MCID: ANG001
MIFTS: 61

Angelman Syndrome

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

Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 53 12 72 23 49 24 50 55 71 36 28 13 51 41 14 69
As 53 49 24 71
Happy Puppet Syndrome 12 71
Happy Puppet Syndrome, Formerly 53
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
angelman syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Inherited ube3a pathogenic variants, ic deletions, very small 15q11.2-q13 deletions that include ube3a [kuroda et al 2014] and certain chromosome translocations follow an imprinting (or inheritance) pattern in which an individual who inherits a paternally transmitted pathogenic variant is asymptomatic (see figure 3)...

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Angelman Syndrome

OMIM : 53 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)

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 ataxia, seizures and muscular hypotonia. 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 Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and testes, and related phenotype is nervous system.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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.  Last updated: 12/31/2015

NINDS : 50 Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

Genetics Home Reference : 24 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.

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

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

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 33.6 ATP10A SNRPN UBE3A
2 christianson syndrome 31.5 CDKL5 SLC9A6
3 prader-willi syndrome 30.1 GABRA5 GABRB3 MAGEL2 MECP2 NDN NIPA1
4 pervasive developmental disorder 29.6 CDKL5 GABRB3 MECP2 UBE3A
5 hypotonia 29.5 MAGEL2 MECP2 UBE3A
6 rett syndrome 29.4 CDKL5 GABRB3 MBD4 MECP2 UBE3A
7 autism spectrum disorder 29.3 GABRA5 GABRB3 MAGEL2 MECP2 UBE3A
8 autism 28.1 ATP10A CDKL5 GABRA5 GABRB3 MAGEL2 MBD4
9 smoking as a quantitative trait locus 3 12.1
10 angelman syndrome due to paternal uniparental disomy of chromosome 15 12.0
11 smoking as a quantitative trait locus 1 11.9
12 smoking as a quantitative trait locus 2 11.9
13 angelman syndrome due to maternal 15q11q13 deletion 11.9
14 stature as a quantitative trait 11.9
15 angelman syndrome due to a point mutation 11.9
16 spondyloarthropathy 1 11.5
17 aortic valve disease 2 11.4
18 antisynthetase syndrome 11.3
19 hepatocellular carcinoma 11.2
20 osteochondrosis 11.2
21 lip cancer 11.2
22 scheie syndrome 11.2
23 mbd5 haploinsufficiency 11.0
24 mental retardation, x-linked, syndromic, christianson type 10.9
25 acute gonococcal salpingitis 10.9
26 proteus syndrome 10.8
27 chromosome 15q11-q13 duplication syndrome 10.5 ANCR UBE3A
28 epilepsy 10.4
29 neuronitis 10.2
30 childhood absence epilepsy 10.2 GABRA5 GABRB3 NIPA2
31 seizure disorder 10.1 CDKL5 MECP2 UBE3A
32 aging 10.1
33 ataxia and polyneuropathy, adult-onset 10.0
34 dilution, pigmentary 10.0
35 microcephaly 10.0
36 xp22.13p22.2 duplication syndrome 10.0
37 xq12-q13.3 duplication syndrome 10.0
38 albinism 9.9
39 gait apraxia 9.9 CDKL5 MECP2
40 nondisjunction 9.8
41 down syndrome 9.8
42 alacrima, achalasia, and mental retardation syndrome 9.8
43 oculocutaneous albinism 9.8
44 sleep disorder 9.8
45 chromosome 15q duplication 9.8
46 myoclonus 9.8
47 alzheimer disease 9.7
48 blood group, i system 9.7
49 hemifacial microsomia with radial defects 9.7
50 treacher collins syndrome 1 9.7

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



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

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)

Neurologic Central Nervous System:
seizures
hyperreflexia
absent speech
developmental delay
hypotonia
more
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:

55 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
5 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
6 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
7 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
8 mandibular prognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000303
9 widely spaced teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000687
10 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
11 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
12 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
13 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
14 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 absent speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001344
16 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120
17 intellectual disability, progressive 55 31 hallmark (90%) Very frequent (99-80%) HP:0006887
18 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
19 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
20 blue irides 55 31 hallmark (90%) Very frequent (99-80%) HP:0000635
21 constipation 31 HP:0002019
22 clumsiness 31 hallmark (90%) HP:0002312
23 obesity 31 HP:0001513
24 nystagmus 31 HP:0000639
25 intellectual disability 31 HP:0001249
26 neurological speech impairment 55 Very frequent (99-80%)
27 scoliosis 31 HP:0002650
28 global developmental delay 31 HP:0001263
29 feeding difficulties in infancy 31 HP:0008872
30 myopia 31 HP:0000545
31 deeply set eye 31 HP:0000490
32 abnormality of the face 55 Very frequent (99-80%)
33 protruding tongue 31 HP:0010808
34 flat occiput 31 HP:0005469
35 motor delay 31 HP:0001270
36 hyperactivity 31 HP:0000752
37 postnatal microcephaly 31 HP:0005484
38 drooling 31 HP:0002307
39 generalized hypotonia 31 HP:0001290
40 hypopigmentation of the skin 31 HP:0001010
41 exotropia 31 HP:0000577
42 broad-based gait 31 hallmark (90%) HP:0002136
43 truncal ataxia 31 HP:0002078
44 paroxysmal bursts of laughter 31 HP:0000749
45 fair hair 31 HP:0002286
46 limb tremor 31 HP:0200085
47 sleep-wake cycle disturbance 31 HP:0006979
48 progressive gait ataxia 31 HP:0007240

UMLS symptoms related to Angelman Syndrome:


tremor, limb, seizures, constipation

MGI Mouse Phenotypes related to Angelman Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 CDKL5 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4

Drugs & Therapeutics for Angelman Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2, Phase 3,Phase 1 28860-95-9 38101 34359
2
Dopamine Approved Phase 2, Phase 3,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2, Phase 3,Phase 1 59-92-7 6047
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Antiparkinson Agents Phase 2, Phase 3,Phase 1
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1
7 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1
8 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
9 Dopamine Agents Phase 2, Phase 3,Phase 1
10 Neurotransmitter Agents Phase 2, Phase 3,Phase 1
11 Antioxidants Phase 3,Phase 1
12 Central Nervous System Depressants Phase 3,Phase 1
13 Protective Agents Phase 3,Phase 1
14
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
15
Gaboxadol Investigational Phase 2,Phase 1 64603-91-4 3448
16 Anti-Bacterial Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Micronutrients Phase 2
19 Trace Elements Phase 2
20 Analgesics Phase 2
21 Anticonvulsants Phase 2
22 GABA Agents Phase 2
23 GABA Agonists Phase 2
24 Peripheral Nervous System Agents Phase 2
25 Adjuvants, Immunologic Phase 1
26 Dopamine agonists Phase 1
27
Tetracycline Approved, Vet_approved 60-54-8 5353990
28
Hydroxocobalamin Approved 13422-51-0 5460373 44475014 11953898
29
Betaine Approved, Nutraceutical 107-43-7 247
30
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
31
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
32
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
33
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical 13422-55-4
34 Antacids
35 Anti-Ulcer Agents
36 Calcium, Dietary
37 Vitamins
38 Antimetabolites
39 Gastrointestinal Agents
40 Hematinics
41 Hypolipidemic Agents
42 Lipid Regulating Agents
43 Vitamin B 12
44 Vitamin B Complex
45
Cobalamin Nutraceutical 13408-78-1 6438156
46 Folate Nutraceutical
47 Vitamin B12 Nutraceutical
48 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 18)

# 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 Active, not recruiting 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 Recruiting 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 minocycline
10 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
11 Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW Completed NCT02670694
12 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
13 Genomic Imprinting and Assisted Reproductive Technologies Completed NCT00773825
14 Effects of Creatine Supplementation in Rett Syndrome Completed NCT01147575
15 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457
16 Characterization of Angelman Syndrome Active, not recruiting NCT00296764
17 Study on the Brain Network of Angelman Syndrome Enrolling by invitation NCT03358823
18 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Enrolling by invitation NCT03235037 Levodopa

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 28 UBE3A

Anatomical Context for Angelman Syndrome

MalaCards organs/tissues related to Angelman Syndrome:

38
Tongue, Brain, Testes, Eye, Skin, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(show top 50) (show all 628)
# Title Authors Year
1
Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases. ( 29350262 )
2018
2
Anesthesia considerations for an adult patient with Angelman syndrome. ( 29414622 )
2018
3
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
4
Effect of epilepsy on autism symptoms in Angelman syndrome. ( 29340132 )
2018
5
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. ( 29097328 )
2018
6
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. ( 29423132 )
2018
7
Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. ( 29431654 )
2018
8
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons. ( 29388081 )
2018
9
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
10
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice. ( 28663201 )
2017
11
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
12
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
13
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
14
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
15
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
16
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
17
Mom Genes: A Role for Loss of Maternal<i>Ube3a</i>in GABAergic Neurons in Angelman Syndrome. ( 29225531 )
2017
18
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. ( 29162042 )
2017
19
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
20
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome. ( 28576709 )
2017
21
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2017
22
Eye gaze and pupillary response in Angelman syndrome. ( 28750207 )
2017
23
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
24
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. ( 28814801 )
2017
25
Unmet clinical needs and burden in Angelman syndrome: a review of the literature. ( 29037196 )
2017
26
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2017
27
Melatonin and Angelman Syndrome: Implications and Mathematical Model of Diurnal Secretion. ( 29379523 )
2017
28
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
29
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice. ( 28468997 )
2017
30
Sleep in children with Angelman syndrome: Parental concerns and priorities. ( 28844022 )
2017
31
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
32
Prevalence of gastrointestinal symptoms in Angelman syndrome. ( 28816003 )
2017
33
Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome. ( 29354033 )
2017
34
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
35
Angelman Syndrome Due to UBE3A Gene Mutation. ( 29250725 )
2017
36
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. ( 28436452 )
2017
37
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. ( 28503211 )
2017
38
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
39
Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital. ( 28109989 )
2017
40
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
41
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. ( 28764722 )
2017
42
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
43
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. ( 27232889 )
2016
44
Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. ( 27769316 )
2016
45
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. ( 27006693 )
2016
46
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
47
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. ( 26727042 )
2016
48
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice. ( 27173058 )
2016
49
Angelman Syndrome: A Case Report. ( 27247589 )
2016
50
Pharmacological therapies for Angelman syndrome. ( 26758979 )
2016

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
2 UBE3A UBE3A, 5-BP DUP duplication Pathogenic
3 UBE3A UBE3A, IVS9, A-G, -8 single nucleotide variant Pathogenic
4 UBE3A UBE3A, 2-BP DEL, 1344GT deletion Pathogenic
5 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
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.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
8 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
9 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
10 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
11 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
12 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
13 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
14 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
15 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
16 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
17 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh37 Chromosome 15, 25615713: 25615714
18 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh37 Chromosome 15, 25584337: 25584340
19 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
20 UBE3A NM_130838.2(UBE3A): c.199_202dup (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh38 Chromosome 15, 25375564: 25375567
21 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
22 UBE3A NM_130838.2(UBE3A): c.275dup (p.Lys93Glufs) duplication Pathogenic rs587780568 GRCh38 Chromosome 15, 25375491: 25375491
23 UBE3A NM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs) deletion Pathogenic rs587780569 GRCh38 Chromosome 15, 25375486: 25375489
24 UBE3A NM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs) deletion Pathogenic rs587780570 GRCh38 Chromosome 15, 25371799: 25371802
25 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh38 Chromosome 15, 25371751: 25371752
26 UBE3A NM_130838.2(UBE3A): c.403dup (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh38 Chromosome 15, 25371711: 25371711
27 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh37 Chromosome 15, 25616714: 25616714
28 UBE3A NM_130838.2(UBE3A): c.580dup (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh38 Chromosome 15, 25371534: 25371534
29 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh38 Chromosome 15, 25371426: 25371426
30 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh38 Chromosome 15, 25371397: 25371397
31 UBE3A NM_130838.1(UBE3A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587780577 GRCh38 Chromosome 15, 25405461: 25405461
32 UBE3A NM_130838.1(UBE3A): c.302-2A> T single nucleotide variant Pathogenic rs587780578 GRCh38 Chromosome 15, 25371814: 25371814
33 UBE3A NM_130838.1(UBE3A): c.1694-2A> G single nucleotide variant Pathogenic rs587780579 GRCh38 Chromosome 15, 25356898: 25356898
34 UBE3A NM_130838.1(UBE3A): c.2065-2A> C single nucleotide variant Pathogenic rs587780580 GRCh38 Chromosome 15, 25354685: 25354685
35 UBE3A NM_130838.1(UBE3A): c.2558A> T (p.Ter853Leu) single nucleotide variant Pathogenic rs76794400 GRCh38 Chromosome 15, 25339138: 25339138
36 UBE3A NM_130838.1(UBE3A): c.635A> T (p.Asp212Val) single nucleotide variant Pathogenic rs587780581 GRCh38 Chromosome 15, 25371479: 25371479
37 UBE3A NM_130838.1(UBE3A): c.710T> C (p.Leu237Pro) single nucleotide variant Pathogenic rs587780582 GRCh38 Chromosome 15, 25371404: 25371404
38 UBE3A NM_130838.1(UBE3A): c.788T> G (p.Leu263Trp) single nucleotide variant Pathogenic rs587780583 GRCh38 Chromosome 15, 25371326: 25371326
39 UBE3A NM_130838.1(UBE3A): c.1373C> T (p.Pro458Leu) single nucleotide variant Pathogenic rs587780584 GRCh38 Chromosome 15, 25370741: 25370741
40 UBE3A NM_130838.1(UBE3A): c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) deletion Pathogenic rs587780585 GRCh38 Chromosome 15, 25370735: 25370749
41 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh37 Chromosome X, 153297924: 153297927
42 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh37 Chromosome X, 153296079: 153296122
43 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
44 CDKL5 NM_003159.2(CDKL5): c.902_903dupGA (p.Leu302Aspfs) duplication Pathogenic rs267608546 GRCh37 Chromosome X, 18616658: 18616659
45 UBE3A NM_130838.1(UBE3A): c.750T> A (p.Tyr250Ter) single nucleotide variant Pathogenic rs587781190 GRCh38 Chromosome 15, 25371364: 25371364
46 UBE3A NM_130838.1(UBE3A): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587781191 GRCh38 Chromosome 15, 25371153: 25371153
47 UBE3A NM_130838.1(UBE3A): c.972_978delTACTTAT (p.Thr325Lysfs) deletion Pathogenic rs587781192 GRCh38 Chromosome 15, 25371136: 25371142
48 UBE3A NM_130838.2(UBE3A): c.1067dup (p.Tyr356Terfs) duplication Pathogenic rs587781193 GRCh38 Chromosome 15, 25371047: 25371047
49 UBE3A NM_130838.2(UBE3A): c.1076dup (p.Asn359Lysfs) duplication Pathogenic rs587781194 GRCh38 Chromosome 15, 25371038: 25371038
50 UBE3A NM_130838.1(UBE3A): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic rs587781195 GRCh38 Chromosome 15, 25371000: 25371000

Copy number variations for Angelman Syndrome from CNVD:

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

Expression for Angelman Syndrome

Search GEO for disease gene expression data for Angelman Syndrome.

Pathways for Angelman Syndrome

Pathways related to Angelman Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

GO Terms for Angelman Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 GABA-A receptor complex GO:1902711 8.96 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 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 GABRA5 GABRB3 NIPA1 NIPA2 SLC9A6
2 transmembrane transport GO:0055085 9.8 GABRA5 GABRB3 NIPA1 RPS27A SLC9A6
3 negative regulation of neuron apoptotic process GO:0043524 9.65 GABRA5 GABRB3 MECP2
4 ion transmembrane transport GO:0034220 9.56 ATP10A GABRA5 GABRB3 RPS27A
5 cochlea development GO:0090102 9.52 GABRA5 GABRB3
6 axon extension GO:0048675 9.51 NDN SLC9A6
7 gamma-aminobutyric acid signaling pathway GO:0007214 9.49 GABRA5 GABRB3
8 regulation of neuron apoptotic process GO:0043523 9.43 GABRA5 GABRB3
9 innervation GO:0060384 9.37 GABRA5 GABRB3
10 magnesium ion transmembrane transport GO:1903830 9.32 NIPA1 NIPA2
11 magnesium ion transport GO:0015693 9.16 NIPA1 NIPA2
12 inner ear receptor cell development GO:0060119 8.96 GABRA5 GABRB3
13 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 8.96 GABRA5 GABRB3
2 magnesium ion transmembrane transporter activity GO:0015095 8.62 NIPA1 NIPA2

Sources for Angelman Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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