MCID: ANG001
MIFTS: 62

Angelman Syndrome

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

Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 54 12 72 23 50 24 25 51 56 71 29 13 52 42 14 69
As 50 25 71
Happy Puppet Syndrome 12 71
Puppetlike Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:

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: 56  
Rare neurological diseases


Summaries for Angelman Syndrome

OMIM : 54
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 paternal uniparental disomy of chromosome 15 and smoking as a quantitative trait locus 2, and has symptoms including macroglossia, ataxia and strabismus. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. 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.

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 : 50 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 : 51 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 : 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.

Wikipedia : 72 Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a... more...

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

Cdkl5-Related Angelman-Like Syndrome Mecp2-Related Angelman-Like Syndrome
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)
id Related Disease Score Top Affiliating Genes
1 angelman syndrome due to paternal uniparental disomy of chromosome 15 11.9
2 smoking as a quantitative trait locus 2 11.8
3 smoking as a quantitative trait locus 1 11.8
4 angelman syndrome due to maternal 15q11q13 deletion 11.8
5 angelman syndrome due to a point mutation 11.7
6 angelman syndrome due to imprinting defect in 15q11-q13 11.7
7 osteochondrosis 11.3
8 prader-willi syndrome 11.3
9 antisynthetase syndrome 11.2
10 spondyloarthropathy 1 11.2
11 hepatocellular carcinoma 11.1
12 aortic valve disease 2 11.1
13 lip cancer 11.1
14 mental retardation, x-linked syndromic, christianson type 11.0
15 mbd5 haploinsufficiency 10.9
16 ehlers-danlos syndrome, hypermobility type 10.9 ANCR UBE3A
17 hypotonia-speech impairment-severe cognitive delay syndrome 10.8 ATP10A SNRPN UBE3A
18 breast cancer 10.8
19 lung cancer susceptibility 2 10.7
20 acute gonococcal salpingitis 10.7
21 mucopolysaccharidosis is 10.7
22 bronchitis 10.7
23 asperger syndrome 10.7
24 prostate cancer 10.7
25 lymphoma 10.7
26 cln14 disease 10.7 MBD4 MECP2 UBE3A
27 urethral stricture 10.6 GABRA5 GABRB3 NIPA2
28 epilepsy 10.3
29 early onset absence epilepsy 10.3 GABRA5 GABRB3
30 spinocerebellar degeneration 10.3 CDKL5 MECP2 UBE3A
31 panhypopituitarism, x-linked 10.3 CDKL5 SLC9A6
32 atypical autism 10.2 CDKL5 GABRB3 MECP2 UBE3A
33 akinetic mutism 10.2 CDKL5 MECP2
34 neuronitis 10.1
35 korsakoff's amnesic syndrome 10.1 MAGEL2 MECP2 UBE3A
36 corneal dystrophy, fuchs endothelial, 3 10.1 CDKL5 SLC9A6
37 encephalopathy, neonatal severe 10.1 CDKL5 MBD4 MECP2 UBE3A
38 ataxia 10.0
39 microcephaly 9.9
40 albinism 9.9
41 down syndrome 9.8
42 intellectual disability 9.8
43 sleep disorder 9.8
44 myoclonus 9.8
45 oculocutaneous albinism 9.8
46 isovaleric acidemia 9.6
47 pervasive developmental disorder 9.6
48 tyrosinemia 9.6
49 tremor 9.6
50 autism spectrum disorder 9.6

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:

54

Skeletal- Spine:
scoliosis

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

Head And Neck- Mouth:
macrostomia
protruding tongue
excessive drooling

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:
hypotonia
absent speech
hyperreflexia
developmental delay
seizures
more
Head And Neck- Head:
brachycephaly
microcephaly, postnatal
flat occiput
occipital groove

Head And Neck- Teeth:
widely spaced teeth

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:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 wide mouth 56 32 frequent (33%) Frequent (79-30%) HP:0000154
5 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 absent speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001344
7 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
8 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
9 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
11 cerebral cortical atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002120
12 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
13 widely spaced teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000687
14 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
15 blue irides 56 32 hallmark (90%) Very frequent (99-80%) HP:0000635
16 eeg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0002353
17 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
18 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
19 intellectual disability, progressive 56 32 hallmark (90%) Very frequent (99-80%) HP:0006887
20 hypoplasia of the maxilla 56 32 frequent (33%) Frequent (79-30%) HP:0000327
21 scoliosis 32 HP:0002650
22 nystagmus 32 HP:0000639
23 myopia 32 HP:0000545
24 global developmental delay 32 HP:0001263
25 intellectual disability 32 HP:0001249
26 hyperactivity 32 HP:0000752
27 truncal ataxia 32 HP:0002078
28 motor delay 32 HP:0001270
29 constipation 32 HP:0002019
30 sleep-wake cycle disturbance 32 HP:0006979
31 broad-based gait 32 hallmark (90%) HP:0002136
32 postnatal microcephaly 32 HP:0005484
33 obesity 32 HP:0001513
34 feeding difficulties in infancy 32 HP:0008872
35 protruding tongue 32 HP:0010808
36 drooling 32 HP:0002307
37 exotropia 32 HP:0000577
38 fair hair 32 HP:0002286
39 flat occiput 32 HP:0005469
40 progressive gait ataxia 32 HP:0007240
41 clumsiness 32 hallmark (90%) HP:0002312
42 limb tremor 32 HP:0200085
43 paroxysmal bursts of laughter 32 HP:0000749
44 neurological speech impairment 56 Very frequent (99-80%)
45 deeply set eye 32 HP:0000490
46 abnormality of the face 56 Very frequent (99-80%)
47 hypopigmentation of the skin 32 HP:0001010

UMLS symptoms related to Angelman Syndrome:


constipation, seizures

MGI Mouse Phenotypes related to Angelman Syndrome:

44
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2, Phase 3,Phase 1 28860-95-9 34359 38101
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 11953898 5460373 44475014
29
Betaine Approved, Nutraceutical 107-43-7 247
30
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
31
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32 Antacids
33 Anti-Ulcer Agents
34 Calcium, Dietary
35 Vitamins
36 Antimetabolites
37 Gastrointestinal Agents
38 Hematinics
39 Hypolipidemic Agents
40 Lipid Regulating Agents
41 Vitamin B 12
42 Vitamin B Complex
43
Cobalamin Nutraceutical 13408-78-1 6438156
44
Creatine Nutraceutical 57-00-1 586
45 Folate Nutraceutical
46
Methylcobalamin Experimental, Nutraceutical 13422-55-4
47 Vitamin B12 Nutraceutical
48 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 17)

id 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 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 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
8 Single Dose Pharmacokinetic (PK) Study Active, not recruiting NCT03109756 Phase 1 OV101
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 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:

id Genetic test Affiliating Genes
1 Angelman Syndrome 29 24 UBE3A

Anatomical Context for Angelman Syndrome

MalaCards organs/tissues related to Angelman Syndrome:

39
Tongue, Brain, Testes, Eye, Skin, Cortex, Cerebellum

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(show top 50) (show all 614)
id Title Authors Year
1
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
2
Enhanced nociception in Angelman syndrome model mice. ( 28931574 )
2017
3
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
4
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
5
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
6
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
7
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
8
Left ventricular dysfunction in a patient with Angelman syndrome. ( 28877039 )
2017
9
Main causes of hospitalization in people with Angelman syndrome. ( 28869323 )
2017
10
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
11
Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients. ( 28827041 )
2017
12
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. ( 28436452 )
2017
13
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene. ( 28898887 )
2017
14
Prevalence of gastrointestinal symptoms in Angelman syndrome. ( 28816003 )
2017
15
In vivo imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome. ( 28592637 )
2017
16
Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome. ( 28804447 )
2017
17
Sleep in children with Angelman syndrome: Parental concerns and priorities. ( 28844022 )
2017
18
Eye gaze and pupillary response in Angelman syndrome. ( 28750207 )
2017
19
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice. ( 28468997 )
2017
20
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
21
Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice. ( 28814801 )
2017
22
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice. ( 28663201 )
2017
23
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry. ( 28764722 )
2017
24
Rescue of altered HDAC activity recovers behavioural abnormalities in a mouse model of Angelman syndrome. ( 28576709 )
2017
25
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
26
A randomized controlled trial of levodopa in patients with Angelman syndrome. ( 28944563 )
2017
27
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. ( 28503211 )
2017
28
Sleep in Angelman syndrome: A review of evidence. ( 28784434 )
2017
29
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model. ( 27986596 )
2016
30
Pharmacological therapies for Angelman syndrome. ( 26758979 )
2016
31
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. ( 26727042 )
2016
32
Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. ( 26847597 )
2016
33
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. ( 27306933 )
2016
34
Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature. ( 27771696 )
2016
35
Analysis of peripheral amyloid precursor protein in Angelman Syndrome. ( 27327493 )
2016
36
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. ( 27535666 )
2016
37
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. ( 27323188 )
2016
38
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. ( 27232889 )
2016
39
Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto. ( 27380555 )
2016
40
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. ( 27990716 )
2016
41
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome. ( 26954797 )
2016
42
Angelman syndrome: Current and emerging therapies in 2016. ( 27860204 )
2016
43
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. ( 27006693 )
2016
44
Angelman syndrome - insights into a rare neurogenetic disorder. ( 27615419 )
2016
45
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. ( 27323320 )
2016
46
Genetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome. ( 27054611 )
2016
47
Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22. ( 27148405 )
2016
48
Reflex seizures in a patient with Angelman syndrome and trisomy 21. ( 26972081 )
2016
49
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
50
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome. ( 27581300 )
2016

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

6 (show top 50) (show all 144)
id Gene Variation Type Significance SNP ID Assembly Location
1 UBE3A UBE3A, 5-BP DUP duplication Pathogenic
2 UBE3A UBE3A, IVS9, A-G, -8 single nucleotide variant Pathogenic
3 UBE3A UBE3A, 2-BP DEL, 1344GT deletion Pathogenic
4 UBE3A NM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs111033594 GRCh37 Chromosome 15, 25616012: 25616012
5 UBE3A NM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter) single nucleotide variant Pathogenic rs111033595 GRCh37 Chromosome 15, 25585366: 25585366
6 UBE3A NM_130838.1(UBE3A): c.316A> C (p.Thr106Pro) single nucleotide variant Pathogenic rs111033596 GRCh37 Chromosome 15, 25616945: 25616945
7 UBE3A NM_130838.1(UBE3A): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic rs111033597 GRCh37 Chromosome 15, 25616872: 25616872
8 UBE3A UBE3A, 4-BP DEL, 3093AAGA deletion Pathogenic
9 UBE3A UBE3A, 2-BP DEL, 1930AG deletion Pathogenic
10 UBE3A UBE3A, 4-BP DUP, EX10, GAGG duplication Pathogenic
11 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
12 MECP2 NM_004992.3(MECP2): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs61750240 GRCh37 Chromosome X, 153296471: 153296471
13 MECP2 NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs) deletion Pathogenic rs267608434 GRCh37 Chromosome X, 153297867: 153297868
14 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
15 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
16 MECP2 NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter) single nucleotide variant Pathogenic rs61748396 GRCh37 Chromosome X, 153296856: 153296856
17 UBE3A UBE3A, 15-BP DEL/7-BP INS, NT3240 indel Pathogenic
18 MECP2 NM_004992.3(MECP2): c.806delG (p.Gly269Alafs) deletion Pathogenic rs61750241 GRCh37 Chromosome X, 153296473: 153296473
19 UBE3A NM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) indel Pathogenic rs398124438 GRCh37 Chromosome 15, 25615713: 25615714
20 UBE3A NM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs) deletion Pathogenic rs398124440 GRCh37 Chromosome 15, 25584337: 25584340
21 UBE3A NM_130838.1(UBE3A): c.275dupA (p.Lys93Glufs) duplication Pathogenic rs587780568 GRCh37 Chromosome 15, 25620638: 25620638
22 UBE3A NM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs) deletion Pathogenic rs587780569 GRCh38 Chromosome 15, 25375486: 25375489
23 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
24 UBE3A NM_130838.1(UBE3A): c.199_202dupAAAG (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh38 Chromosome 15, 25375564: 25375567
25 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
26 UBE3A NM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs) deletion Pathogenic rs587780570 GRCh38 Chromosome 15, 25371799: 25371802
27 UBE3A NM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs587780571 GRCh38 Chromosome 15, 25371751: 25371752
28 UBE3A NM_130838.1(UBE3A): c.403dupT (p.Ser135Phefs) duplication Pathogenic rs587780572 GRCh38 Chromosome 15, 25371711: 25371711
29 UBE3A NM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs) deletion Pathogenic rs587780573 GRCh37 Chromosome 15, 25616714: 25616714
30 UBE3A NM_130838.1(UBE3A): c.580dupA (p.Ser194Lysfs) duplication Pathogenic rs587780574 GRCh38 Chromosome 15, 25371534: 25371534
31 UBE3A NM_130838.1(UBE3A): c.688G> T (p.Glu230Ter) single nucleotide variant Pathogenic rs587780575 GRCh38 Chromosome 15, 25371426: 25371426
32 UBE3A NM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter) single nucleotide variant Pathogenic rs587780576 GRCh38 Chromosome 15, 25371397: 25371397
33 UBE3A NM_130838.1(UBE3A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587780577 GRCh38 Chromosome 15, 25405461: 25405461
34 UBE3A NM_130838.1(UBE3A): c.302-2A> T single nucleotide variant Pathogenic rs587780578 GRCh38 Chromosome 15, 25371814: 25371814
35 UBE3A NM_130838.1(UBE3A): c.1694-2A> G single nucleotide variant Pathogenic rs587780579 GRCh38 Chromosome 15, 25356898: 25356898
36 UBE3A NM_130838.1(UBE3A): c.2065-2A> C single nucleotide variant Pathogenic rs587780580 GRCh38 Chromosome 15, 25354685: 25354685
37 UBE3A NM_130838.1(UBE3A): c.2558A> T (p.Ter853Leu) single nucleotide variant Pathogenic rs76794400 GRCh38 Chromosome 15, 25339138: 25339138
38 UBE3A NM_130838.1(UBE3A): c.635A> T (p.Asp212Val) single nucleotide variant Pathogenic rs587780581 GRCh38 Chromosome 15, 25371479: 25371479
39 UBE3A NM_130838.1(UBE3A): c.710T> C (p.Leu237Pro) single nucleotide variant Pathogenic rs587780582 GRCh38 Chromosome 15, 25371404: 25371404
40 UBE3A NM_130838.1(UBE3A): c.788T> G (p.Leu263Trp) single nucleotide variant Pathogenic rs587780583 GRCh38 Chromosome 15, 25371326: 25371326
41 UBE3A NM_130838.1(UBE3A): c.1373C> T (p.Pro458Leu) single nucleotide variant Pathogenic rs587780584 GRCh38 Chromosome 15, 25370741: 25370741
42 UBE3A NM_130838.1(UBE3A): c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) deletion Pathogenic rs587780585 GRCh38 Chromosome 15, 25370735: 25370749
43 MECP2 NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs) deletion Pathogenic rs267608426 GRCh37 Chromosome X, 153297924: 153297927
44 MECP2 NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs) deletion Pathogenic rs63749748 GRCh37 Chromosome X, 153296079: 153296122
45 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
46 CDKL5 NM_003159.2(CDKL5): c.902_903dupGA (p.Leu302Aspfs) duplication Pathogenic rs267608546 GRCh37 Chromosome X, 18616658: 18616659
47 UBE3A NM_130838.1(UBE3A): c.750T> A (p.Tyr250Ter) single nucleotide variant Pathogenic rs587781190 GRCh38 Chromosome 15, 25371364: 25371364
48 UBE3A NM_130838.1(UBE3A): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587781191 GRCh38 Chromosome 15, 25371153: 25371153
49 UBE3A NM_130838.1(UBE3A): c.972_978delTACTTAT (p.Thr325Lysfs) deletion Pathogenic rs587781192 GRCh38 Chromosome 15, 25371136: 25371142
50 UBE3A NM_130838.1(UBE3A): c.1067dupA (p.Tyr356Terfs) duplication Pathogenic rs587781193 GRCh38 Chromosome 15, 25371047: 25371047

Copy number variations for Angelman Syndrome from CNVD:

7 (show all 13)
id 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

GO Terms for Angelman Syndrome

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

id 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)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 GABRA5 GABRB3 NIPA1 NIPA2 SLC9A6
2 negative regulation of neuron apoptotic process GO:0043524 9.61 GABRA5 GABRB3 MECP2
3 ion transmembrane transport GO:0034220 9.56 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 9.4 GABRA5 GABRB3
8 innervation GO:0060384 9.37 GABRA5 GABRB3
9 magnesium ion transmembrane transport GO:1903830 9.32 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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