Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
AS
MCID: ANG001
MIFTS: 67

Angelman Syndrome (AS)

Categories: Fetal diseases, Genetic 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 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
As 57 53 25 75
Happy Puppet Syndrome 12 75
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:
isolated cases

Miscellaneous:
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Angelman Syndrome

About this section
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.

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain, and related phenotypes are seizures and ataxia

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a... 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 8288)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 33.4 UBE3A SNRPN ATP10A
2 christianson syndrome 31.9 SLC9A6 CDKL5
3 prader-willi syndrome 31.4 UBE3A SNURF SNRPN SNORD115-1 SNHG14 NPAP1
4 childhood absence epilepsy 30.9 NIPA2 GABRB3 GABRA5
5 chromosome 15q13.3 deletion syndrome 30.7 UBE3A NPAP1
6 pervasive developmental disorder 30.1 UBE3A MECP2 GABRB3 CDKL5
7 autism spectrum disorder 30.0 UBE3A MECP2 MAGEL2 GABRB3
8 autism 30.0 UBE3A SNRPN SLC9A6 NDN MECP2 MAGEL2
9 rett syndrome 29.9 UBE3A MECP2 MBD4 GABRB3 CDKL5
10 smoking as a quantitative trait locus 3 12.3
11 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.2
12 smoking as a quantitative trait locus 1 12.1
13 smoking as a quantitative trait locus 2 12.1
14 angelman syndrome due to maternal 15q11q13 deletion 12.1
15 stature as a quantitative trait 12.0
16 angelman syndrome due to a point mutation 12.0
17 spondyloarthropathy 1 11.7
18 antisynthetase syndrome 11.5
19 hepatocellular carcinoma 11.4
20 scheie syndrome 11.3
21 lip cancer 11.3
22 mbd5 haploinsufficiency 11.2
23 mental retardation, x-linked, syndromic, christianson type 11.1
24 acute gonococcal salpingitis 11.0
25 breast cancer 11.0
26 proteus syndrome 11.0
27 mycoplasma pneumoniae pneumonia 10.9
28 porphyria, acute hepatic 10.9
29 melanoma 10.9
30 prostate cancer 10.9
31 lymphoma 10.9
32 fetal methylmercury syndrome 10.9
33 asperger syndrome 10.9
34 multiple sclerosis 10.9
35 eclampsia 10.9
36 schizophrenia 10.9
37 lung cancer 10.9
38 colorectal cancer 10.9
39 migraine with or without aura 1 10.9
40 herpes zoster 10.9
41 dementia 10.9
42 fatty liver disease 10.9
43 mercury poisoning 10.8
44 multiple system atrophy 1 10.8
45 ovarian cancer 10.8
46 rheumatoid arthritis 10.8
47 asthma 10.8
48 adenocarcinoma 10.8
49 stiff-person syndrome 10.8
50 bronchitis 10.8

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



Diseases related to Angelman Syndrome
Sources

Symptoms & Phenotypes for Angelman Syndrome

About this section

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

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

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
Sources

Drugs & Therapeutics for Angelman Syndrome

About this section

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 59-92-7 6047
2
Dopamine Approved Phase 2, Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
3
Carbidopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 28860-95-9 34359 38101
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Neurotransmitter Agents Phase 2, Phase 3,Phase 1,Not Applicable
6 Dopamine Agents Phase 2, Phase 3,Phase 1,Not Applicable
7 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1,Not Applicable
8 Antiparkinson Agents Phase 2, Phase 3,Phase 1,Not Applicable
9 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
10 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1,Not Applicable
11 Antioxidants Phase 3,Phase 1
12 Protective Agents Phase 3,Phase 1
13 Central Nervous System Depressants Phase 3,Phase 1
14
Minocycline Approved, Investigational Phase 2,Not Applicable 10118-90-8 5281021
15
Gaboxadol Investigational Phase 2,Phase 1 64603-91-4 3448
16 Anti-Infective Agents Phase 2,Not Applicable
17 Anti-Bacterial Agents Phase 2,Not Applicable
18 Peripheral Nervous System Agents Phase 2
19 GABA Agonists Phase 2
20 GABA Agents Phase 2
21 Anticonvulsants Phase 2
22 Analgesics Phase 2
23 Ubiquinone Phase 2
24 Micronutrients Phase 2,Not Applicable
25 Pharmaceutical Solutions Phase 2
26 Trace Elements Phase 2,Not Applicable
27 Adjuvants, Immunologic Phase 1,Not Applicable
28 Dopamine agonists Phase 1,Not Applicable
29 Immunologic Factors Phase 1,Not Applicable
30
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
31
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
32
Polyestradiol phosphate Approved 28014-46-2
33 Estradiol valerate Approved, Investigational, Vet_approved 979-32-8
34
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
35
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
36
Creatine Approved, Investigational, Nutraceutical Not Applicable 57-00-1 586
37
Betaine Approved, Nutraceutical Not Applicable 107-43-7 247
38
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
39
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
40
Cobalamin Experimental Not Applicable 13408-78-1 6438156
41 Antacids Not Applicable
42 Calcium, Dietary Not Applicable
43 Vitamins Not Applicable
44 Anti-Ulcer Agents Not Applicable
45 Estradiol 17 beta-cypionate
46 Estradiol 3-benzoate
47 Lipid Regulating Agents Not Applicable
48 Antimetabolites Not Applicable
49 Hypolipidemic Agents Not Applicable
50 Vitamin B9 Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3 Levodopa;Placebo Oral Capsule
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
3 Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
4 A Study in Adults and Adolescents With Angelman Syndrome Completed NCT02996305 Phase 2 OV101 Regimen 1;OV101 regimen 2
5 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
6 Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
7 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
8 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
9 Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 Not Applicable minocycline
10 Study on the Brain Network of Angelman Syndrome Enrolling by invitation NCT03358823
11 Angelman Syndrome Italian Registry Recruiting NCT03650569
12 Nutritional Formulation for Angelman Syndrome Recruiting NCT03644693 Not Applicable
13 Characterization of Angelman Syndrome Active, not recruiting NCT00296764
14 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable Betaine;Creatine;Metafolin;Vitamin B12
15 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
16 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Not Applicable Levodopa
17 Angelman & Rett Syndrome: Interaction and Communication Not yet recruiting NCT03720028
18 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
19 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
20 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575 Not Applicable
21 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457

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 UBE3A
Sources

Anatomical Context for Angelman Syndrome

About this section

MalaCards organs/tissues related to Angelman Syndrome:

41
Eye, Tongue, Brain, Testes, Skin, Bone, Heart
Sources

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50) (show all 694)
# Title Authors Year
1
Enhancement of synaptic plasticity and reversal of impairments in motor and cognitive functions in a mouse model of Angelman Syndrome by a small neurogenic molecule, NSI-189. ( 30408487 )
2019
2
A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing. ( 29643790 )
2018
3
Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. ( 29696750 )
2018
4
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons. ( 29388081 )
2018
5
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model. ( 29621152 )
2018
6
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF. ( 29654525 )
2018
7
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study. ( 29737626 )
2018
8
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. ( 29097328 )
2018
9
Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases. ( 29350262 )
2018
10
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. ( 29719672 )
2018
11
Effect of epilepsy on autism symptoms in Angelman syndrome. ( 29340132 )
2018
12
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. ( 29788202 )
2018
13
Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. ( 29431654 )
2018
14
Anesthesia considerations for an adult patient with Angelman syndrome. ( 29414622 )
2018
15
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
16
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. ( 29423132 )
2018
17
Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. ( 29597185 )
2018
18
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. ( 29490614 )
2018
19
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. ( 29633452 )
2018
20
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. ( 29566378 )
2018
21
Myoclonus in Angelman syndrome. ( 29555100 )
2018
22
Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome. ( 30471990 )
2018
23
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2018
24
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 29516994 )
2018
25
A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs). ( 29987743 )
2018
26
Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue. ( 30016768 )
2018
27
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome. ( 30082419 )
2018
28
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs. ( 30102380 )
2018
29
A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study). ( 30126448 )
2018
30
Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome. ( 30140420 )
2018
31
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants. ( 30220990 )
2018
32
Angelman syndrome-associated point mutations in the Zn2+-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome. ( 30257870 )
2018
33
A mouse model of Angelman syndrome imprinting defects. ( 30260400 )
2018
34
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect. ( 30296670 )
2018
35
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice. ( 30352049 )
2018
36
Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names. ( 30468263 )
2018
37
A proteasomal partner goes missing in Angelman syndrome. ( 30470726 )
2018
38
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. ( 29162042 )
2017
39
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
40
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
41
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
42
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
43
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
44
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
45
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
46
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
47
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
48
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
49
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
50
Unmet clinical needs and burden in Angelman syndrome: a review of the literature. ( 29037196 )
2017
Sources

Variations for Angelman Syndrome

About this section

ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 485)
# Gene Variation Type Significance SNP ID Assembly Location
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_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
5 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh38 Chromosome 15, 25370865: 25370865
6 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh37 Chromosome 15, 25585366: 25585366
7 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh38 Chromosome 15, 25340219: 25340219
8 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
9 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh38 Chromosome 15, 25371798: 25371798
10 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
11 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh38 Chromosome 15, 25371725: 25371725
12 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
13 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
14 UBE3A NM_130838.2(UBE3A): c.558A> T (p.Ala186=) single nucleotide variant Conflicting interpretations of pathogenicity rs143484751 GRCh38 Chromosome 15, 25371556: 25371556
15 UBE3A NM_130838.2(UBE3A): c.558A> T (p.Ala186=) single nucleotide variant Conflicting interpretations of pathogenicity rs143484751 GRCh37 Chromosome 15, 25616703: 25616703
16 UBE3A NM_130838.1(UBE3A): c.1119T> C (p.Asp373=) single nucleotide variant Likely benign rs143000400 GRCh38 Chromosome 15, 25370995: 25370995
17 UBE3A NM_130838.1(UBE3A): c.1119T> C (p.Asp373=) single nucleotide variant Likely benign rs143000400 GRCh37 Chromosome 15, 25616142: 25616142
18 UBE3A NM_130838.2(UBE3A): c.1125A> G (p.Glu375=) single nucleotide variant Benign rs114056442 GRCh38 Chromosome 15, 25370989: 25370989
19 UBE3A NM_130838.2(UBE3A): c.1125A> G (p.Glu375=) single nucleotide variant Benign rs114056442 GRCh37 Chromosome 15, 25616136: 25616136
20 UBE3A NM_130838.2(UBE3A): c.1344A> G (p.Thr448=) single nucleotide variant Benign rs150331504 GRCh38 Chromosome 15, 25370770: 25370770
21 UBE3A NM_130838.2(UBE3A): c.1344A> G (p.Thr448=) single nucleotide variant Benign rs150331504 GRCh37 Chromosome 15, 25615917: 25615917
22 UBE3A NM_130838.2(UBE3A): c.1707C> T (p.Tyr569=) single nucleotide variant Conflicting interpretations of pathogenicity rs139082033 GRCh38 Chromosome 15, 25356883: 25356883
23 UBE3A NM_130838.2(UBE3A): c.1707C> T (p.Tyr569=) single nucleotide variant Conflicting interpretations of pathogenicity rs139082033 GRCh37 Chromosome 15, 25602030: 25602030
24 UBE3A NM_130838.1(UBE3A): c.2355T> C (p.Phe785=) single nucleotide variant Likely benign rs587780991 GRCh38 Chromosome 15, 25340168: 25340168
25 UBE3A NM_130838.1(UBE3A): c.2355T> C (p.Phe785=) single nucleotide variant Likely benign rs587780991 GRCh37 Chromosome 15, 25585315: 25585315
26 UBE3A NM_130838.1(UBE3A) duplication Pathogenic rs587781240 GRCh37 Chromosome 15, 25584336: 25584356
27 UBE3A NM_130838.1(UBE3A): c.317C> A (p.Thr106Lys) single nucleotide variant Pathogenic rs587781241 GRCh38 Chromosome 15, 25371797: 25371797
28 UBE3A NM_130838.1(UBE3A): c.317C> A (p.Thr106Lys) single nucleotide variant Pathogenic rs587781241 GRCh37 Chromosome 15, 25616944: 25616944
29 UBE3A NM_130838.1(UBE3A): c.710T> A (p.Leu237His) single nucleotide variant Likely pathogenic rs587780582 GRCh38 Chromosome 15, 25371404: 25371404
30 UBE3A NM_130838.1(UBE3A): c.710T> A (p.Leu237His) single nucleotide variant Likely pathogenic rs587780582 GRCh37 Chromosome 15, 25616551: 25616551
31 UBE3A NM_130838.1(UBE3A): c.1304T> C (p.Leu435Pro) single nucleotide variant Likely pathogenic rs587781242 GRCh38 Chromosome 15, 25370810: 25370810
32 UBE3A NM_130838.1(UBE3A): c.1304T> C (p.Leu435Pro) single nucleotide variant Likely pathogenic rs587781242 GRCh37 Chromosome 15, 25615957: 25615957
33 UBE3A NM_130838.1(UBE3A): c.1430G> C (p.Arg477Pro) single nucleotide variant Likely pathogenic rs587781243 GRCh38 Chromosome 15, 25370684: 25370684
34 UBE3A NM_130838.1(UBE3A): c.1430G> C (p.Arg477Pro) single nucleotide variant Likely pathogenic rs587781243 GRCh37 Chromosome 15, 25615831: 25615831
35 UBE3A NM_130838.1(UBE3A): c.1697T> A (p.Met566Lys) single nucleotide variant Likely pathogenic rs587781244 GRCh38 Chromosome 15, 25356893: 25356893
36 UBE3A NM_130838.1(UBE3A): c.1697T> A (p.Met566Lys) single nucleotide variant Likely pathogenic rs587781244 GRCh37 Chromosome 15, 25602040: 25602040
37 MECP2 NM_004992.3(MECP2): c.1255C> T (p.Pro419Ser) single nucleotide variant Uncertain significance rs140258520 GRCh38 Chromosome X, 154030573: 154030573
38 MECP2 NM_004992.3(MECP2): c.1255C> T (p.Pro419Ser) single nucleotide variant Uncertain significance rs140258520 GRCh37 Chromosome X, 153296024: 153296024
39 subset of 23 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.(?_23730704)_(28530182_?)del deletion Pathogenic GRCh37 Chromosome 15, 23730704: 28530182
40 UBE3A NM_130838.1(UBE3A): c.2475_2478delACTT (p.Leu825Phefs) deletion Likely pathogenic rs863224940 GRCh37 Chromosome 15, 25584365: 25584368
41 UBE3A NM_130838.1(UBE3A): c.2475_2478delACTT (p.Leu825Phefs) deletion Likely pathogenic rs863224940 GRCh38 Chromosome 15, 25339218: 25339221
42 UBE3A NM_130838.1(UBE3A): c.2493_2509del17 (p.Ser831Argfs) deletion Pathogenic rs1057519062 GRCh38 Chromosome 15, 25339187: 25339203
43 UBE3A NM_130838.1(UBE3A): c.2493_2509del17 (p.Ser831Argfs) deletion Pathogenic rs1057519062 GRCh37 Chromosome 15, 25584334: 25584350
44 MECP2 NC_000023.10: g.(?_153287264)_(153363188_?)dup duplication Pathogenic GRCh37 Chromosome X, 153287264: 153363188
45 UBE3A NM_130838.3(UBE3A): c.2075A> G (p.Asn692Ser) single nucleotide variant Uncertain significance rs916720140 GRCh38 Chromosome 15, 25354673: 25354673
46 UBE3A NM_130838.3(UBE3A): c.2075A> G (p.Asn692Ser) single nucleotide variant Uncertain significance rs916720140 GRCh37 Chromosome 15, 25599820: 25599820
47 MECP2 NM_004992.3(MECP2): c.420G> A (p.Ala140=) single nucleotide variant Likely benign rs782082759 GRCh38 Chromosome X, 154031408: 154031408
48 MECP2 NM_004992.3(MECP2): c.420G> A (p.Ala140=) single nucleotide variant Likely benign rs782082759 GRCh37 Chromosome X, 153296859: 153296859
49 MECP2 NM_001110792.1(MECP2): c.41_57dup17 (p.Arg20Glufs) duplication Pathogenic GRCh37 Chromosome X, 153363066: 153363082
50 MECP2 NM_001110792.1(MECP2): c.41_57dup17 (p.Arg20Glufs) duplication Pathogenic GRCh38 Chromosome X, 154097609: 154097625

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
Sources

Expression for Angelman Syndrome

About this section
Search GEO for disease gene expression data for Angelman Syndrome.
Sources

Pathways for Angelman Syndrome

About this section

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
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 12.3 ATP10A GABRA5 GABRB3 NIPA1 NIPA2 RPS27A
2
Ion channel transport 66
Show member pathways
 11.95 ATP10A GABRA5 GABRB3 RPS27A
3
Miscellaneous transport and binding events 66
10.54 NIPA1 NIPA2
4
Synaptic Neurotransmission Pathways: GABAergic Inhibition 65
10.19 GABRA5 GABRB3
Sources

GO Terms for Angelman Syndrome

About this section

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

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

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 GABRA5 GABRB3
2 magnesium ion transmembrane transporter activity GO:0015095 8.96 NIPA1 NIPA2
3 GABA-gated chloride ion channel activity GO:0022851 8.62 GABRA5 GABRB3
Sources

Sources for Angelman Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....