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AS
MCID: ANG001
MIFTS: 64

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

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MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
As 58 54 26 76
Happy Puppet Syndrome 12 76
Happy Puppet Syndrome, Formerly 58
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
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
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


Sources

Summaries for Angelman Syndrome

About this section
NINDS : 55 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 Miscellaneous transport and binding events. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and bone, and related phenotypes are seizures and ataxia

Genetics Home Reference : 26 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 : 54 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 : 58 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 : 76 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 : 77 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 8719)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 33.7 SNRPN ATP10A UBE3A
2 christianson syndrome 32.6 CDKL5 SLC9A6
3 childhood absence epilepsy 31.2 GABRA5 GABRB3 NIPA2
4 chromosome 15q13.3 deletion syndrome 31.0 NPAP1 UBE3A
5 prader-willi syndrome 30.9 UBE3A SNURF SNRPN SNORD115-1 SNHG14 NPAP1
6 pitt-hopkins syndrome 30.9 CDKL5 SLC9A6
7 rett syndrome 30.3 CDKL5 GABRB3 MBD4 MECP2 UBE3A
8 pervasive developmental disorder 30.3 CDKL5 GABRB3 MECP2 UBE3A
9 autism 30.0 UBE3A SNRPN NDN MECP2 MAGEL2 GABRB3
10 autism spectrum disorder 29.8 GABRB3 MAGEL2 MECP2 UBE3A
11 smoking as a quantitative trait locus 3 12.3
12 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.2
13 smoking as a quantitative trait locus 1 12.1
14 smoking as a quantitative trait locus 2 12.1
15 angelman syndrome due to maternal 15q11q13 deletion 12.1
16 stature as a quantitative trait 12.1
17 angelman syndrome due to a point mutation 12.1
18 spondyloarthropathy 1 11.7
19 antisynthetase syndrome 11.5
20 hepatocellular carcinoma 11.5
21 scheie syndrome 11.4
22 lip cancer 11.4
23 mbd5 haploinsufficiency 11.2
24 mental retardation, x-linked, syndromic, christianson type 11.1
25 acute gonococcal salpingitis 11.1
26 breast cancer 11.1
27 proteus syndrome 11.0
28 interstitial nephritis 11.0
29 melanoma 11.0
30 lymphoma 11.0
31 prostate cancer 11.0
32 porphyria, acute hepatic 11.0
33 multiple sclerosis 10.9
34 fetal methylmercury syndrome 10.9
35 migraine with or without aura 1 10.9
36 pulmonary embolism 10.9
37 eclampsia 10.9
38 fatty liver disease 10.9
39 colorectal cancer 10.9
40 schizophrenia 10.9
41 lung cancer 10.9
42 asperger syndrome 10.9
43 ovarian cancer 10.9
44 herpes zoster 10.9
45 dementia 10.9
46 respiratory failure 10.9
47 bronchitis 10.9
48 systemic lupus erythematosus 10.9
49 adenocarcinoma 10.9
50 rheumatoid arthritis 10.9

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:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
7 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
8 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
9 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
10 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
11 absent speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001344
12 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
13 intellectual disability, progressive 60 33 hallmark (90%) Very frequent (99-80%) HP:0006887
14 blue irides 60 33 hallmark (90%) Very frequent (99-80%) HP:0000635
15 clumsiness 33 hallmark (90%) HP:0002312
16 broad-based gait 33 hallmark (90%) HP:0002136
17 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
18 widely spaced teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000687
19 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
20 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
21 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
22 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
23 obesity 33 HP:0001513
24 nystagmus 33 HP:0000639
25 intellectual disability 33 HP:0001249
26 constipation 33 HP:0002019
27 neurological speech impairment 60 Very frequent (99-80%)
28 scoliosis 33 HP:0002650
29 global developmental delay 33 HP:0001263
30 feeding difficulties in infancy 33 HP:0008872
31 myopia 33 HP:0000545
32 motor delay 33 HP:0001270
33 deeply set eye 33 HP:0000490
34 abnormality of the face 60 Very frequent (99-80%)
35 protruding tongue 33 HP:0010808
36 flat occiput 33 HP:0005469
37 truncal ataxia 33 HP:0002078
38 progressive gait ataxia 33 HP:0007240
39 generalized hypotonia 33 HP:0001290
40 hyperactivity 33 HP:0000752
41 postnatal microcephaly 33 HP:0005484
42 drooling 33 HP:0002307
43 hypopigmentation of the skin 33 HP:0001010
44 exotropia 33 HP:0000577
45 sleep-wake cycle disturbance 33 HP:0006979
46 paroxysmal bursts of laughter 33 HP:0000749
47 fair hair 33 HP:0002286
48 limb tremor 33 HP:0200085

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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

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

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 1,Not Applicable 62-31-7, 51-61-6 681
2
Levodopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 59-92-7 6047
3
Carbidopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 28860-95-9 34359
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
6 Neurotransmitter Agents Phase 2, Phase 3,Phase 1,Not Applicable
7 Dopamine Agents Phase 2, Phase 3,Phase 1,Not Applicable
8 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1,Not Applicable
9 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1,Not Applicable
10 Antiparkinson Agents 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-Bacterial Agents Phase 2,Not Applicable
17 Anti-Infective Agents Phase 2,Not Applicable
18 Peripheral Nervous System Agents Phase 2
19 GABA Agents Phase 2
20 Analgesics Phase 2
21 GABA Agonists Phase 2
22 Anticonvulsants Phase 2
23 Ubiquinone Phase 2
24 Pharmaceutical Solutions Phase 2
25 Trace Elements Phase 2,Not Applicable
26 Micronutrients Phase 2,Not Applicable
27 Nutrients Phase 2,Not Applicable
28 Immunologic Factors Phase 1,Not Applicable
29 Dopamine agonists Phase 1,Not Applicable
30 Adjuvants, Immunologic Phase 1,Not Applicable
31
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
32
Polyestradiol phosphate Approved 28014-46-2
33
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
34
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
35
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
36
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
37
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
38
Creatine Approved, Investigational, Nutraceutical Not Applicable 57-00-1 586
39
Betaine Approved, Nutraceutical Not Applicable 107-43-7 247
40
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
41
Cobalamin Experimental Not Applicable 13408-78-1 6857388
42 Anti-Ulcer Agents Not Applicable
43 Vitamins Not Applicable
44 Antacids Not Applicable
45 Calcium, Dietary Not Applicable
46 Estradiol 17 beta-cypionate
47 Estradiol 3-benzoate
48 Vitamin B Complex Not Applicable
49 Hypolipidemic Agents Not Applicable
50 Lipid Regulating Agents Not Applicable

Interventional clinical trials:

(show all 23)
# 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 Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome Recruiting NCT03882918 Phase 2 OV101
6 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2 EPI-743
7 Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
8 Single Dose Pharmacokinetic (PK) Study Completed NCT03109756 Phase 1 OV101
9 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
10 Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 Not Applicable minocycline
11 Study on the Brain Network of Angelman Syndrome Enrolling by invitation NCT03358823
12 Angelman Syndrome Italian Registry Recruiting NCT03650569
13 Nutritional Formulation for Angelman Syndrome Recruiting NCT03644693 Not Applicable
14 Characterization of Angelman Syndrome Active, not recruiting NCT00296764
15 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable Betaine;Creatine;Metafolin;Vitamin B12
16 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
17 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Not Applicable Levodopa
18 Angelman & Rett Syndrome: Interaction and Communication Not yet recruiting NCT03720028
19 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
20 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
21 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575 Not Applicable
22 Outcomes Measures in Intellectual Disability Not yet recruiting NCT03878251 Not Applicable
23 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Sources

Genetic Tests for Angelman Syndrome

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Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 30 UBE3A
Sources

Anatomical Context for Angelman Syndrome

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MalaCards organs/tissues related to Angelman Syndrome:

42
Brain, Breast, Bone, Heart, Lung, Kidney, Skin
Sources

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50) (show all 713)
# Title Authors Year
1
A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs). ( 29987743 )
2019
2
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study. ( 31090212 )
2019
3
Communication in Angelman syndrome: a scoping review. ( 31074506 )
2019
4
Dual diagnosis causing severe phenotype in a patient with Angelman syndrome. ( 30998607 )
2019
5
Maladaptive behaviors in individuals with Angelman syndrome. ( 30942555 )
2019
6
Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family. ( 30890277 )
2019
7
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes. ( 30826071 )
2019
8
Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China. ( 30820248 )
2019
9
Down-Regulation of miRNA-708 Promotes Aberrant Calcium Signaling by Targeting Neuronatin in a Mouse Model of Angelman Syndrome. ( 30814928 )
2019
10
Sex-Dependent Sensory Phenotypes and Related Transcriptomic Expression Profiles Are Differentially Affected by Angelman Syndrome. ( 30706369 )
2019
11
Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series. ( 30681431 )
2019
12
Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13. ( 30605843 )
2019
13
Social-emotional processing in nonverbal individuals with Angelman syndrome: evidence from brain responses to known and novel names. ( 30468263 )
2019
14
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
15
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice. ( 30352049 )
2019
16
A mouse model of Angelman syndrome imprinting defects. ( 30260400 )
2019
17
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
18
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. ( 29788202 )
2018
19
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study. ( 29737626 )
2018
20
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. ( 29719672 )
2018
21
Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. ( 29696750 )
2018
22
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF. ( 29654525 )
2018
23
A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing. ( 29643790 )
2018
24
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. ( 29633452 )
2018
25
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model. ( 29621152 )
2018
26
Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. ( 29597185 )
2018
27
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. ( 29566378 )
2018
28
Myoclonus in Angelman syndrome. ( 29555100 )
2018
29
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 29516994 )
2018
30
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
31
Enhanced Operant Extinction and Prefrontal Excitability in a Mouse Model of Angelman Syndrome. ( 29431654 )
2018
32
Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
33
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. ( 29423132 )
2018
34
Anesthesia considerations for an adult patient with Angelman syndrome. ( 29414622 )
2018
35
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons. ( 29388081 )
2018
36
Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases. ( 29350262 )
2018
37
Effect of epilepsy on autism symptoms in Angelman syndrome. ( 29340132 )
2018
38
Angelman Syndrome Due to UBE3A Gene Mutation. ( 29250725 )
2018
39
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. ( 29097328 )
2018
40
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2018
41
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2018
42
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2018
43
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2018
44
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. ( 27990716 )
2018
45
Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome. ( 30471990 )
2018
46
A proteasomal partner goes missing in Angelman syndrome. ( 30470726 )
2018
47
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect. ( 30296670 )
2018
48
Angelman syndrome-associated point mutations in the Zn2+-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome. ( 30257870 )
2018
49
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants. ( 30220990 )
2018
50
Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome. ( 30140420 )
2018
Sources

Variations for Angelman Syndrome

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ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 491)
# 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_000462.5(UBE3A): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
5 UBE3A NM_000462.5(UBE3A): c.1318C> T (p.Arg440Ter) 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 UBE3A, 4-BP DUP, EX10, GAGG duplication Pathogenic
15 UBE3A NM_130838.3(UBE3A): c.558A> T (p.Ala186=) single nucleotide variant Conflicting interpretations of pathogenicity rs143484751 GRCh38 Chromosome 15, 25371556: 25371556
16 UBE3A NM_130838.3(UBE3A): c.558A> T (p.Ala186=) single nucleotide variant Conflicting interpretations of pathogenicity rs143484751 GRCh37 Chromosome 15, 25616703: 25616703
17 UBE3A NM_130838.1(UBE3A): c.1119T> C (p.Asp373=) single nucleotide variant Likely benign rs143000400 GRCh38 Chromosome 15, 25370995: 25370995
18 UBE3A NM_130838.1(UBE3A): c.1119T> C (p.Asp373=) single nucleotide variant Likely benign rs143000400 GRCh37 Chromosome 15, 25616142: 25616142
19 UBE3A NM_130838.3(UBE3A): c.1125A> G (p.Glu375=) single nucleotide variant Benign rs114056442 GRCh38 Chromosome 15, 25370989: 25370989
20 UBE3A NM_130838.3(UBE3A): c.1125A> G (p.Glu375=) single nucleotide variant Benign rs114056442 GRCh37 Chromosome 15, 25616136: 25616136
21 UBE3A NM_130838.3(UBE3A): c.1344A> G (p.Thr448=) single nucleotide variant Benign rs150331504 GRCh38 Chromosome 15, 25370770: 25370770
22 UBE3A NM_130838.3(UBE3A): c.1344A> G (p.Thr448=) single nucleotide variant Benign rs150331504 GRCh37 Chromosome 15, 25615917: 25615917
23 UBE3A NM_130838.3(UBE3A): c.1707C> T (p.Tyr569=) single nucleotide variant Conflicting interpretations of pathogenicity rs139082033 GRCh38 Chromosome 15, 25356883: 25356883
24 UBE3A NM_130838.3(UBE3A): c.1707C> T (p.Tyr569=) single nucleotide variant Conflicting interpretations of pathogenicity rs139082033 GRCh37 Chromosome 15, 25602030: 25602030
25 UBE3A NM_130838.1(UBE3A): c.2355T> C (p.Phe785=) single nucleotide variant Likely benign rs587780991 GRCh38 Chromosome 15, 25340168: 25340168
26 UBE3A NM_130838.1(UBE3A): c.2355T> C (p.Phe785=) single nucleotide variant Likely benign rs587780991 GRCh37 Chromosome 15, 25585315: 25585315
27 MECP2 NM_004992.3(MECP2): c.1161_1166del6 (p.Pro390_Pro391del) deletion Uncertain significance rs267608332 GRCh37 Chromosome X, 153296113: 153296118
28 MECP2 NM_004992.3(MECP2): c.1161_1166del6 (p.Pro390_Pro391del) deletion Uncertain significance rs267608332 GRCh38 Chromosome X, 154030662: 154030667
29 UBE3A NM_130838.1(UBE3A): c.1750G> C (p.Glu584Gln) single nucleotide variant Pathogenic rs587781235 GRCh37 Chromosome 15, 25601987: 25601987
30 UBE3A NM_130838.1(UBE3A): c.1967C> T (p.Thr656Ile) single nucleotide variant Pathogenic rs587781236 GRCh38 Chromosome 15, 25355989: 25355989
31 UBE3A NM_130838.1(UBE3A): c.1967C> T (p.Thr656Ile) single nucleotide variant Pathogenic rs587781236 GRCh37 Chromosome 15, 25601136: 25601136
32 UBE3A NM_130838.1(UBE3A): c.2069T> G (p.Phe690Cys) single nucleotide variant Pathogenic rs587781237 GRCh38 Chromosome 15, 25354679: 25354679
33 UBE3A NM_130838.1(UBE3A): c.2069T> G (p.Phe690Cys) single nucleotide variant Pathogenic rs587781237 GRCh37 Chromosome 15, 25599826: 25599826
34 UBE3A NM_130838.1(UBE3A): c.2406_2408delGAT (p.Met802del) deletion Pathogenic rs587781238 GRCh37 Chromosome 15, 25585262: 25585264
35 UBE3A NM_130838.1(UBE3A): c.2406_2408delGAT (p.Met802del) deletion Pathogenic rs587781238 GRCh38 Chromosome 15, 25340115: 25340117
36 UBE3A NM_130838.1(UBE3A): c.2480C> T (p.Pro827Leu) single nucleotide variant Pathogenic rs587781239 GRCh38 Chromosome 15, 25339216: 25339216
37 subset of 23 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.(?_23730704)_(28530182_?)del deletion Pathogenic GRCh37 Chromosome 15, 23730704: 28530182
38 MECP2 NC_000023.10: g.(?_153287264)_(153363188_?)dup duplication Pathogenic GRCh37 Chromosome X, 153287264: 153363188
39 UBE3A NM_130838.1(UBE3A): c.1516C> T (p.Arg506Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1064793307 GRCh38 Chromosome 15, 25370598: 25370598
40 UBE3A NM_130838.1(UBE3A): c.1516C> T (p.Arg506Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1064793307 GRCh37 Chromosome 15, 25615745: 25615745
41 UBE3A NM_130838.1(UBE3A): c.799G> A (p.Val267Ile) single nucleotide variant Uncertain significance rs1064794579 GRCh38 Chromosome 15, 25371315: 25371315
42 UBE3A NM_130838.1(UBE3A): c.799G> A (p.Val267Ile) single nucleotide variant Uncertain significance rs1064794579 GRCh37 Chromosome 15, 25616462: 25616462
43 UBE3A NM_130838.3(UBE3A): c.2075A> G (p.Asn692Ser) single nucleotide variant Uncertain significance rs916720140 GRCh37 Chromosome 15, 25599820: 25599820
44 UBE3A NM_130838.3(UBE3A): c.2075A> G (p.Asn692Ser) single nucleotide variant Uncertain significance rs916720140 GRCh38 Chromosome 15, 25354673: 25354673
45 UBE3A NM_130838.2(UBE3A): c.2295-6_2295-5insTAAT insertion Likely benign rs1555380917 GRCh38 Chromosome 15, 25340233: 25340234
46 UBE3A NM_130838.2(UBE3A): c.2295-6_2295-5insTAAT insertion Likely benign rs1555380917 GRCh37 Chromosome 15, 25585380: 25585381
47 UBE3A NM_130838.2(UBE3A): c.2294+10T> C single nucleotide variant Likely benign rs1555389575 GRCh38 Chromosome 15, 25354343: 25354343
48 UBE3A NM_130838.2(UBE3A): c.2294+10T> C single nucleotide variant Likely benign rs1555389575 GRCh37 Chromosome 15, 25599490: 25599490
49 UBE3A NM_130838.1(UBE3A): c.2102A> T (p.Lys701Ile) single nucleotide variant Uncertain significance rs1555389881 GRCh38 Chromosome 15, 25354646: 25354646
50 UBE3A NM_130838.1(UBE3A): c.2102A> T (p.Lys701Ile) single nucleotide variant Uncertain significance rs1555389881 GRCh37 Chromosome 15, 25599793: 25599793

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

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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:

38
# 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
Miscellaneous transport and binding events 67
10.23 NIPA1 NIPA2
2
Synaptic Neurotransmission Pathways: GABAergic Inhibition 66
9.85 GABRA5 GABRB3
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 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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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