency-centromeric instability-facial anomalies syndrome 31.7 SNRPN MECP2 MBD4
10 mowat-wilson syndrome 31.7 UBE3A SLC9A6 MECP2 CDKL5
11 childhood disintegrative disease 31.5 MECP2 GABRB3
12 chromosome 15q13.3 deletion syndrome 31.5 UBE3A NPAP1 NIPA2
13 seizure disorder 31.5 MECP2 CDKL5
14 specific developmental disorder 31.4 UBE3A MECP2 CDKL5
15 autism spectrum disorder 31.1 UBE3A SNURF SNRPN SNHG14 PRKN NDN
16 lennox-gastaut syndrome 31.1 MECP2 GABRB3 GABRA5 CDKL5
17 rett syndrome 31.1 UBE3A PRKN MECP2 MBD4 GABRB3 CDKL5
18 west syndrome 31.0 SLC9A6 MECP2 GABRB3 CDKL5
19 autism 31.0 UBE3A SNURF SNRPN SNHG14 PRKN NDN
20 chromosome 15q11-q13 duplication syndrome 31.0 UBE3A ANCR
21 pitt-hopkins syndrome 30.7 UBE3A SLC9A6 MECP2 CDKL5
22 epileptic encephalopathy, early infantile, 6 30.7 UBE3A MECP2 GABRB3 GABRA5 CDKL5
23 bruxism 30.6 UBE3A MECP2 CDKL5
24 pervasive developmental disorder 30.3 UBE3A SNRPN SLC9A6 MECP2 MAGEL2 GABRB3
25 focal epilepsy 30.2 MECP2 GABRA5 CDKL5
26 gait apraxia 29.5 MECP2 CDKL5
27 atypical autism 29.3 MECP2 GABRB3
28 chromosomal disease 28.8 UBE3A SNRPN NPAP1 NIPA2 NDN MECP2
29 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.3
30 smoking as a quantitative trait locus 3 12.3
31 angelman syndrome due to maternal 15q11q13 deletion 12.2
32 angelman syndrome due to a point mutation 12.2
33 stature as a quantitative trait 12.2
34 smoking as a quantitative trait locus 1 12.1
35 smoking as a quantitative trait locus 2 12.1
36 genetic syndrome with a dandy-walker malformation as major feature 12.1
37 syndrome with a dandy-walker malformation as major feature 12.1
38 genetic syndrome with a central nervous system malformation as major feature 12.1
39 x-linked congenital disorder of glycosylation with intellectual disability as a major feature 12.1
40 congenital disorder of glycosylation with epilepsy as a major feature 12.1
41 non-x-linked congenital disorder of glycosylation with intellectual disability as a major feature 12.1
42 congenital disorder of glycosylation with cardiac malformation as a major feature 12.1
43 disease with diffuse palmoplantar keratoderma as a major feature 12.1
44 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.1
45 disease with focal palmoplantar keratoderma as a major feature 12.1
46 disease with punctate palmoplantar keratoderma as a major feature 12.1
47 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.1
48 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 12.1
49 congenital disorder of glycosylation with nephropathy as a major feature 12.1
50 congenital disorder of glycosylation with deafness as a major feature 12.1

Graphical network of the top 20 diseases related to Angelman Syndrome:



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Human phenotypes related to Angelman Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
6 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
7 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
8 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
9 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
11 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
12 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
13 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
14 blue irides 58 31 hallmark (90%) Very frequent (99-80%) HP:0000635
15 clumsiness 31 hallmark (90%) HP:0002312
16 broad-based gait 31 hallmark (90%) HP:0002136
17 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
18 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
19 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
20 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
21 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 obesity 31 HP:0001513
24 nystagmus 31 HP:0000639
25 intellectual disability 31 HP:0001249
26 constipation 31 HP:0002019
27 neurological speech impairment 58 Very frequent (99-80%)
28 scoliosis 31 HP:0002650
29 global developmental delay 31 HP:0001263
30 feeding difficulties in infancy 31 HP:0008872
31 hyperactivity 31 HP:0000752
32 generalized hypotonia 31 HP:0001290
33 myopia 31 HP:0000545
34 motor delay 31 HP:0001270
35 deeply set eye 31 HP:0000490
36 abnormality of the face 58 Very frequent (99-80%)
37 protruding tongue 31 HP:0010808
38 flat occiput 31 HP:0005469
39 truncal ataxia 31 HP:0002078
40 drooling 31 HP:0002307
41 progressive gait ataxia 31 HP:0007240
42 postnatal microcephaly 31 HP:0005484
43 hypopigmentation of the skin 31 HP:0001010
44 exotropia 31 HP:0000577
45 sleep-wake cycle disturbance 31 HP:0006979
46 paroxysmal bursts of laughter 31 HP:0000749
47 fair hair 31 HP:0002286
48 limb tremor 31 HP:0200085

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hyperreflexia
absent speech
developmental delay
hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
flat occiput
microcephaly, postnatal
occipital groove

Growth Weight:
obesity (older children)

Head And Neck Eyes:
strabismus, most frequently exotropia
ocular hypopigmentation
refractive errors (astigmatism, hyperopia, myopia)

Neurologic Behavioral Psychiatric Manifestations:
paroxysmal laughter
easily excitable
attraction to/fascination with water, crinkly items (paper, plastic)

Abdomen Gastrointestinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

Head And Neck Teeth:
widely spaced teeth

Head And Neck Mouth:
protruding tongue
macrostomia
excessive drooling

Head And Neck Face:
prognathia

Skin Nails Hair Skin:
hypopigmentation (seen only in deletion cases)

Clinical features from OMIM:

105830

UMLS symptoms related to Angelman Syndrome:


seizures, constipation, tremor, limb

MGI Mouse Phenotypes related to Angelman Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CDKL5 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4
2 no phenotypic analysis MP:0003012 9.17 CDKL5 GABRA5 GABRB3 MECP2 NDN PRKN

Drugs & Therapeutics for Angelman Syndrome

Drugs for Angelman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Carbidopa Approved Phase 2, Phase 3 28860-95-9 34359
3
Levodopa Approved Phase 2, Phase 3 59-92-7 6047
4
Topiramate Approved Phase 3 97240-79-4 5284627
5
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
6
Gaboxadol Investigational Phase 3 64603-91-4 3448
7 Dopamine Agents Phase 2, Phase 3
8 Carbidopa, levodopa drug combination Phase 2, Phase 3
9 Antiparkinson Agents Phase 2, Phase 3
10 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3
11 Dihydroxyphenylalanine Phase 2, Phase 3
12 Protective Agents Phase 3
13 Central Nervous System Depressants Phase 3
14 Antioxidants Phase 3
15 Neurotransmitter Agents Phase 3
16 Analgesics Phase 3
17 GABA Agonists Phase 3
18 GABA Agents Phase 3
19 Anticonvulsants Phase 3
20 Hypoglycemic Agents Phase 3
21
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
22 Anti-Bacterial Agents Phase 2
23 Anti-Infective Agents Phase 2
24 Immunologic Factors Phase 1
25 Dopamine agonists Phase 1
26 Adjuvants, Immunologic Phase 1
27
Polyestradiol phosphate Approved 28014-46-2
28
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
29
Tetracycline Approved, Vet_approved 60-54-8 5353990
30
Methylcobalamin Approved, Investigational 13422-55-4
31
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
32
Calcium Approved, Nutraceutical 7440-70-2 271
33
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
34
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
35
Betaine Approved, Nutraceutical 107-43-7 247
36
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
37
Cobalamin Experimental 13408-78-1 6857388
38 Estradiol 17 beta-cypionate
39 Estradiol 3-benzoate
40 Anti-Ulcer Agents
41 Antacids
42 Calcium, Dietary
43 Hypolipidemic Agents
44 Vitamin B 12
45 Gastrointestinal Agents
46 Vitamins
47 Vitamin B Complex
48 Vitamin B12
49 Vitamin B9
50 Folate

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Randomized Placebo-Controlled Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3 Levodopa;Placebo Oral Capsule
2 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase 3 Study to Evaluate the Efficacy and Safety of OV101 in Pediatric Individuals With Angelman Syndrome Recruiting NCT04106557 Phase 3 Gaboxadol;Placebo
4 Randomized, Placebo Controlled Double-blind Study of the Efficacy of Topiramate on the Symptoms of Irritability - Impulsivity, Overeating and Self-harm in a Population of Patients Suffering From Prader Willi Syndrome Over 8 Weeks Terminated NCT02810483 Phase 3 Topiramate;Placebo Comparator
5 Randomized Clinical Trial, Placebo Compared to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
6 A Phase 2 Adult and Adolescent Angelman Syndrome Clinical Trial: A Randomized, Double-Blind, Safety and Efficacy Study of Gaboxadol Completed NCT02996305 Phase 2 OV101 Regimen 1;OV101 regimen 2
7 An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome Recruiting NCT03882918 Phase 2 OV101
8 Cannabidivarin (CBDV) vs. Placebo in Children With Autism Spectrum Disorder (ASD) Recruiting NCT03202303 Phase 2 Cannabidivarin;Matched Placebo
9 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
10 A Phase 1 Single Dose PK Study in Adolescent Subjects With Fragile X Syndrome or Angelman Syndrome Completed NCT03109756 Phase 1 OV101
11 A Dose-escalation Tolerability Study of Levodopa/Carbidopa in Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
12 Open Label, Single Ascending Dose, Cross-over Study to Assess the Pharmacokinetics of Circadin® (Prolonged-Release Melatonin) Mini Tablets in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
13 Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data Unknown status NCT03358823
14 The Efficacy of Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 minocycline
15 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Levodopa
16 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
17 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
18 Assessment of the Risk of Imprinting Defects in Children Born Following Assisted Reproductive Technologies (ART) Completed NCT00773825
19 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
20 Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology) Completed NCT04155944
21 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
22 Biomarker Discovery In Children With Autism Plus Familial Autoimmune History Completed NCT01541033
23 Italian Angelman Syndrome Registry Protocol Recruiting NCT03650569
24 A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome Recruiting NCT04103333 Early Phase 1
25 Evaluation of the Safety and Tolerability of a Nutritional Formulation in Angelman Syndrome Recruiting NCT03644693
26 Characterization of Methylation Pattern in Human Oocytes of Women With the Desire to Have Children Undergoing Intracytoplasmic Sperm Injection Treatment Recruiting NCT03565107
27 Angelman Syndrome Natural History Study Active, not recruiting NCT00296764
28 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
29 Parent-child Interaction and Communication in Families Who Have a Child With Rett Syndrome or Angelman Syndrome Not yet recruiting NCT03720028

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 29 UBE3A

Anatomical Context for Angelman Syndrome

MalaCards organs/tissues related to Angelman Syndrome:

40
Brain, Eye, Skin, Tongue, Testes, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(show top 50) (show all 1472)
# Title Authors PMID Year
1
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 56 24 61 54 6
20034088 2010
2
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 61 24 54 6 56
8988172 1997
3
UBE3A/E6-AP mutations cause Angelman syndrome. 24 56 61 6
8988171 1997
4
Discordant phenotypes in first cousins with UBE3A frameshift mutation. 6 56 61 54
15150776 2004
5
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. 54 61 24 56
15470370 2004
6
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. 56 24 54 61
15385437 2004
7
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. 56 54 24 61
12210318 2002
8
Transmission of Angelman syndrome by an affected mother. 24 56 54 61
11258627 1999
9
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. 24 56 61
25470045 2015
10
Angelman syndrome in adulthood. 56 24 61
25428759 2015
11
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. 61 56 24
22190039 2011
12
Angelman syndrome: Mutations influence features in early childhood. 61 24 56
21204213 2011
13
Angelman syndrome caused by an identical familial 1,487-kb deletion. 56 24 61
17152063 2007
14
Angelman syndrome 2005: updated consensus for diagnostic criteria. 24 61 56
16470747 2006
15
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. 56 24 61
15805153 2005
16
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. 56 61 24
12668608 2003
17
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 61 24 56
11748306 2001
18
Disruption of the bipartite imprinting center in a family with Angelman syndrome. 56 24 61
11283796 2001
19
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. 24 56 61
10982040 2000
20
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 24 56 61
10861661 2000
21
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 56 24 61
10417280 1999
22
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. 56 24 61
9973277 1999
23
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. 24 56 61
9808466 1998
24
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 56 24 61
9634532 1998
25
Genetic counseling in Angelman syndrome: the challenges of multiple causes. 61 56 24
9557895 1998
26
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. 56 24 61
7684188 1993
27
Angelman syndrome. 61 56 24
1619637 1992
28
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. 56 24 61
1971993 1990
29
A Drosophila model for Angelman syndrome. 61 56 54
18701717 2008
30
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. 54 61 6
15054837 2004
31
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. 24 56
11896453 2002
32
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. 6 54 61
9792887 1998
33
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. 54 61 6
9600250 1998
34
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. 56 61 54
9546330 1998
35
The elusive Angelman syndrome critical region. 56 54 61
9321755 1997
36
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. 56 24
7795645 1995
37
Ophthalmic findings in Angelman syndrome. 61 56
21596294 2011
38
Angelman syndrome (AS, MIM 105830). 61 56
19455185 2009
39
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 61 54 24
19213023 2009
40
Mechanisms of imprinting of the Prader-Willi/Angelman region. 56 61
18627066 2008
41
Epilepsy in Angelman syndrome. 61 24 54
17904873 2008
42
Atypical cases of Angelman syndrome. 61 54 24
17036311 2006
43
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. 61 56
16401744 2006
44
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. 24 61 54
16100729 2005
45
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. 56 61
12549484 2003
46
Clinical, cytogenetical and molecular analyses of Angelman syndrome. 61 6
12725589 2003
47
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 61 56
12376950 2002
48
Intracytoplasmic sperm injection may increase the risk of imprinting defects. 56 61
12016591 2002
49
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 56 61
11977186 2002
50
Angelman syndrome: mimicking conditions and phenotypes. 56 61
11343340 2001

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 259) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBE3A UBE3A, 2-BP DEL, 1344GTdeletion Pathogenic 7965
2 UBE3A UBE3A, 5-BP DUPduplication Pathogenic 7963
3 UBE3A UBE3A, IVS9, A-G, -8SNV Pathogenic 7964
4 UBE3A NM_000462.5(UBE3A):c.1318C>T (p.Arg440Ter)SNV Pathogenic 7966 rs111033594 15:25616012-25616012 15:25370865-25370865
5 UBE3A NM_130838.3(UBE3A):c.2304G>A (p.Trp768Ter)SNV Pathogenic 7967 rs111033595 15:25585366-25585366 15:25340219-25340219
6 UBE3A NM_001354550.2(UBE3A):c.361+3667A>CSNV Pathogenic 7968 rs111033596 15:25616945-25616945 15:25371798-25371798
7 UBE3A NM_001354550.2(UBE3A):c.361+3740T>CSNV Pathogenic 7969 rs111033597 15:25616872-25616872 15:25371725-25371725
8 UBE3A UBE3A, 4-BP DEL, 3093AAGAdeletion Pathogenic 7970
9 UBE3A UBE3A, 2-BP DEL, 1930AGdeletion Pathogenic 7971
10 UBE3A UBE3A, 4-BP DUP, EX10, GAGGduplication Pathogenic 7972
11 MECP2 NM_004992.3(MECP2):c.167_168del (p.Pro56fs)deletion Pathogenic 11818 rs267608434 X:153297867-153297868 X:154032416-154032417
12 MECP2 NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)SNV Pathogenic 11824 rs28935468 X:153296363-153296363 X:154030912-154030912
13 MECP2 NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter)SNV Pathogenic 11833 rs61748396 X:153296856-153296856 X:154031405-154031405
14 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240indel Pathogenic 30204
15 UBE3A NM_000462.5(UBE3A):c.332_333del (p.Ile111fs)deletion Pathogenic 136189 rs587780567 15:25620649-25620650 15:25375502-25375503
16 UBE3A NM_000462.5(UBE3A):c.268_271dup (p.Gly91fs)duplication Pathogenic 136188 rs587780566 15:25620711-25620714 15:25375564-25375567
17 UBE3A NM_000462.5(UBE3A):c.344dup (p.Lys116fs)duplication Pathogenic 136190 rs587780568 15:25620638-25620638 15:25375491-25375491
18 UBE3A NM_000462.5(UBE3A):c.346_349del (p.Lys116fs)deletion Pathogenic 136191 rs587780569 15:25620633-25620636 15:25375486-25375489
19 UBE3A NM_001354550.2(UBE3A):c.361+3663_361+3666delshort repeat Pathogenic 136192 rs587780570 15:25616946-25616949 15:25371799-25371802
20 UBE3A NM_001354550.2(UBE3A):c.361+4716_361+4730deldeletion Pathogenic 136208 rs587780585 15:25615882-25615896 15:25370735-25370749
21 UBE3A NM_000462.5(UBE3A):c.1708_1711dup (p.Ser571fs)duplication Pathogenic 155958 rs587781207 15:25605581-25605584 15:25360434-25360437
22 UBE3A NM_130838.3(UBE3A):c.1730G>A (p.Trp577Ter)SNV Pathogenic 155959 rs587781208 15:25602007-25602007 15:25356860-25356860
23 UBE3A NM_000462.5(UBE3A):c.1677dup (p.Glu560Ter)duplication Pathogenic 155957 rs587781206 15:25605615-25605615 15:25360468-25360468
24 UBE3A NM_130838.3(UBE3A):c.750T>A (p.Tyr250Ter)SNV Pathogenic 155941 rs587781190 15:25616511-25616511 15:25371364-25371364
25 UBE3A NM_130838.3(UBE3A):c.961C>T (p.Gln321Ter)SNV Pathogenic 155942 rs587781191 15:25616300-25616300 15:25371153-25371153
26 UBE3A NM_001354550.2(UBE3A):c.361+4323_361+4329deldeletion Pathogenic 155943 rs587781192 15:25616283-25616289 15:25371136-25371142
27 UBE3A NM_001354550.2(UBE3A):c.361+4418dupduplication Pathogenic 155944 rs587781193 15:25616194-25616194 15:25371047-25371047
28 UBE3A NM_001354550.2(UBE3A):c.361+4425dupduplication Pathogenic 155945 rs587781194 15:25616185-25616185 15:25371038-25371038
29 UBE3A NM_130838.3(UBE3A):c.1114G>T (p.Glu372Ter)SNV Pathogenic 155946 rs587781195 15:25616147-25616147 15:25371000-25371000
30 UBE3A NM_130838.3(UBE3A):c.1201C>T (p.Arg401Ter)SNV Pathogenic 155947 rs587781196 15:25616060-25616060 15:25370913-25370913
31 UBE3A NM_130838.3(UBE3A):c.1270G>T (p.Glu424Ter)SNV Pathogenic 155948 rs587781197 15:25615991-25615991 15:25370844-25370844
32 UBE3A NM_001354550.2(UBE3A):c.361+4636G>TSNV Pathogenic 155949 rs587781198 15:25615976-25615976 15:25370829-25370829
33 UBE3A NM_001354550.2(UBE3A):c.361+4705dupduplication Pathogenic 155950 rs587781199 15:25615906-25615906 15:25370759-25370759
34 UBE3A NM_001354550.2(UBE3A):c.361+4712_361+4713deldeletion Pathogenic 155951 rs587781200 15:25615899-25615900 15:25370752-25370753
35 UBE3A NM_130838.3(UBE3A):c.1371T>A (p.Cys457Ter)SNV Pathogenic 155952 rs587781201 15:25615890-25615890 15:25370743-25370743
36 UBE3A NM_001354550.2(UBE3A):c.361+4738deldeletion Pathogenic 155953 rs587781202 15:25615874-25615874 15:25370727-25370727
37 UBE3A NM_001354550.2(UBE3A):c.361+4856_361+4857deldeletion Pathogenic 155954 rs587781203 15:25615755-25615756 15:25370608-25370609
38 UBE3A NM_001354550.2(UBE3A):c.361+4888dupduplication Pathogenic 155955 rs587781204 15:25615724-25615724 15:25370577-25370577
39 UBE3A NM_000462.5(UBE3A):c.1640dup (p.Asn547fs)duplication Pathogenic 155956 rs587781205 15:25605652-25605652 15:25360505-25360505
40 UBE3A NM_000462.5(UBE3A):c.1883_1893del (p.Ile628fs)deletion Pathogenic 155960 rs587781209 15:25601913-25601923 15:25356766-25356776
41 UBE3A NM_001354549.2(UBE3A):c.1899+647_1899+648delshort repeat Pathogenic 155961 rs587781210 15:25601190-25601191 15:25356043-25356044
42 subset of 23 genes: MAGEL2 , SNURF , UBE3A NC_000015.9:g.(?_23730704)_(28530182_?)deldeletion Pathogenic 209214 15:23730704-28530182
43 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs)deletion Pathogenic 95202 rs61750241 X:153296473-153296473 X:154031022-154031022
44 subset of 52 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)copy number loss Pathogenic 625711 15:20848750-32925141
45 subset of 29 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)copy number loss Pathogenic 625713 15:22770994-29050198
46 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)copy number loss Pathogenic 625716 15:23615768-28561671
47 subset of 24 genes: MAGEL2 , SNURF , UBE3A GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)copy number loss Pathogenic 625717 15:23683783-28530182
48 MECP2 NC_000023.10:g.(?_153287264)_(153363188_?)dupduplication Pathogenic 417368 X:153287264-153363188
49 UBE3A NM_001354550.2(UBE3A):c.361+4891deldeletion Pathogenic 568584 rs1566954070 15:25615721-25615721 15:25370574-25370574
50 UBE3A NC_000015.9:g.(?_25605510)_(25605694_?)deldeletion Pathogenic 583413 15:25605510-25605694 15:25360363-25360547

Copy number variations for Angelman Syndrome from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 89258 15 17000000 31400000 Deletion Angelman syndrome
2 89259 15 17000000 31400000 Deletion Angelman syndrome
3 89265 15 17000000 31400000 Deletion UBE3A Angelman syndrome
4 89266 15 17000000 31400000 Deletion UBE3A Angelman syndrome
5 89299 15 17000000 31400000 Microdeletion UBE3A Angelman syndrome
6 89300 15 17000000 37900000 Deletion NIPA1 Angelman syndrome
7 89301 15 17000000 42700000 Deletion NIPA2 Angelman syndrome
8 89409 15 18400000 23300000 Copy number Angelman syndrome
9 89561 15 18683000 27286000 Deletion Angelman syndrome
10 90908 15 25700000 31400000 Deletion UBE3A Angelman syndrome
11 257068 17 45401562 45406950 Deletion BP1 Angelman syndrome
12 257071 15 20444124 20555044 Deletion CYFIP1 Angelman syndrome
13 257072 15 20384835 20425332 Deletion GCP5 Angelman syndrome

Expression for Angelman Syndrome

Search GEO for disease gene expression data for Angelman Syndrome.

Pathways for Angelman Syndrome

Pathways related to Angelman Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

Pathways related to Angelman Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 RPS27A GABRB3 GABRA5 ATP10A
2 11.57 UBE3A PRKN HUWE1
3 10.19 GABRB3 GABRA5
4 9.7 RPS27A PRKN

GO Terms for Angelman Syndrome

Cellular components related to Angelman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor complex GO:1902711 8.62 GABRB3 GABRA5

Biological processes related to Angelman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuron apoptotic process GO:0043523 9.37 GABRB3 GABRA5
2 innervation GO:0060384 9.32 GABRB3 GABRA5
3 startle response GO:0001964 9.26 PRKN MECP2
4 inner ear receptor cell development GO:0060119 9.16 GABRB3 GABRA5
5 neuron development GO:0048666 9.13 NDN GABRB3 GABRA5
6 negative regulation of neuron apoptotic process GO:0043524 8.92 PRKN MECP2 GABRB3 GABRA5

Molecular functions related to Angelman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.26 UBE3A PRKN MAGEL2 HUWE1
2 GABA-A receptor activity GO:0004890 9.16 GABRB3 GABRA5
3 GABA-gated chloride ion channel activity GO:0022851 8.62 GABRB3 GABRA5

Sources for Angelman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....