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AS
MCID: ANG001
MIFTS: 64

Angelman Syndrome (AS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Angelman Syndrome

About this section

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 57 12 73 25 20 43 53 58 72 36 29 13 54 6 44 15 70
As 57 20 43 72
Happy Puppet Syndrome 12 72
Happy Puppet Syndrome, Formerly 57
Puppetlike Syndrome 12
Syndrome, Angelman 39

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®:

57 (Updated 20-May-2021)
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:

25
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Angelman Syndrome

About this section
MedlinePlus Genetics : 43 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 christianson syndrome and prader-willi 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 Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and eye, and related phenotypes are eeg abnormality and ataxia

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

GARD : 20 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) (Updated 20-May-2021)

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 : 72 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 : 73 Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous... more...

GeneReviews: NBK1144
Sources

Related Diseases for Angelman Syndrome

About this section

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 225)
# Related Disease Score Top Affiliating Genes
1 christianson syndrome 32.6 UBE3A SLC9A6 MECP2 CDKL5
2 prader-willi syndrome 32.6 UBE3A SNURF SNRPN SNORD115-1 SNHG14 NPAP1
3 angelman syndrome due to imprinting defect in 15q11-q13 32.4 UBE3A SNRPN ATP10A
4 alacrima, achalasia, and mental retardation syndrome 31.9 UBE3A SNHG14 SLC9A6 MECP2 HUWE1 GABRB3
5 seizure disorder 31.6 UBE3A SNHG14 MECP2 CDKL5
6 autism spectrum disorder 31.4 UBE3A SNURF SNRPN SNHG14 PRKN NDN
7 autism 31.2 UBE3A SNURF SNRPN SNHG14 SLC9A6 PRKN
8 lennox-gastaut syndrome 31.0 MECP2 GABRG3 GABRB3 GABRA5 CDKL5
9 rett syndrome 31.0 UBE3A PRKN MECP2 MBD4 GABRB3 CDKL5
10 fragile x syndrome 30.9 UBE3A NIPA1 MECP2 GABRB3 CDKL5
11 focal epilepsy 30.6 MECP2 GABRA5 CDKL5
12 pitt-hopkins syndrome 30.6 UBE3A SLC9A6 MECP2 CDKL5
13 pervasive developmental disorder 30.5 UBE3A MECP2 GABRG3 GABRB3 GABRA5 CDKL5
14 chromosome 15q11-q13 duplication syndrome 30.5 UBE3A ANCR
15 childhood absence epilepsy 30.5 NIPA1 GABRG3 GABRB3 GABRA5 CDKL5
16 dravet syndrome 30.3 MECP2 GABRB3 CDKL5
17 mbd5 haploinsufficiency 11.2
18 angelman syndrome due to maternal 15q11q13 deletion 11.2
19 angelman syndrome due to paternal uniparental disomy of chromosome 15 11.0
20 mental retardation, x-linked, syndromic, christianson type 11.0
21 angelman syndrome due to a point mutation 11.0
22 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 11.0
23 partial deletion of the long arm of chromosome 15 11.0
24 ataxia and polyneuropathy, adult-onset 10.8
25 paternal uniparental disomy 10.7
26 microcephaly 10.7
27 mowat-wilson syndrome 10.6 UBE3A SLC9A6 MECP2 CDKL5
28 childhood disintegrative disease 10.6 UBE3A MECP2 GABRB3
29 gene duplication disease 10.6 UBE3A MECP2 CDKL5
30 congenital nervous system abnormality 10.6 UBE3A SLC9A6 MECP2 CDKL5
31 early infantile epileptic encephalopathy 10.6 UBE3A SLC9A6 MECP2 GABRB3 GABRA5 CDKL5
32 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.6
33 epilepsy with generalized tonic-clonic seizures 10.6 SLC9A6 GABRB3 CDKL5
34 infancy electroclinical syndrome 10.5 MECP2 GABRB3 CDKL5
35 neonatal period electroclinical syndrome 10.5 MECP2 GABRB3 CDKL5
36 lubs x-linked mental retardation syndrome 10.5 UBE3A MECP2 CDKL5
37 gait apraxia 10.5 MECP2 CDKL5
38 hypotonia 10.5
39 syndromic x-linked intellectual disability 10.5 SLC9A6 MECP2 HUWE1
40 early myoclonic encephalopathy 10.5 MECP2 GABRB3 CDKL5
41 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 10.5 SNRPN NDN MAGEL2
42 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 10.5 SNRPN NDN MAGEL2
43 chromosomal disease 10.5 UBE3A SNRPN NPAP1 NDN MECP2 MAGEL2
44 schaaf-yang syndrome 10.5 SNRPN NPAP1 NDN MAGEL2
45 asperger syndrome 10.5 MECP2 GABRG3 GABRB3
46 chromosome 15q13.3 deletion syndrome 10.5 UBE3A NPAP1 MAGEL2
47 developmental and epileptic encephalopathy 14 10.5 MECP2 CDKL5
48 epilepsy 10.5
49 sleep disorder 10.5
50 esotropia 10.4 SNRPN SLC9A6 MAGEL2

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



Diseases related to Angelman Syndrome
Sources

Symptoms & Phenotypes for Angelman Syndrome

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Human phenotypes related to Angelman Syndrome:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
5 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
8 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
9 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
10 blue irides 58 31 hallmark (90%) Very frequent (99-80%) HP:0000635
11 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
12 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
13 broad-based gait 31 hallmark (90%) HP:0002136
14 clumsiness 31 hallmark (90%) HP:0002312
15 seizure 31 hallmark (90%) HP:0001250
16 hypotonia 31 hallmark (90%) HP:0001252
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 intellectual disability 31 HP:0001249
24 seizures 58 Very frequent (99-80%)
25 neurological speech impairment 58 Very frequent (99-80%)
26 scoliosis 31 HP:0002650
27 nystagmus 31 HP:0000639
28 constipation 31 HP:0002019
29 muscular hypotonia 58 Very frequent (99-80%)
30 global developmental delay 31 HP:0001263
31 feeding difficulties in infancy 31 HP:0008872
32 obesity 31 HP:0001513
33 myopia 31 HP:0000545
34 motor delay 31 HP:0001270
35 abnormality of the face 58 Very frequent (99-80%)
36 protruding tongue 31 HP:0010808
37 deeply set eye 31 HP:0000490
38 flat occiput 31 HP:0005469
39 hypopigmentation of the skin 31 HP:0001010
40 postnatal microcephaly 31 HP:0005484
41 hyperactivity 31 HP:0000752
42 generalized hypotonia 31 HP:0001290
43 progressive gait ataxia 31 HP:0007240
44 exotropia 31 HP:0000577
45 drooling 31 HP:0002307
46 truncal ataxia 31 HP:0002078
47 fair hair 31 HP:0002286
48 paroxysmal bursts of laughter 31 HP:0000749
49 sleep-wake cycle disturbance 31 HP:0006979
50 limb tremor 31 HP:0200085

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
absent speech
hypotonia
developmental delay
more
Abdomen Gastrointestinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

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)

Skeletal Spine:
scoliosis

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 (Updated 20-May-2021)

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 9.7 CDKL5 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4
2 no phenotypic analysis MP:0003012 9.17 CDKL5 GABRA5 GABRB3 MECP2 NDN PRKN
Sources

Drugs & Therapeutics for Angelman Syndrome

About this section

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

(show all 47)
# 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
Gaboxadol Investigational Phase 3 64603-91-4 3448
5 Dopamine Agents Phase 2, Phase 3
6 Dihydroxyphenylalanine Phase 2, Phase 3
7 Antiparkinson Agents Phase 2, Phase 3
8 Carbidopa, levodopa drug combination Phase 2, Phase 3
9 Neurotransmitter Agents Phase 2, Phase 3
10 GABA Agonists Phase 3
11 Anticonvulsants Phase 3
12 Analgesics Phase 3
13
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
14 Anti-Bacterial Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1
17
Tetracycline Approved, Vet_approved 60-54-8 5353990
18
Polyestradiol phosphate Approved 28014-46-2
19
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
20
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
21
Methylcobalamin Approved, Investigational 13422-55-4
22
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
23
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
24
Betaine Approved, Nutraceutical 107-43-7, 6915-17-9 248
25
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
26
Cobalamin Experimental 13408-78-1 6857388
27 Antacids
28 Anti-Ulcer Agents
29 Calcium, Dietary
30 Estradiol 3-benzoate
31 Estradiol 17 beta-cypionate
32 Vitamins
33 Lipid Regulating Agents
34 Micronutrients
35 Antimetabolites
36 Trace Elements
37 Vitamin B9
38 Nutrients
39 Vitamin B Complex
40 Folate
41 Vitamin B12
42 Gastrointestinal Agents
43 Vitamin B 12
44 Hematinics
45 Hypolipidemic Agents
46 Anesthetics Early Phase 1
47
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 23)
# 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 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 Completed NCT04106557 Phase 3 Gaboxadol;Placebo
3 An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome Unknown status NCT03882918 Phase 2 OV101
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 A Phase 1/2 Open-label, Multiple-dose, Dose-escalating Clinical Trial of the Safety and Tolerability of GTX-102 in Pediatric Patients With Angelman Syndrome (AS) Active, not recruiting NCT04259281 Phase 1, Phase 2 GTX-102
7 A Dose-escalation Tolerability Study of Levodopa/Carbidopa in Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
8 A Phase 1 Single Dose PK Study in Adolescent Subjects With Fragile X Syndrome or Angelman Syndrome Completed NCT03109756 Phase 1 OV101
9 An Open-Label, Multicenter Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome Recruiting NCT04428281 Phase 1 RO7248824
10 The Efficacy of Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 minocycline
11 Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data Unknown status NCT03358823
12 Evaluation of the Safety and Tolerability of a Nutritional Formulation in Angelman Syndrome Completed NCT03644693
13 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
14 Angelman Syndrome Natural History Study Completed NCT00296764
15 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Levodopa
16 Parent-child Interaction and Communication in Families Who Have a Child With Rett Syndrome or Angelman Syndrome Completed NCT03720028
17 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
18 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
19 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
20 Angelman Syndrome Natural History Study Recruiting NCT04507997
21 A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome Recruiting NCT04103333 Early Phase 1
22 Italian Angelman Syndrome Registry Protocol Active, not recruiting NCT03650569
23 Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity Not yet recruiting NCT04768803

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Sources

Genetic Tests for Angelman Syndrome

About this section

Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 29 SNRPN UBE3A
Sources

Anatomical Context for Angelman Syndrome

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MalaCards organs/tissues related to Angelman Syndrome:

40
Brain, Tongue, Eye, Cortex, Heart, Kidney, Cerebellum
Sources

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50) (show all 1579)
# Title Authors PMID Year
1
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 61 54 6 25 57
20034088 2010
2
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. 57 6 25 54 61
12210318 2002
3
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 25 57 61 6 54
8988172 1997
4
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 6 61 57 25
11748306 2001
5
UBE3A/E6-AP mutations cause Angelman syndrome. 61 57 25 6
8988171 1997
6
Discordant phenotypes in first cousins with UBE3A frameshift mutation. 54 61 6 57
15150776 2004
7
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 61 25 6 54
19213023 2009
8
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. 61 54 57 25
15470370 2004
9
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. 25 57 61 54
15385437 2004
10
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 61 25 6 54
11283202 2001
11
Transmission of Angelman syndrome by an affected mother. 61 25 54 57
11258627 1999
12
The spectrum of mutations in UBE3A causing Angelman syndrome. 54 61 25 6
9887341 1999
13
Mutation analysis of UBE3A in Angelman syndrome patients. 6 54 61 25
9585605 1998
14
Angelman syndrome in adulthood. 61 25 57
25428759 2015
15
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. 61 57 25
25470045 2015
16
Mutation Update for UBE3A variants in Angelman syndrome. 25 6 61
25212744 2014
17
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. 61 6 25
25099823 2014
18
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. 57 25 61
22190039 2011
19
Angelman syndrome: Mutations influence features in early childhood. 25 57 61
21204213 2011
20
Angelman syndrome caused by an identical familial 1,487-kb deletion. 57 25 61
17152063 2007
21
Angelman syndrome 2005: updated consensus for diagnostic criteria. 57 25 61
16470747 2006
22
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. 25 61 57
15805153 2005
23
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. 25 57 61
12668608 2003
24
Disruption of the bipartite imprinting center in a family with Angelman syndrome. 57 25 61
11283796 2001
25
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. 57 25 61
10982040 2000
26
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. 61 57 25
10861661 2000
27
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 57 25 61
10417280 1999
28
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. 61 25 57
9973277 1999
29
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. 57 25 61
9808466 1998
30
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 25 57 61
9634532 1998
31
Genetic counseling in Angelman syndrome: the challenges of multiple causes. 61 25 57
9557895 1998
32
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. 25 57 61
7684188 1993
33
Angelman syndrome. 61 57 25
1619637 1992
34
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. 25 57 61
1971993 1990
35
A Drosophila model for Angelman syndrome. 57 61 54
18701717 2008
36
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. 54 6 61
15054837 2004
37
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. 6 61 54
14981718 2004
38
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. 25 57
11896453 2002
39
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. 54 61 6
9792887 1998
40
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. 6 54 61
9600250 1998
41
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. 61 54 57
9546330 1998
42
The elusive Angelman syndrome critical region. 54 61 57
9321755 1997
43
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. 57 25
7795645 1995
44
Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA. 61 57
33087932 2020
45
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]. 6 61
29188609 2017
46
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. 6 61
26255772 2015
47
Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations. 61 6
24796722 2015
48
Ophthalmic findings in Angelman syndrome. 61 57
21596294 2011
49
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome. 6 61
21072004 2010
50
Angelman syndrome (AS, MIM 105830). 61 57
19455185 2009
Sources

Variations for Angelman Syndrome

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ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 321)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBE3A UBE3A, 5-BP DUP Duplication Pathogenic 7963 GRCh37:
GRCh38:
2 UBE3A UBE3A, IVS9, A-G, -8 SNV Pathogenic 7964 GRCh37:
GRCh38:
3 UBE3A UBE3A, 2-BP DEL, 1344GT Deletion Pathogenic 7965 GRCh37:
GRCh38:
4 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter) SNV Pathogenic 7966 GRCh37: 15:25616012-25616012
GRCh38: 15:25370865-25370865
5 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) SNV Pathogenic 7967 rs111033595 GRCh37: 15:25585366-25585366
GRCh38: 15:25340219-25340219
6 SNHG14 , UBE3A NM_130839.5(UBE3A):c.376A>C (p.Thr126Pro) SNV Pathogenic 7968 rs111033596 GRCh37: 15:25616945-25616945
GRCh38: 15:25371798-25371798
7 SNHG14 , UBE3A NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) SNV Pathogenic 7969 rs111033597 GRCh37: 15:25616872-25616872
GRCh38: 15:25371725-25371725
8 UBE3A UBE3A, 4-BP DEL, 3093AAGA Deletion Pathogenic 7970 GRCh37:
GRCh38:
9 UBE3A UBE3A, 2-BP DEL, 1930AG Deletion Pathogenic 7971 GRCh37:
GRCh38:
10 UBE3A UBE3A, 4-BP DUP, EX10, GAGG Duplication Pathogenic 7972 GRCh37:
GRCh38:
11 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 Indel Pathogenic 30204 GRCh37:
GRCh38:
12 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) Deletion Pathogenic 160213 rs587784520 GRCh37: 15:25601960-25601963
GRCh38: 15:25356813-25356816
13 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) SNV Pathogenic 160219 rs587784526 GRCh37: 15:25584358-25584358
GRCh38: 15:25339211-25339211
14 SNHG14 , UBE3A NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) Deletion Pathogenic 160226 rs587784532 GRCh37: 15:25616750-25616756
GRCh38: 15:25371603-25371609
15 SNHG14 , UBE3A NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) SNV Pathogenic 160227 rs587784533 GRCh37: 15:25616432-25616432
GRCh38: 15:25371285-25371285
16 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) SNV Pathogenic 160228 rs587784534 GRCh37: 15:25616297-25616297
GRCh38: 15:25371150-25371150
17 overlap with 23 genes NC_000015.9:g.(?_23730704)_(28530182_?)del Deletion Pathogenic 209214 GRCh37: 15:23730704-28530182
GRCh38:
18 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) Duplication Pathogenic 212535 rs1555379800 GRCh37: 15:25584335-25584336
GRCh38: 15:25339188-25339189
19 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) Duplication Pathogenic 212531 rs797046085 GRCh37: 15:25599716-25599717
GRCh38: 15:25354569-25354570
20 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) Duplication Pathogenic 212533 rs587781230 GRCh37: 15:25584336-25584337
GRCh38: 15:25339189-25339190
21 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) Duplication Pathogenic 212536 rs797046088 GRCh37: 15:25584295-25584296
GRCh38: 15:25339148-25339149
22 SNHG14 , UBE3A NM_130838.3(UBE3A):c.2+1_2+2insAA Insertion Pathogenic 212530 rs797046084 GRCh37: 15:25650606-25650607
GRCh38: 15:25405459-25405460
23 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) Duplication Pathogenic 212534 rs797046087 GRCh37: 15:25584340-25584341
GRCh38: 15:25339193-25339194
24 SNHG14 , UBE3A NM_130838.1(UBE3A):c.-44_*1888del Deletion Pathogenic 241833 GRCh37: 15:25582396-25650653
GRCh38: 15:25337249-25405506
25 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) Deletion Pathogenic 160220 GRCh37: 15:25584333-25584336
GRCh38: 15:25339186-25339189
26 SNHG14 , UBE3A NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) Deletion Pathogenic 160223 rs587784529 GRCh37: 15:25616940-25616944
GRCh38: 15:25371793-25371797
27 SNHG14 , UBE3A NM_130839.5(UBE3A):c.440del (p.Ile147fs) Deletion Pathogenic 160224 rs587784530 GRCh37: 15:25616881-25616881
GRCh38: 15:25371734-25371734
28 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1600del (p.Val535fs) Deletion Pathogenic 568584 rs1566954070 GRCh37: 15:25615721-25615721
GRCh38: 15:25370574-25370574
29 SNHG14 , UBE3A NC_000015.10:g.(?_25360363)_(25360547_?)del Deletion Pathogenic 583413 GRCh37: 15:25605510-25605694
GRCh38: 15:25360363-25360547
30 SNHG14 , UBE3A NC_000015.10:g.(?_25354333)_(25360547_?)del Deletion Pathogenic 583861 GRCh37: 15:25599480-25605694
GRCh38: 15:25354333-25360547
31 SNHG14 , UBE3A NC_000015.10:g.(?_25375445)_(25375783_?)del Deletion Pathogenic 584072 GRCh37: 15:25620592-25620930
GRCh38: 15:25375445-25375783
32 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1322del (p.Ile441fs) Deletion Pathogenic 645339 rs1595804239 GRCh37: 15:25615999-25615999
GRCh38: 15:25370852-25370852
33 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2424_2425CA[1] (p.Thr809fs) Microsatellite Pathogenic 665896 rs1595375630 GRCh37: 15:25585303-25585304
GRCh38: 15:25340156-25340157
34 overlap with 28 genes GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Pathogenic 625832 GRCh37: 15:22816713-28530182
GRCh38:
35 GABRG3 NM_033223.5(GABRG3):c.1125C>T (p.Asn375=) SNV Pathogenic 870529 GRCh37: 15:27777748-27777748
GRCh38: 15:27532602-27532602
36 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) Deletion Pathogenic 934588 GRCh37: 15:25599509-25599510
GRCh38: 15:25354362-25354363
37 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) SNV Pathogenic 949904 GRCh37: 15:25616309-25616309
GRCh38: 15:25371162-25371162
38 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter) SNV Pathogenic 984971 GRCh37: 15:25585320-25585320
GRCh38: 15:25340173-25340173
39 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1402del (p.Thr468fs) Deletion Pathogenic 1032380 GRCh37: 15:25615919-25615919
GRCh38: 15:25370772-25370772
40 MECP2 NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) SNV Pathogenic 11809 rs28934904 GRCh37: X:153296882-153296882
GRCh38: X:154031431-154031431
41 overlap with 24 genes Deletion Pathogenic 974578 GRCh37: 15:23579300-28447626
GRCh38:
42 overlap with 28 genes Deletion Pathogenic 974577 GRCh37: 15:22833416-28566671
GRCh38:
43 overlap with 30 genes Deletion Pathogenic 974576 GRCh37: 15:22646692-28964445
GRCh38:
44 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) SNV Pathogenic 864214 GRCh37: 15:25616255-25616255
GRCh38: 15:25371108-25371108
45 SNHG14 , UBE3A NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) SNV Pathogenic 803059 rs997044541 GRCh37: 15:25616495-25616495
GRCh38: 15:25371348-25371348
46 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) SNV Pathogenic 846659 GRCh37: 15:25616190-25616190
GRCh38: 15:25371043-25371043
47 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2374_2377CATT[1] (p.Ser793fs) Microsatellite Pathogenic 845525 GRCh37: 15:25585349-25585352
GRCh38: 15:25340202-25340205
48 SNHG14 , UBE3A NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) SNV Pathogenic 446052 rs1555399937 GRCh37: 15:25615817-25615817
GRCh38: 15:25370670-25370670
49 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) copy number loss Pathogenic 625717 GRCh37: 15:23683783-28530182
GRCh38:
50 overlap with 24 genes GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) copy number loss Pathogenic 625716 GRCh37: 15:23615768-28561671
GRCh38:

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 257068 17 45401562 45406950 Deletion DLX4 Angelman syndrome
11 257071 15 20444124 20555044 Deletion CYFIP1 Angelman syndrome
12 257072 15 20384835 20425332 Deletion TUBGCP5 Angelman syndrome
13 90908 15 25700000 31400000 Deletion UBE3A Angelman syndrome
Sources

Expression for Angelman Syndrome

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Search GEO for disease gene expression data for Angelman Syndrome.
Sources

Pathways for Angelman Syndrome

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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
Ion channel transport 65
Show member pathways
 12.05 GABRG3 GABRB3 GABRA5 ATP10A
2
Ubiquitin mediated proteolysis 36
11.69 UBE3A PRKN HUWE1
3
GABA receptor activation 65
Show member pathways
 11.63 GABRG3 GABRB3 GABRA5
4
Ligand-gated ion channel transport 65
Show member pathways
 10.76 GABRG3 GABRB3 GABRA5
5
Nicotine addiction 36
10.4 GABRG3 GABRB3 GABRA5
6
Synaptic Neurotransmission Pathways: GABAergic Inhibition 64
10.39 GABRB3 GABRA5
Sources

GO Terms for Angelman Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.63 PRKN MECP2 GABRG3 GABRB3 GABRA5 CDKL5
2 postsynapse GO:0098794 9.43 MECP2 GABRG3 GABRA5
3 chloride channel complex GO:0034707 9.13 GABRG3 GABRB3 GABRA5
4 GABA-A receptor complex GO:1902711 8.8 GABRG3 GABRB3 GABRA5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SLC9A6 NIPA1 GABRG3 GABRB3 GABRA5
2 ion transmembrane transport GO:0034220 9.78 GABRG3 GABRB3 GABRA5 ATP10A
3 rhythmic process GO:0048511 9.72 UBE3A MAGEL2 HUWE1
4 negative regulation of neuron apoptotic process GO:0043524 9.7 PRKN MECP2 GABRA5
5 regulation of membrane potential GO:0042391 9.67 GABRG3 GABRB3 GABRA5
6 chemical synaptic transmission GO:0007268 9.67 MECP2 GABRG3 GABRB3 GABRA5
7 chloride transmembrane transport GO:1902476 9.61 GABRG3 GABRB3 GABRA5
8 axon extension GO:0048675 9.54 SLC9A6 NDN
9 chloride transport GO:0006821 9.5 GABRG3 GABRB3 GABRA5
10 synaptic transmission, GABAergic GO:0051932 9.46 GABRG3 GABRA5
11 startle response GO:0001964 9.4 PRKN MECP2
12 negative regulation of mitochondrial fusion GO:0010637 9.26 PRKN HUWE1
13 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.16 PRKN HUWE1
14 nervous system process GO:0050877 9.13 GABRG3 GABRB3 GABRA5
15 gamma-aminobutyric acid signaling pathway GO:0007214 8.8 GABRG3 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 9.73 UBE3A PRKN MAGEL2 HUWE1
2 neurotransmitter receptor activity GO:0030594 9.58 GABRG3 GABRB3 GABRA5
3 chloride channel activity GO:0005254 9.43 GABRG3 GABRB3 GABRA5
4 benzodiazepine receptor activity GO:0008503 9.37 GABRG3 GABRA5
5 extracellular ligand-gated ion channel activity GO:0005230 9.33 GABRG3 GABRB3 GABRA5
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.32 GABRG3 GABRA5
7 GABA-A receptor activity GO:0004890 9.13 GABRG3 GABRB3 GABRA5
8 GABA-gated chloride ion channel activity GO:0022851 8.8 GABRG3 GABRB3 GABRA5
Sources

Sources for Angelman Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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