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AS
MCID: ANG001
MIFTS: 61

Angelman Syndrome (AS)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal 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 57 12 76 24 53 25 54 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
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)

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 constipation, seizures 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 Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and testes, 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. 

NINDS : 54 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.

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 84)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome due to imprinting defect in 15q11-q13 34.1 ATP10A SNRPN UBE3A
2 christianson syndrome 32.2 CDKL5 SLC9A6
3 pervasive developmental disorder 30.5 CDKL5 GABRB3 MECP2 UBE3A
4 rett syndrome 30.1 CDKL5 GABRB3 MBD4 MECP2 UBE3A
5 autism spectrum disorder 29.9 GABRB3 MAGEL2 MECP2 UBE3A
6 hypotonia 29.7 MAGEL2 MECP2 UBE3A
7 prader-willi syndrome 29.2 GABRA5 GABRB3 MAGEL2 MECP2 NDN NIPA1
8 autism 28.5 CDKL5 GABRA5 GABRB3 MAGEL2 MBD4 MECP2
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 11.3
20 lip cancer 11.2
21 scheie syndrome 11.2
22 mbd5 haploinsufficiency 11.0
23 chromosome 15q13.3 deletion syndrome 10.9 NPAP1 UBE3A
24 mental retardation, x-linked, syndromic, christianson type 10.9
25 acute gonococcal salpingitis 10.9
26 chromosome 15q11-q13 duplication syndrome 10.9 ANCR UBE3A
27 seizure disorder 10.7 CDKL5 MECP2 UBE3A
28 childhood absence epilepsy 10.4 GABRA5 GABRB3 NIPA2
29 epilepsy 10.4
30 gait apraxia 10.3 CDKL5 MECP2
31 neuronitis 10.3
32 aging 10.1
33 microcephaly 10.0
34 albinism 9.9
35 myoclonus 9.9
36 nondisjunction 9.8
37 down syndrome 9.8
38 alacrima, achalasia, and mental retardation syndrome 9.8
39 oculocutaneous albinism 9.8
40 status epilepticus 9.8
41 sleep disorder 9.8
42 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 9.8 MAGEL2 NDN SNRPN
43 prader-willi syndrome due to imprinting mutation 9.8 MAGEL2 NDN SNRPN
44 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 9.7 MAGEL2 NDN SNRPN
45 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 9.7 MAGEL2 NDN SNRPN
46 alzheimer disease 9.7
47 hemifacial microsomia with radial defects 9.7
48 treacher collins syndrome 1 9.7
49 hemifacial microsomia 9.7
50 smith-magenis syndrome 9.7

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 deeply set eye 32 HP:0000490
31 abnormality of the face 59 Very frequent (99-80%)
32 protruding tongue 32 HP:0010808
33 flat occiput 32 HP:0005469
34 clumsiness 32 hallmark (90%) HP:0002312
35 truncal ataxia 32 HP:0002078
36 motor delay 32 HP:0001270
37 hyperactivity 32 HP:0000752
38 postnatal microcephaly 32 HP:0005484
39 drooling 32 HP:0002307
40 generalized hypotonia 32 HP:0001290
41 hypopigmentation of the skin 32 HP:0001010
42 progressive gait ataxia 32 HP:0007240
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:


constipation, seizures, 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 GABRA5 GABRB3 HUWE1 MAGEL2 MBD4 MECP2
Sources

Drugs & Therapeutics for Angelman Syndrome

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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,Not Applicable 28860-95-9 34359 38101
2
Dopamine Approved Phase 2, Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2, Phase 3,Phase 1,Not Applicable 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,Not Applicable
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1,Not Applicable
7 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1,Not Applicable
8 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
9 Dopamine Agents Phase 2, Phase 3,Phase 1,Not Applicable
10 Neurotransmitter Agents Phase 2, Phase 3,Phase 1,Not Applicable
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,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 Micronutrients Phase 2,Not Applicable
19 Trace Elements Phase 2,Not Applicable
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,Not Applicable
26 Dopamine agonists Phase 1,Not Applicable
27
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
28
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
29
Betaine Approved, Nutraceutical Not Applicable 107-43-7 247
30
Creatine Approved, Investigational, Nutraceutical Not Applicable 57-00-1 586
31
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
32
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
33
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Not Applicable 13422-55-4
34 Antacids Not Applicable
35 Anti-Ulcer Agents Not Applicable
36 Calcium, Dietary Not Applicable
37 Vitamins Not Applicable
38 Antimetabolites Not Applicable
39 Gastrointestinal Agents Not Applicable
40 Hematinics Not Applicable
41 Hypolipidemic Agents Not Applicable
42 Lipid Regulating Agents Not Applicable
43 Vitamin B 12 Not Applicable
44 Vitamin B Complex Not Applicable
45
Cobalamin Nutraceutical Not Applicable 13408-78-1 6438156
46 Folate Nutraceutical Not Applicable
47 Vitamin B12 Nutraceutical Not Applicable
48 Vitamin B9 Nutraceutical Not Applicable

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 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 Active, not 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 Not Applicable minocycline
10 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933 Not Applicable 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 Not Applicable
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 Not Applicable Levodopa

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 29 UBE3A
Sources

Anatomical Context for Angelman Syndrome

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MalaCards organs/tissues related to Angelman Syndrome:

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

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50) (show all 653)
# Title Authors Year
1
A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing. ( 29643790 )
2018
2
Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. ( 29696750 )
2018
3
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons. ( 29388081 )
2018
4
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model. ( 29621152 )
2018
5
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF. ( 29654525 )
2018
6
Identification of spatiotemporal gait parameters and pressure-related characteristics in children with Angelman syndrome: A pilot study. ( 29737626 )
2018
7
Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model. ( 29097328 )
2018
8
Vagal nerve stimulation for medically refractory epilepsy in Angelman syndrome: a series of three cases. ( 29350262 )
2018
9
Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. ( 29719672 )
2018
10
Effect of epilepsy on autism symptoms in Angelman syndrome. ( 29340132 )
2018
11
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. ( 29788202 )
2018
12
Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. ( 29431654 )
2018
13
Anesthesia considerations for an adult patient with Angelman syndrome. ( 29414622 )
2018
14
Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders. ( 29425059 )
2018
15
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons. ( 29423132 )
2018
16
Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. ( 29597185 )
2018
17
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
18
Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry. ( 29633452 )
2018
19
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. ( 29566378 )
2018
20
Myoclonus in Angelman syndrome. ( 29555100 )
2018
21
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 29516994 )
2018
22
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. ( 29162042 )
2017
23
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
24
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
25
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
26
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
27
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
28
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
29
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
30
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
31
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
32
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
33
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
34
Unmet clinical needs and burden in Angelman syndrome: a review of the literature. ( 29037196 )
2017
35
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]. ( 29188609 )
2017
36
Sleep in children with Angelman syndrome: Parental concerns and priorities. ( 28844022 )
2017
37
Angelman Syndrome Due to UBE3A Gene Mutation. ( 29250725 )
2017
38
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
39
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
40
Mom Genes: A Role for Loss of Maternal<i>Ube3a</i>in GABAergic Neurons in Angelman Syndrome. ( 29225531 )
2017
41
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2017
42
Prevalence of gastrointestinal symptoms in Angelman syndrome. ( 28816003 )
2017
43
Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature. ( 29696118 )
2017
44
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
45
Melatonin and Angelman Syndrome: Implications and Mathematical Model of Diurnal Secretion. ( 29379523 )
2017
46
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
47
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. ( 28764722 )
2017
48
Eye gaze and pupillary response in Angelman syndrome. ( 28750207 )
2017
49
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
50
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. ( 28814801 )
2017
Sources

Variations for Angelman Syndrome

About this section

ClinVar genetic disease variations for Angelman Syndrome:

6
(show top 50) (show all 403)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE3A UBE3A, 4-BP DUP, EX10, GAGG duplication 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.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh38 Chromosome 15, 25370865: 25370865
7 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh37 Chromosome 15, 25585366: 25585366
8 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh38 Chromosome 15, 25340219: 25340219
9 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
10 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh38 Chromosome 15, 25371798: 25371798
11 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
12 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh38 Chromosome 15, 25371725: 25371725
13 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
14 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
15 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
16 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh38 Chromosome X, 154031355: 154031355
17 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
18 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh38 Chromosome X, 154032416: 154032417
19 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
20 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh38 Chromosome X, 154030948: 154030948
21 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
22 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
23 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
24 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh38 Chromosome X, 154031405: 154031405
25 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
26 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
27 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh38 Chromosome X, 154031022: 154031022
28 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh37 Chromosome 15, 25615713: 25615714
29 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh38 Chromosome 15, 25370566: 25370567
30 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh37 Chromosome 15, 25584337: 25584340
31 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh38 Chromosome 15, 25339190: 25339193
32 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh37 Chromosome 15, 25616898: 25616899
33 UBE3A NM_130838.2(UBE3A): c.403dup (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh37 Chromosome 15, 25616858: 25616858
34 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh37 Chromosome 15, 25616714: 25616714
35 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh38 Chromosome 15, 25371567: 25371567
36 UBE3A NM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs) deletion Pathogenic rs587780570 GRCh37 Chromosome 15, 25616946: 25616949
37 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh38 Chromosome 15, 25371751: 25371752
38 UBE3A NM_130838.2(UBE3A): c.580dup (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh38 Chromosome 15, 25371534: 25371534
39 UBE3A NM_130838.2(UBE3A): c.580dup (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh37 Chromosome 15, 25616681: 25616681
40 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh38 Chromosome 15, 25371426: 25371426
41 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh37 Chromosome 15, 25616573: 25616573
42 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh38 Chromosome 15, 25371397: 25371397
43 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh37 Chromosome 15, 25616544: 25616544
44 UBE3A NM_130838.2(UBE3A): c.403dup (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh38 Chromosome 15, 25371711: 25371711
45 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
46 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh37 Chromosome 15, 25620814: 25620814
47 UBE3A NM_130838.2(UBE3A): c.199_202dup (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh38 Chromosome 15, 25375564: 25375567
48 UBE3A NM_130838.2(UBE3A): c.199_202dup (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh37 Chromosome 15, 25620711: 25620714
49 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
50 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh37 Chromosome 15, 25620649: 25620650

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:

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

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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 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 GABRA5 GABRB3 NIPA1 NIPA2 SLC9A6
2 negative regulation of neuron apoptotic process GO:0043524 9.63 GABRA5 GABRB3 MECP2
3 ion transmembrane transport GO:0034220 9.62 ATP10A GABRA5 GABRB3 RPS27A
4 cochlea development GO:0090102 9.51 GABRA5 GABRB3
5 axon extension GO:0048675 9.49 NDN SLC9A6
6 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 GABRA5 GABRB3
7 regulation of neuron apoptotic process GO:0043523 9.43 GABRA5 GABRB3
8 innervation GO:0060384 9.37 GABRA5 GABRB3
9 magnesium ion transmembrane transport GO:1903830 9.26 NIPA1 NIPA2
10 magnesium ion transport GO:0015693 9.16 NIPA1 NIPA2
11 inner ear receptor cell development GO:0060119 8.96 GABRA5 GABRB3
12 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
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