AS
MCID: ANG001
MIFTS: 61

Angelman Syndrome (AS) malady

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

Aliases & Classifications for Angelman Syndrome

Aliases & Descriptions for Angelman Syndrome:

Name: Angelman Syndrome 54 12 71 23 50 24 25 51 56 66 29 13 52 42 14 69
As 50 25 66
Happy Puppet Syndrome 12 66
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;

GeneReviews:

23
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


External Ids:

OMIM 54 105830
Disease Ontology 12 DOID:1932
ICD10 33 Q93.5
MeSH 42 D017204
NCIt 47 C75462
SNOMED-CT 64 76880004
Orphanet 56 ORPHA72
MESH via Orphanet 43 D017204
UMLS via Orphanet 70 C0162635
ICD10 via Orphanet 34 Q93.5
MedGen 40 C0162635
UMLS 69 C0162635

Summaries for Angelman Syndrome

OMIM : 54 Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder,... (105830) more...

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 1, 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and testes, and related phenotype is nervous system.

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

UniProtKB/Swiss-Prot : 66 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.

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.

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.

Wikipedia : 71 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 93)
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 1 11.8
3 smoking as a quantitative trait locus 2 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 acute gonococcal salpingitis 10.7
17 mucopolysaccharidosis is 10.7
18 lung cancer susceptibility 2 10.7
19 bronchitis 10.7
20 breast cancer 10.7
21 prostate cancer 10.7
22 lymphoma 10.7
23 melanoma 10.6
24 schizophrenia 10.6
25 asperger syndrome 10.6
26 alzheimer disease 10.6
27 eclampsia 10.6
28 essential tremor 10.6
29 foot drop 10.6
30 lung cancer 10.6
31 mercury poisoning 10.6
32 asthma 10.6
33 renal cell carcinoma 10.6
34 fatty liver disease 10.6
35 stiff-person syndrome 10.6
36 rickets 10.6
37 homozygous familial hypercholesterolemia 10.3 ATP10A SNRPN UBE3A
38 epilepsy 10.3
39 actinic prurigo polymorphic light eruption, hereditary 10.3 ANCR UBE3A
40 coasy-associated neurodegeneration 10.3 MBD4 MECP2 UBE3A
41 bartter disease 10.2 GABRA5 GABRB3 MECP2 SNRPN UBE3A
42 neuronitis 10.1
43 encephalitozoonosis 10.1 CDKL5 MECP2
44 urethral stricture 10.1 GABRA5 GABRB3 NIPA2
45 panhypopituitarism, x-linked 10.1 CDKL5 SLC9A6
46 sexual disorder 10.0 CDKL5 GABRB3 MECP2 UBE3A
47 encephalopathy, neonatal severe 10.0 CDKL5 GABRB3 MBD4 MECP2 UBE3A
48 ataxia 10.0
49 microcephaly 9.9
50 albinism 9.9

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



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Symptoms by clinical synopsis from OMIM:

105830

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

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 49)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 1 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 2, Phase 3,Phase 1 59-92-7 6047
3
Carbidopa Approved Phase 2, Phase 3,Phase 1 28860-95-9 34359 38101
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 73-31-4 896
5 Neurotransmitter Agents Phase 2, Phase 3,Phase 1
6 Dihydroxyphenylalanine Phase 2, Phase 3,Phase 1
7 Dopamine Agents Phase 2, Phase 3,Phase 1
8 Protective Agents Phase 3,Phase 1
9 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3,Phase 1
10 Antioxidants Phase 3,Phase 1
11 Carbidopa, levodopa drug combination Phase 2, Phase 3,Phase 1
12 Antiparkinson Agents Phase 2, Phase 3,Phase 1
13 Central Nervous System Depressants 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 Trace Elements Phase 2
19 Micronutrients Phase 2
20 Analgesics Phase 2
21 GABA Agents Phase 2
22 GABA Agonists Phase 2
23 Peripheral Nervous System Agents Phase 2
24 Anticonvulsants Phase 2
25 Dopamine agonists Phase 1
26 Adjuvants, Immunologic 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
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
31
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
32
Creatine Approved, Nutraceutical 57-00-1 586
33 Antacids
34 Vitamins
35 Anti-Ulcer Agents
36 Calcium, Dietary
37 Chelating Agents
38 Gastrointestinal Agents
39 Hematinics
40 Vitamin B 12
41 Vitamin B Complex
42 Hypolipidemic Agents
43 Lipid Regulating Agents
44 Antimetabolites
45 Folate Nutraceutical
46 Vitamin B12 Nutraceutical
47
Cobalamin Nutraceutical 13408-78-1 6438156
48
Methylcobalamin Experimental, Nutraceutical 13422-55-4
49 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 A Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3
2 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Active, not recruiting NCT01906866 Phase 3
3 Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2
4 A Study in Adults With Angelman Syndrome Recruiting NCT02996305 Phase 2
5 An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder Withdrawn NCT02226458 Phase 2
6 Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome Completed NCT00829439 Phase 1
7 Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1
8 Single Dose Pharmacokinetic (PK) Study Recruiting NCT03109756 Phase 1
9 Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582
10 Dietary Supplements for the Treatment of Angelman Syndrome Completed NCT00348933
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 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
17 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
18 Characterization of Angelman Syndrome Active, not recruiting NCT00296764

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 598)
id Title Authors Year
1
Angelman Syndrome: Identification and Management. ( 28494826 )
2017
2
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome. ( 28487808 )
2017
3
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a. ( 28326016 )
2017
4
Hypersociability in the Angelman syndrome mouse model. ( 28411125 )
2017
5
Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. ( 28503211 )
2017
6
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice. ( 28468997 )
2017
7
Incontinence in persons with Angelman syndrome. ( 28000035 )
2017
8
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells. ( 28436452 )
2017
9
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome. ( 28384804 )
2017
10
Angelman syndrome and anaesthetic considerations. ( 28216711 )
2017
11
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. ( 28211971 )
2017
12
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
13
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome. ( 26954797 )
2016
14
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report. ( 26952234 )
2016
15
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model. ( 27986596 )
2016
16
Angelman syndrome - insights into a rare neurogenetic disorder. ( 27615419 )
2016
17
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. ( 27990716 )
2016
18
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model. ( 27546058 )
2016
19
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. ( 27323188 )
2016
20
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
21
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. ( 26841067 )
2016
22
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
23
Angelman Syndrome: A Case Report. ( 27247589 )
2016
24
Pharmacological therapies for Angelman syndrome. ( 26758979 )
2016
25
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. ( 27232889 )
2016
26
Genetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome. ( 27054611 )
2016
27
Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. ( 27206232 )
2016
28
Reflex seizures in a patient with Angelman syndrome and trisomy 21. ( 26972081 )
2016
29
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. ( 27306933 )
2016
30
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. ( 27323320 )
2016
31
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. ( 27174604 )
2016
32
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome. ( 27581300 )
2016
33
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. ( 27021170 )
2016
34
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice. ( 27173058 )
2016
35
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. ( 27535666 )
2016
36
Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. ( 26847597 )
2016
37
Analysis of peripheral amyloid precursor protein in Angelman Syndrome. ( 27327493 )
2016
38
Angelman syndrome: Current and emerging therapies in 2016. ( 27860204 )
2016
39
Angelman syndrome in an infant boy. ( 27575902 )
2016
40
Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto. ( 27380555 )
2016
41
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. ( 27484051 )
2016
42
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. ( 27006693 )
2016
43
Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. ( 27769316 )
2016
44
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. ( 26727042 )
2016
45
From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. ( 27626634 )
2016
46
Toward a broader view of ube3a in a mouse model of angelman syndrome: expression in brain, spinal cord, sciatic nerve and glial cells. ( 25894543 )
2015
47
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice. ( 26658871 )
2015
48
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. ( 25899869 )
2015
49
Angelman Syndrome: A Review Highlighting Musculoskeletal and Anatomical Aberrations. ( 26480021 )
2015
50
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy. ( 26559560 )
2015

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.199_202dupAAAG (p.Gly68Glufs) duplication Pathogenic rs587780566 GRCh37 Chromosome 15, 25620711: 25620714
22 UBE3A NM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs) deletion Pathogenic rs587780567 GRCh38 Chromosome 15, 25375502: 25375503
23 UBE3A NM_130838.1(UBE3A): c.275dupA (p.Lys93Glufs) duplication Pathogenic rs587780568 GRCh38 Chromosome 15, 25375491: 25375491
24 UBE3A NM_130838.1(UBE3A): c.99delC (p.Cys34Valfs) deletion Pathogenic rs587780565 GRCh38 Chromosome 15, 25375667: 25375667
25 UBE3A NM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs) deletion Pathogenic rs587780569 GRCh38 Chromosome 15, 25375486: 25375489
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 11)
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 9.65 GABRA5 GABRB3 MECP2
3 ion transmembrane transport GO:0034220 9.56 ATP10A GABRA5 GABRB3 RPS27A
4 gamma-aminobutyric acid signaling pathway GO:0007214 9.49 GABRA5 GABRB3
5 axon extension GO:0048675 9.43 NDN SLC9A6
6 regulation of neuron apoptotic process GO:0043523 9.4 GABRA5 GABRB3
7 innervation GO:0060384 9.37 GABRA5 GABRB3
8 magnesium ion transmembrane transport GO:1903830 9.32 NIPA1 NIPA2
9 magnesium ion transport GO:0015693 9.16 NIPA1 NIPA2
10 inner ear receptor cell development GO:0060119 8.96 GABRA5 GABRB3
11 neuron development GO:0048666 8.8 GABRA5 GABRB3 NDN

Molecular functions related to Angelman Syndrome according to GeneCards Suite gene sharing:

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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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