AS
MCID: ANG001
MIFTS: 65

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 57 12 75 24 53 25 54 59 74 37 29 13 55 6 44 15 40 72
As 57 53 25 74
Happy Puppet Syndrome 12 74
Happy Puppet Syndrome, Formerly 57
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1932
OMIM 57 105830
KEGG 37 H01732
MeSH 44 D017204
NCIt 50 C75462
SNOMED-CT 68 76880004
ICD10 33 Q93.5
MESH via Orphanet 45 D017204
ICD10 via Orphanet 34 Q93.5
UMLS via Orphanet 73 C0162635
Orphanet 59 ORPHA72
MedGen 42 C0162635
UMLS 72 C0162635

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 Miscellaneous transport and binding events. The drugs Dopamine and Levodopa 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 : 53 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 : 57 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 : 54 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 : 37
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 : 74 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 : 75 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 10619)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 34.3 UBE3A SNRPN ATP10A
2 christianson syndrome 33.4 SLC9A6 CDKL5
3 childhood absence epilepsy 31.6 NIPA2 GABRB3 GABRA5
4 visual epilepsy 31.3 UBE3A MECP2 CDKL5
5 chromosome 15q13.3 deletion syndrome 31.0 UBE3A NPAP1
6 chromosome 15q11-q13 duplication syndrome 31.0 UBE3A ANCR
7 rett syndrome 30.6 UBE3A MECP2 MBD4 GABRB3 CDKL5
8 pervasive developmental disorder 30.5 UBE3A MECP2 GABRB3 CDKL5
9 autism spectrum disorder 30.4 UBE3A MECP2 MAGEL2 GABRB3
10 prader-willi syndrome 30.1 UBE3A SNURF SNRPN SNORD115-1 SNHG14 NPAP1
11 pitt-hopkins syndrome 30.0 SLC9A6 CDKL5
12 autism 29.7 UBE3A SNRPN NDN MECP2 MAGEL2 GABRB3
13 gait apraxia 29.4 MECP2 CDKL5
14 chromosomal disease 27.5 UBE3A SNURF SNRPN NDN MKRN3 MAGEL2
15 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.3
16 smoking as a quantitative trait locus 3 12.3
17 angelman syndrome due to maternal 15q11q13 deletion 12.2
18 angelman syndrome due to a point mutation 12.2
19 stature as a quantitative trait 12.2
20 smoking as a quantitative trait locus 1 12.1
21 smoking as a quantitative trait locus 2 12.1
22 genetic syndrome with a dandy-walker malformation as major feature 12.1
23 syndrome with a dandy-walker malformation as major feature 12.1
24 genetic syndrome with a central nervous system malformation as major feature 12.1
25 x-linked congenital disorder of glycosylation with intellectual disability as a major feature 12.1
26 congenital disorder of glycosylation with epilepsy as a major feature 12.1
27 non-x-linked congenital disorder of glycosylation with intellectual disability as a major feature 12.1
28 congenital disorder of glycosylation with cardiac malformation as a major feature 12.1
29 disease with diffuse palmoplantar keratoderma as a major feature 12.1
30 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.1
31 disease with focal palmoplantar keratoderma as a major feature 12.1
32 disease with punctate palmoplantar keratoderma as a major feature 12.1
33 autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 12.1
34 autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 12.1
35 congenital disorder of glycosylation with nephropathy as a major feature 12.1
36 congenital disorder of glycosylation with deafness as a major feature 12.1
37 autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 12.1
38 autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 12.1
39 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 12.1
40 chromosomal anomaly with epilepsy as a major feature 12.0
41 syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.0
42 syndrome with pulmonary hypertension as a major feature 12.0
43 genetic syndrome with a cerebellar malformation as major feature 12.0
44 genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 12.0
45 other syndrome with a central nervous system malformation as major feature 12.0
46 syndrome with microcephaly as major feature 12.0
47 syndrome with a cerebellar malformation as major feature 12.0
48 rare disease with cushing syndrome as a major feature 12.0
49 dysostosis with limb and face anomalies as a major feature 12.0
50 dysostosis with limb anomaly as a major feature 12.0

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:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
6 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
7 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
11 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
12 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
13 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
14 blue irides 59 32 hallmark (90%) Very frequent (99-80%) HP:0000635
15 clumsiness 32 hallmark (90%) HP:0002312
16 broad-based gait 32 hallmark (90%) HP:0002136
17 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
18 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
19 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
20 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
21 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
22 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
23 obesity 32 HP:0001513
24 nystagmus 32 HP:0000639
25 intellectual disability 32 HP:0001249
26 constipation 32 HP:0002019
27 neurological speech impairment 59 Very frequent (99-80%)
28 scoliosis 32 HP:0002650
29 global developmental delay 32 HP:0001263
30 feeding difficulties in infancy 32 HP:0008872
31 hyperactivity 32 HP:0000752
32 generalized hypotonia 32 HP:0001290
33 myopia 32 HP:0000545
34 motor delay 32 HP:0001270
35 deeply set eye 32 HP:0000490
36 abnormality of the face 59 Very frequent (99-80%)
37 protruding tongue 32 HP:0010808
38 flat occiput 32 HP:0005469
39 truncal ataxia 32 HP:0002078
40 progressive gait ataxia 32 HP:0007240
41 postnatal microcephaly 32 HP:0005484
42 drooling 32 HP:0002307
43 hypopigmentation of the skin 32 HP:0001010
44 exotropia 32 HP:0000577
45 sleep-wake cycle disturbance 32 HP:0006979
46 paroxysmal bursts of laughter 32 HP:0000749
47 fair hair 32 HP:0002286
48 limb tremor 32 HP:0200085

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 CDKL5 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4

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

Interventional clinical trials:

(show all 25)
# 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 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
4 Randomized Clinical Trial, Placebo Compared to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
5 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
6 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
7 An Exploratory Open-Label Phase 2 Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
8 A Phase 1 Single Dose PK Study in Adolescent Subjects With Fragile X Syndrome or Angelman Syndrome Completed NCT03109756 Phase 1 OV101
9 A Dose-escalation Tolerability Study of Levodopa/Carbidopa in Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
10 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
11 The Efficacy of Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 minocycline
12 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Levodopa
13 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
14 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
15 Assessment of the Risk of Imprinting Defects in Children Born Following Assisted Reproductive Technologies (ART) Completed NCT00773825
16 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
17 Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-controlled Trial Completed NCT01147575
18 Biomarker Discovery In Children With Autism Plus Familial Autoimmune History Completed NCT01541033
19 Italian Angelman Syndrome Registry Protocol Recruiting NCT03650569
20 Evaluation of the Safety and Tolerability of a Nutritional Formulation in Angelman Syndrome Recruiting NCT03644693
21 Characterization of Methylation Pattern in Human Oocytes of Women With the Desire to Have Children Undergoing Intracytoplasmic Sperm Injection Treatment Recruiting NCT03565107
22 Angelman Syndrome Natural History Study Active, not recruiting NCT00296764
23 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
24 Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data Enrolling by invitation NCT03358823
25 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:

41
Brain, Eye, Skin, Tongue, Testes, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(show top 50) (show all 1451)
# Title Authors PMID Year
1
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 9 38 4 8 71
20034088 2010
2
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 9 38 4 8 71
8988172 1997
3
UBE3A/E6-AP mutations cause Angelman syndrome. 38 4 8 71
8988171 1997
4
Discordant phenotypes in first cousins with UBE3A frameshift mutation. 9 38 8 71
15150776 2004
5
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. 9 38 4 8
15470370 2004
6
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. 9 38 4 8
15385437 2004
7
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. 9 38 4 8
12210318 2002
8
Transmission of Angelman syndrome by an affected mother. 9 38 4 8
11258627 1999
9
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. 38 4 8
25470045 2015
10
Angelman syndrome in adulthood. 38 4 8
25428759 2015
11
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. 38 4 8
22190039 2011
12
Angelman syndrome: Mutations influence features in early childhood. 38 4 8
21204213 2011
13
Angelman syndrome caused by an identical familial 1,487-kb deletion. 38 4 8
17152063 2007
14
Angelman syndrome 2005: updated consensus for diagnostic criteria. 38 4 8
16470747 2006
15
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. 38 4 8
15805153 2005
16
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. 38 4 8
12668608 2003
17
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 38 4 8
11748306 2001
18
Disruption of the bipartite imprinting center in a family with Angelman syndrome. 38 4 8
11283796 2001
19
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. 38 4 8
10982040 2000
20
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 38 4 8
10861661 2000
21
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 38 4 8
10417280 1999
22
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. 38 4 8
9973277 1999
23
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. 38 4 8
9808466 1998
24
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 38 4 8
9634532 1998
25
Genetic counseling in Angelman syndrome: the challenges of multiple causes. 38 4 8
9557895 1998
26
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. 38 4 8
7684188 1993
27
Angelman syndrome. 38 4 8
1619637 1992
28
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. 38 4 8
1971993 1990
29
A Drosophila model for Angelman syndrome. 9 38 8
18701717 2008
30
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. 9 38 71
15054837 2004
31
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. 4 8
11896453 2002
32
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. 9 38 71
9792887 1998
33
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. 9 38 71
9600250 1998
34
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. 9 38 8
9546330 1998
35
The elusive Angelman syndrome critical region. 9 38 8
9321755 1997
36
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. 4 8
7795645 1995
37
Ophthalmic findings in Angelman syndrome. 38 8
21596294 2011
38
Angelman syndrome (AS, MIM 105830). 38 8
19455185 2009
39
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 9 38 4
19213023 2009
40
Mechanisms of imprinting of the Prader-Willi/Angelman region. 38 8
18627066 2008
41
Epilepsy in Angelman syndrome. 9 38 4
17904873 2008
42
Atypical cases of Angelman syndrome. 9 38 4
17036311 2006
43
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. 38 8
16401744 2006
44
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. 9 38 4
16100729 2005
45
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. 38 8
12549484 2003
46
Clinical, cytogenetical and molecular analyses of Angelman syndrome. 38 71
12725589 2003
47
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 38 8
12376950 2002
48
Intracytoplasmic sperm injection may increase the risk of imprinting defects. 38 8
12016591 2002
49
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 38 8
11977186 2002
50
Angelman syndrome: mimicking conditions and phenotypes. 38 8
11343340 2001

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 258)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UBE3A UBE3A, 5-BP DUP duplication Pathogenic
2 UBE3A UBE3A, IVS9, A-G, -8 single nucleotide variant Pathogenic
3 UBE3A UBE3A, 2-BP DEL, 1344GT deletion Pathogenic
4 UBE3A NM_130838.3(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 15:25616012-25616012 15:25370865-25370865
5 UBE3A NM_130838.3(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 15:25585366-25585366 15:25340219-25340219
6 UBE3A NM_130838.3(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 15:25616945-25616945 15:25371798-25371798
7 UBE3A NM_130838.3(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 15:25616872-25616872 15:25371725-25371725
8 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
9 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
10 UBE3A UBE3A, 4-BP DUP, EX10, GAGG duplication Pathogenic
11 MECP2 NM_004992.3(MECP2): c.167_168del (p.Pro56fs) deletion Pathogenic rs267608434 X:153297867-153297868 X:154032416-154032417
12 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 X:153296363-153296363 X:154030912-154030912
13 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 X:153296856-153296856 X:154031405-154031405
14 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
15 UBE3A NM_130838.3(UBE3A): c.2475_2491del (p.Leu826fs) deletion Pathogenic rs1064792950 15:25584352-25584368 15:25339205-25339221
16 MECP2 NC_000023.10: g.(?_153287264)_(153363188_?)dup duplication Pathogenic X:153287264-153363188 :0-0
17 UBE3A NM_130838.3(UBE3A): c.1639_1642dup (p.Ser548fs) duplication Pathogenic rs587781207 15:25605581-25605584 15:25360434-25360437
18 UBE3A NM_130838.3(UBE3A): c.1730G> A (p.Trp577Ter) single nucleotide variant Pathogenic rs587781208 15:25602007-25602007 15:25356860-25356860
19 subset of 23 genes:MAGEL2 ; SNURF ; UBE3A NC_000015.9: g.(?_23730704)_(28530182_?)del deletion Pathogenic 15:23730704-28530182 :0-0
20 UBE3A NM_130838.3(UBE3A): c.2547dup (p.Gly850fs) duplication Pathogenic rs797046088 15:25584296-25584296 15:25339149-25339149
21 UBE3A NM_130838.3(UBE3A): c.1811_1812del (p.Cys604fs) deletion Pathogenic rs864309508 15:25601925-25601926 15:25356778-25356779
22 UBE3A NM_130838.3(UBE3A): c.59G> T (p.Gly20Val) single nucleotide variant Pathogenic rs864309506 15:25620854-25620854 15:25375707-25375707
23 subset of 52 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.3(chr15: 20848750-32925141) copy number loss Pathogenic 15:20848750-32925141 :0-0
24 subset of 29 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22770994-29050198) copy number loss Pathogenic 15:22770994-29050198 :0-0
25 subset of 24 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23615768-28561671) copy number loss Pathogenic 15:23615768-28561671 :0-0
26 subset of 24 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23683783-28530182) copy number loss Pathogenic 15:23683783-28530182 :0-0
27 subset of 28 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22816713-28530182) copy number loss Pathogenic 15:22816713-28530182 :0-0
28 subset of 28 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 22816713-28530182) copy number gain Pathogenic 15:22816713-28530182 :0-0
29 UBE3A NM_130838.3(UBE3A): c.1262del (p.Ile421fs) deletion Pathogenic 15:25615999-25615999 15:25370852-25370852
30 UBE3A NM_130838.3(UBE3A): c.2364_2365CA[1] (p.Thr789fs) short repeat Pathogenic 15:25585303-25585304 15:25340156-25340157
31 UBE3A NC_000015.9: g.(?_25605510)_(25605694_?)del deletion Pathogenic 15:25605510-25605694 15:25360363-25360547
32 UBE3A NC_000015.9: g.(?_25599480)_(25605694_?)del deletion Pathogenic 15:25599480-25605694 15:25354333-25360547
33 UBE3A NC_000015.9: g.(?_25620592)_(25620930_?)del deletion Pathogenic 15:25620592-25620930 15:25375445-25375783
34 UBE3A NM_130838.3(UBE3A): c.1540del (p.Val515fs) deletion Pathogenic 15:25615721-25615721 15:25370574-25370574
35 subset of 101 genes:SNURF ; UBE3A NC_000015.9: g.(?_24811185)_(26026370_?)del deletion Pathogenic 15:24811185-26026370 15:24566038-25781223
36 UBE3A NM_130838.1(UBE3A): c.-44_*1888del deletion Pathogenic 15:25582396-25650653 15:25337249-25405506
37 UBE3A NM_130838.3(UBE3A): c.2+1_2+2insAA insertion Pathogenic rs797046084 15:25650606-25650607 15:25405459-25405460
38 UBE3A NM_130838.3(UBE3A): c.2178dup (p.Phe727fs) duplication Pathogenic rs797046085 15:25599717-25599717 15:25354570-25354570
39 UBE3A NM_130838.3(UBE3A): c.2337_2340dup (p.Leu781fs) duplication Pathogenic rs797046086 15:25585330-25585333 15:25340183-25340186
40 UBE3A NM_130838.3(UBE3A): c.2502dup (p.Leu835fs) duplication Pathogenic rs797046087 15:25584341-25584341 15:25339194-25339194
41 UBE3A NM_130838.3(UBE3A): c.2463_2506dup (p.Lys836fs) duplication Pathogenic rs587781230 15:25584337-25584380 15:25339190-25339233
42 UBE3A NM_130838.3(UBE3A): c.2503_2507dup (p.Lys836fs) duplication Pathogenic rs1555379800 15:25584336-25584340 15:25339189-25339193
43 UBE3A NM_130838.3(UBE3A): c.1184_1193dup (p.Gly399fs) duplication Pathogenic rs886041603 15:25616068-25616077 15:25370921-25370930
44 UBE3A NM_130838.3(UBE3A): c.1407_1411ATTAT[1] (p.Leu470_Tyr471insTer) short repeat Pathogenic rs863225068 15:25615845-25615849 15:25370698-25370702
45 MECP2 NM_004992.3(MECP2): c.1159_1210del (p.Pro387fs) deletion Pathogenic rs1557135251 X:153296069-153296120 X:154030618-154030669
46 UBE3A NM_130838.3(UBE3A): c.317_321del (p.Thr106fs) deletion Pathogenic rs587784529 15:25616940-25616944 15:25371793-25371797
47 UBE3A NM_130838.3(UBE3A): c.380del (p.Ile127fs) deletion Pathogenic rs587784530 15:25616881-25616881 15:25371734-25371734
48 UBE3A NM_130838.3(UBE3A): c.505_511del (p.Glu169fs) deletion Pathogenic rs587784532 15:25616750-25616756 15:25371603-25371609
49 UBE3A NM_130838.3(UBE3A): c.829G> T (p.Glu277Ter) single nucleotide variant Pathogenic rs587784533 15:25616432-25616432 15:25371285-25371285
50 UBE3A NM_130838.3(UBE3A): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs587784534 15:25616297-25616297 15:25371150-25371150

Copy number variations for Angelman Syndrome from CNVD:

7 (show all 13)
# CNVD ID Chromosom 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:

37
# 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 10.23 NIPA2 NIPA1
2 9.85 GABRB3 GABRA5

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 8.96 GABRB3 GABRA5
2 early endosome GO:0005769 8.92 SLC9A6 NIPA2 NIPA1 MAGEL2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 SLC9A6 NIPA2 NIPA1 GABRB3 GABRA5
2 negative regulation of neuron apoptotic process GO:0043524 9.61 MECP2 GABRB3 GABRA5
3 cochlea development GO:0090102 9.49 GABRB3 GABRA5
4 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 GABRB3 GABRA5
5 axon extension GO:0048675 9.46 SLC9A6 NDN
6 regulation of neuron apoptotic process GO:0043523 9.4 GABRB3 GABRA5
7 innervation GO:0060384 9.37 GABRB3 GABRA5
8 magnesium ion transmembrane transport GO:1903830 9.26 NIPA2 NIPA1
9 magnesium ion transport GO:0015693 9.16 NIPA2 NIPA1
10 inner ear receptor cell development GO:0060119 8.96 GABRB3 GABRA5
11 neuron development GO:0048666 8.8 NDN GABRB3 GABRA5

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

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor activity GO:0004890 9.16 GABRB3 GABRA5
2 magnesium ion transmembrane transporter activity GO:0015095 8.96 NIPA2 NIPA1
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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