AS
MCID: ANG001
MIFTS: 64

Angelman Syndrome (AS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Angelman Syndrome

MalaCards integrated aliases for Angelman Syndrome:

Name: Angelman Syndrome 57 11 24 19 42 52 58 75 73 28 12 53 5 43 14 38 71 33
As 57 19 42 73
Happy Puppet Syndrome 11 19 73
Happy Puppet Syndrome, Formerly 57
Puppetlike Syndrome 11

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

1-9/100000 (Worldwide, Europe, Europe, Australia, Spain, Spain, Estonia, United Kingdom) 1-5/10000 (Denmark) 1-9/1000000 (Denmark) 58

Age Of Onset:

Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
imprinted disorder
onset between 6 and 12 months of age
increased sensitivity to heat
incidence of 1 in 10,000 to 1 in 20,000
70% due to de novo maternal deletion of 15q11.2-q13
2% due to paternal uniparental disomy of 15q11.2-q13
2-3% due to imprinting defects
25% due to mutations in ube3a


GeneReviews:

24
Penetrance Ube3a pathogenic variants, imprinting center deletions, very small 15q11.2-q13 deletions that include ube3a [kuroda et al 2014], and certain chromosome translocations affecting the paternal allele may be non-penetrant (see figure 3).

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Angelman Syndrome

MedlinePlus Genetics: 42 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.Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual.With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

MalaCards based summary: Angelman Syndrome, also known as as, is related to prader-willi syndrome and angelman syndrome due to imprinting defect in 15q11-q13, 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 Prader-Willi and Angelman syndrome and Miscellaneous transport and binding events. The drugs Carbidopa and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and skin, and related phenotypes are eeg abnormality and ataxia

NINDS: 52 Angelman syndrome (AS) is a genetic disorder that causes neurological and psychological problems including seizures, difficult behaviors, movement disorders, and sleep problems.  Gastrointestinal, orthopedic, and eye problems also are often present.  Infants with AS appear normal at birth but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6-12 months.  Seizures often begin between 2-3 years of age and occur in 80-85 percent of those with AS.  Features that help define the syndrome include very happy demeanor with frequent laughter, poor balance, tremor, and minimal to no speech.  The disorder results from the absence of the UBE3A gene inherited from the mother.  The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system. There are four types of Angelman syndrome involving problems with chromosomes or mutations in the UBE3A gene.  Other children may have a genetic syndrome that looks like AS but is caused by a different gene.  Dr. Harry Angelman first reported the syndrome in 1965, when he described three children in his practice with similar symptoms.

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) (Updated 08-Dec-2022)

GARD: 19 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.

Orphanet: 58 A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.

Wikipedia: 75 Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous... more...

GeneReviews: NBK1144

Related Diseases for Angelman Syndrome

Diseases in the Angelman Syndrome family:

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

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 prader-willi syndrome 32.8 UBE3A SNURF SNRPN SNHG14 NPAP1 NIPA2
2 angelman syndrome due to imprinting defect in 15q11-q13 32.7 UBE3A SNRPN ATP10A
3 christianson syndrome 32.1 UBE3A SLC9A6 MECP2 CDKL5
4 autism spectrum disorder 31.8 UBE3A MECP2 MAGEL2 GABRG3 GABRB3 GABRA5
5 strabismus 31.4 SNRPN MKRN3 MECP2 MAGEL2
6 autism 31.2 UBE3A SNRPN SLC9A6 NDN MECP2 MAGEL2
7 chromosome 15q11-q13 duplication syndrome 31.2 UBE3A ANCR
8 attention deficit-hyperactivity disorder 30.9 UBE3A NIPA2 NIPA1 MECP2 GABRB3
9 epilepsy 30.9 UBE3A TPP1 SLC9A6 MECP2 GABRB3 CDKL5
10 childhood absence epilepsy 30.8 UBE3A NIPA2 NIPA1 MECP2 GABRG3 GABRB3
11 west syndrome 30.7 UBE3A SLC9A6 MECP2 GABRB3 CDKL5
12 lennox-gastaut syndrome 30.6 MECP2 GABRB3 GABRA5 CDKL5
13 rett syndrome 30.6 UBE3A MECP2 GABRB3 CDKL5
14 chromosomal disease 30.6 UBE3A SNRPN NPAP1 NIPA2 NDN MKRN3
15 schaaf-yang syndrome 30.6 UBE3A SNRPN NPAP1 NDN MKRN3 MAGEL2
16 chromosome 15q13.3 deletion syndrome 30.6 UBE3A NPAP1 NIPA2 NIPA1 MAGEL2
17 central precocious puberty 30.5 NDN MKRN3 MAGEL2
18 chromosome 15q11.2 deletion syndrome 30.4 NIPA2 NIPA1
19 epilepsy, idiopathic generalized 30.4 GABRB3 GABRA5 CDKL5
20 focal epilepsy 30.3 MECP2 GABRA5 CDKL5
21 pervasive developmental disorder 30.2 UBE3A MECP2 GABRB3 GABRA5 CDKL5
22 pitt-hopkins syndrome 30.2 UBE3A SLC9A6 MECP2 CDKL5
23 dravet syndrome 30.1 MECP2 GABRB3 GABRA5 CDKL5
24 early infantile epileptic encephalopathy 30.1 SLC9A6 MECP2 GABRB3 CDKL5
25 alcohol-related neurodevelopmental disorder 30.0 MECP2 CDKL5
26 angelman syndrome due to maternal 15q11q13 deletion 11.3
27 angelman syndrome due to paternal uniparental disomy of chromosome 15 11.2
28 mbd5 haploinsufficiency 11.2
29 intellectual developmental disorder, x-linked, syndromic, christianson type 11.1
30 angelman syndrome due to a point mutation 11.0
31 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 11.0
32 partial deletion of the long arm of chromosome 15 11.0
33 mosaic genome-wide paternal uniparental disomy 11.0
34 paternal uniparental disomy 10.8
35 microcephaly 10.7
36 cerebellar atrophy, developmental delay, and seizures 10.6
37 childhood disintegrative disease 10.6 UBE3A MECP2 GABRB3
38 beckwith-wiedemann syndrome 10.6 UBE3A SNRPN NDN MKRN3 MECP2 MAGEL2
39 precocious puberty, central, 2 10.5 UBE3A SNRPN MKRN3 MAGEL2
40 temple syndrome 10.5 SNRPN NPAP1 NDN MKRN3 MAGEL2
41 prader-willi syndrome due to paternal deletion of 15q11q13 type 2 10.5 SNRPN NDN MAGEL2
42 prader-willi syndrome due to paternal deletion of 15q11q13 type 1 10.5 SNRPN NDN MAGEL2
43 silver-russell syndrome 1 10.5 UBE3A SNRPN NDN MAGEL2
44 cryptorchidism, unilateral or bilateral 10.5 SNRPN NPAP1 NDN MKRN3 MAGEL2
45 esotropia 10.5 SNRPN SLC9A6 MKRN3
46 kagami-ogata syndrome 10.5 SNRPN NPAP1 MKRN3
47 hypotonia 10.5
48 cataract 25 10.5 NIPA2 NIPA1
49 dilution, pigmentary 10.5
50 asperger syndrome 10.5 MECP2 GABRG3 GABRB3

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



Diseases related to Angelman Syndrome

Symptoms & Phenotypes for Angelman Syndrome

Human phenotypes related to Angelman Syndrome:

58 30 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
2 ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001251
3 tremor 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001337
4 self-injurious behavior 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100716
5 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
6 intellectual disability, severe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010864
7 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
8 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
9 severe global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011344
10 broad-based gait 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002136
11 autistic behavior 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000729
12 hyperactivity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000752
13 poor speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002465
14 inappropriate laughter 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000748
15 clumsiness 30 Hallmark (90%) HP:0002312
16 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
17 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
18 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
19 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
20 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
21 obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001513
22 protruding tongue 58 30 Frequent (33%) Frequent (79-30%)
HP:0010808
23 wide mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000154
24 astigmatism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000483
25 iris hypopigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007730
26 hypopigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001010
27 polyphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002591
28 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
29 fair hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002286
30 drooling 58 30 Frequent (33%) Frequent (79-30%)
HP:0002307
31 sleep-wake cycle disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0006979
32 recurrent hand flapping 58 30 Frequent (33%) Frequent (79-30%)
HP:0100023
33 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
34 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
35 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
36 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
37 widely spaced teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000687
38 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
39 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002013
40 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
41 absent speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001344
42 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
43 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
44 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
45 flat occiput 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005469
46 keratoconus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000563
47 optic disc pallor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000543
48 poor eye contact 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000817
49 status epilepticus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002133
50 poor suck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002033

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
hypotonia
absent speech
seizures
developmental delay
more
Abdomen Gastrointestinal:
constipation
feeding difficulties in neonatal period
excessive chewing/mouthing behaviors
abnormal food-related behaviors

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)

Skeletal Spine:
scoliosis

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 (Updated 08-Dec-2022)

UMLS symptoms related to Angelman Syndrome:


constipation; seizures; tremor, limb

Drugs & Therapeutics for Angelman Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2, Phase 3 28860-95-9 34359 38101
2
Levodopa Approved Phase 2, Phase 3 59-92-7, 63-84-3 6047
3
Dopamine Approved Phase 2, Phase 3 62-31-7, 51-61-6 681
4
Gaboxadol Investigational Phase 3 64603-91-4 3448
5 Dihydroxyphenylalanine Phase 2, Phase 3
6 Carbidopa, levodopa drug combination Phase 2, Phase 3
7 Dopamine Agents Phase 2, Phase 3
8 Antiparkinson Agents Phase 2, Phase 3
9 Neurotransmitter Agents Phase 3
10 Anticonvulsants Phase 3
11 GABA Agonists Phase 3
12 Analgesics Phase 3
13
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
14 Anti-Bacterial Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Pharmaceutical Solutions Phase 2
17 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1
18
Tetracycline Approved, Vet_approved, Withdrawn 60-54-8 5353990
19
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
20
Polyestradiol phosphate Approved 28014-46-2
21
Mecobalamin Approved, Investigational 13422-55-4
22
Hydroxocobalamin Approved 13422-51-0 15589840 44475014
23
Coal tar Approved 8007-45-2
24
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
25
N,N,N-trimethylglycinium Approved, Experimental, Investigational, Nutraceutical 6915-17-9, 107-43-7 248
26
Cyanocobalamin Approved, Nutraceutical 68-19-9 24892734 16212801 44176380
27
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
28
Cobalamin Experimental 13408-78-1 6857388
29 Anti-Ulcer Agents
30 Antacids
31 Calcium, Dietary
32 Estradiol 3-benzoate
33 Estradiol 17 beta-cypionate
34 Anesthetics Early Phase 1
35 Folate
36 Vitamins
37 Vitamin B9
38 Trace Elements
39 Antimetabolites
40 Vitamin B12
41 Vitamin B Complex
42 Vitamin B 12
43 Hypolipidemic Agents
44 Lipid Regulating Agents
45 Gastrointestinal Agents
46 Hematinics
47 Micronutrients
48
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase 3 Study to Evaluate the Efficacy and Safety of OV101 in Pediatric Individuals With Angelman Syndrome Completed NCT04106557 Phase 3 Gaboxadol;Placebo
2 A Phase 2 Randomized Placebo-Controlled Trial of Levodopa in Angelman Syndrome Completed NCT01281475 Phase 2, Phase 3 Levodopa;Placebo Oral Capsule
3 An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome Terminated NCT03882918 Phase 3 OV101
4 Randomized Clinical Trial, Placebo Compared to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome Completed NCT02056665 Phase 2 MINOCYCLINE;PLACEBO (for Minocycline)
5 A Phase 2 Adult and Adolescent Angelman Syndrome Clinical Trial: A Randomized, Double-Blind, Safety and Efficacy Study of Gaboxadol Completed NCT02996305 Phase 2 OV101 Regimen 1;OV101 regimen 2
6 A Phase 1/2 Open-label, Multiple-dose, Dose-escalating Clinical Trial of the Safety and Tolerability of GTX-102 in Pediatric Patients With Angelman Syndrome (AS) Recruiting NCT04259281 Phase 1, Phase 2 GTX-102
7 HALOS: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION582 in Patients With Angelman Syndrome Recruiting NCT05127226 Phase 1, Phase 2 ION582
8 An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome Recruiting NCT05011851 Phase 2 NNZ-2591
9 A Phase IIa Multicenter, Open-Label, 12-Week Study to Investigate the Pharmacokinetics and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype Not yet recruiting NCT05630066 Phase 2 60 mg QD Alogabat;40 mg QD Alogabat;7 mg QD Alogabat;Part 2 Adult Alogabat High Dose (aged 15-17);Alogabat;Aligabat
10 A Dose-escalation Tolerability Study of Levodopa/Carbidopa in Angelman Syndrome Completed NCT00829439 Phase 1 Levodopa/Carbidopa (4:1)
11 A Phase 1 Single Dose PK Study in Adolescent Subjects With Fragile X Syndrome or Angelman Syndrome Completed NCT03109756 Phase 1 OV101
12 A Non-Randomized, Open-Label, Adaptive, Single Center, Positron Emission Tomography (Pet) Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants Completed NCT04863794 Phase 1 RO7248824
13 An Open-Label, Multicenter Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome Recruiting NCT04428281 Phase 1 RO7248824
14 The Efficacy of Minocycline in the Treatment of Angelman Syndrome Unknown status NCT01531582 minocycline
15 Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi Completed NCT02670694
16 Study on the Brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data Completed NCT03358823
17 A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome Completed NCT04103333 Early Phase 1
18 Parent-child Interaction and Communication in Families Who Have a Child With Rett Syndrome or Angelman Syndrome Completed NCT03720028
19 Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome Completed NCT00348933 Betaine;Creatine;Metafolin;Vitamin B12
20 Angelman Syndrome Natural History Study Completed NCT00296764
21 Evaluation of the Safety and Tolerability of a Nutritional Formulation in Angelman Syndrome Completed NCT03644693
22 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
23 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
24 Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome Completed NCT03235037 Levodopa
25 A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK) Recruiting NCT05100810
26 Angelman Syndrome Video Assessment (ASVA) Source Material Study Recruiting NCT05637697
27 The Global Angelman Syndrome Registry Recruiting NCT05293184
28 Angelman Syndrome Natural History Study Recruiting NCT04507997
29 Italian Angelman Syndrome Registry Protocol Active, not recruiting NCT03650569
30 Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders Enrolling by invitation NCT03836300
31 Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity Not yet recruiting NCT04768803

Search NIH Clinical Center for Angelman Syndrome

Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

Genetic tests related to Angelman Syndrome:

# Genetic test Affiliating Genes
1 Angelman Syndrome 28 SNRPN UBE3A

Anatomical Context for Angelman Syndrome

Organs/tissues related to Angelman Syndrome:

MalaCards : Tongue, Eye, Skin, Brain, Cortex, Olfactory Bulb, Prefrontal Cortex

Publications for Angelman Syndrome

Articles related to Angelman Syndrome:

(show top 50) (show all 1690)
# Title Authors PMID Year
1
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 53 62 57 5
20034088 2010
2
Discordant phenotypes in first cousins with UBE3A frameshift mutation. 53 62 57 5
15150776 2004
3
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. 53 62 57 5
12210318 2002
4
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 53 62 57 5
8988172 1997
5
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. 53 62 24 57
15385437 2004
6
Transmission of Angelman syndrome by an affected mother. 53 62 24 57
11258627 1999
7
UBE3A/E6-AP mutations cause Angelman syndrome. 62 57 5
8988171 1997
8
Angelman syndrome in adulthood. 62 24 57
25428759 2015
9
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2. 62 24 5
25099823 2014
10
Ophthalmic findings in Angelman syndrome. 62 24 57
21596294 2011
11
Angelman syndrome: Mutations influence features in early childhood. 62 24 57
21204213 2011
12
Angelman syndrome 2005: updated consensus for diagnostic criteria. 62 24 57
16470747 2006
13
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. 62 24 57
12668608 2003
14
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 62 24 57
11748306 2001
15
Disruption of the bipartite imprinting center in a family with Angelman syndrome. 62 24 57
11283796 2001
16
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. 62 24 57
10417280 1999
17
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. 62 24 57
9973277 1999
18
Clinical profile of Angelman syndrome at different ages. 62 24 57
7625442 1995
19
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. 62 24 57
7684188 1993
20
The EEG in early diagnosis of the Angelman (happy puppet) syndrome. 62 24 57
3409926 1988
21
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 53 62 5
19213023 2009
22
A Drosophila model for Angelman syndrome. 53 62 57
18701717 2008
23
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. 53 62 57
15470370 2004
24
UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis. 53 62 5
15054837 2004
25
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 53 62 5
11283202 2001
26
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. 53 62 5
10647895 1999
27
The spectrum of mutations in UBE3A causing Angelman syndrome. 53 62 5
9887341 1999
28
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. 53 62 5
9792887 1998
29
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. 53 62 5
9600250 1998
30
Angelman syndrome: correlations between epilepsy phenotypes and genotypes. 53 62 57
9546330 1998
31
The elusive Angelman syndrome critical region. 53 62 57
9321755 1997
32
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. 24 57
7795645 1995
33
Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA. 62 57
33087932 2020
34
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. 62 5
29737008 2018
35
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. 62 5
26255772 2015
36
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. 62 57
25470045 2015
37
Mutation Update for UBE3A variants in Angelman syndrome. 62 5
25212744 2014
38
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. 62 57
22190039 2011
39
Angelman syndrome (AS, MIM 105830). 62 57
19455185 2009
40
Mechanisms of imprinting of the Prader-Willi/Angelman region. 62 57
18627066 2008
41
Angelman syndrome caused by an identical familial 1,487-kb deletion. 62 57
17152063 2007
42
Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. 62 57
16401744 2006
43
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. 53 62 24
16100729 2005
44
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. 62 57
15805153 2005
45
Cognitive and adaptive behavior profiles of children with Angelman syndrome. 53 62 24
15213998 2004
46
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. 62 57
12549484 2003
47
Clinical, cytogenetical and molecular analyses of Angelman syndrome. 62 5
12725589 2003
48
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 62 57
12376950 2002
49
Intracytoplasmic sperm injection may increase the risk of imprinting defects. 62 57
12016591 2002
50
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. 62 57
11977186 2002

Variations for Angelman Syndrome

ClinVar genetic disease variations for Angelman Syndrome:

5 (show top 50) (show all 500)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) MICROSAT Pathogenic
143838 rs267608546 GRCh37: X:18616654-18616655
GRCh38: X:18598534-18598535
2 SNHG14, UBE3A NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter) SNV Pathogenic
155941 rs587781190 GRCh37: 15:25616511-25616511
GRCh38: 15:25371364-25371364
3 SNHG14, UBE3A NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter) SNV Pathogenic
155942 rs587781191 GRCh37: 15:25616300-25616300
GRCh38: 15:25371153-25371153
4 SNHG14, UBE3A NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) DEL Pathogenic
155943 rs587781192 GRCh37: 15:25616283-25616289
GRCh38: 15:25371136-25371142
5 SNHG14, UBE3A NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter) DUP Pathogenic
155944 rs587781193 GRCh37: 15:25616193-25616194
GRCh38: 15:25371046-25371047
6 SNHG14, UBE3A NM_130839.5(UBE3A):c.1136dup (p.Asn379fs) DUP Pathogenic
155945 rs587781194 GRCh37: 15:25616184-25616185
GRCh38: 15:25371037-25371038
7 SNHG14, UBE3A NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter) SNV Pathogenic
155946 rs587781195 GRCh37: 15:25616147-25616147
GRCh38: 15:25371000-25371000
8 SNHG14, UBE3A NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) SNV Pathogenic
155947 rs587781196 GRCh37: 15:25616060-25616060
GRCh38: 15:25370913-25370913
9 SNHG14, UBE3A NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter) SNV Pathogenic
155948 rs587781197 GRCh37: 15:25615991-25615991
GRCh38: 15:25370844-25370844
10 SNHG14, UBE3A NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter) SNV Pathogenic
155949 rs587781198 GRCh37: 15:25615976-25615976
GRCh38: 15:25370829-25370829
11 SNHG14, UBE3A NM_130839.5(UBE3A):c.1415dup (p.Ser473fs) DUP Pathogenic
155950 rs587781199 GRCh37: 15:25615905-25615906
GRCh38: 15:25370758-25370759
12 SNHG14, UBE3A NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs) DEL Pathogenic
155951 rs587781200 GRCh37: 15:25615899-25615900
GRCh38: 15:25370752-25370753
13 SNHG14, UBE3A NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter) SNV Pathogenic
155952 rs587781201 GRCh37: 15:25615890-25615890
GRCh38: 15:25370743-25370743
14 SNHG14, UBE3A NM_130839.5(UBE3A):c.1447del (p.Ala483fs) DEL Pathogenic
155953 rs587781202 GRCh37: 15:25615874-25615874
GRCh38: 15:25370727-25370727
15 SNHG14, UBE3A NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs) DEL Pathogenic
155954 rs587781203 GRCh37: 15:25615755-25615756
GRCh38: 15:25370608-25370609
16 SNHG14, UBE3A NM_130839.5(UBE3A):c.1631dup (p.Asn544fs) DUP Pathogenic
155956 rs587781205 GRCh37: 15:25605651-25605652
GRCh38: 15:25360504-25360505
17 SNHG14, UBE3A NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter) DUP Pathogenic
155957 rs587781206 GRCh37: 15:25605614-25605615
GRCh38: 15:25360467-25360468
18 SNHG14, UBE3A NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs) DUP Pathogenic
155958 rs587781207 GRCh37: 15:25605580-25605581
GRCh38: 15:25360433-25360434
19 SNHG14, UBE3A NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs) DEL Pathogenic
155960 rs587781209 GRCh37: 15:25601913-25601923
GRCh38: 15:25356766-25356776
20 SNHG14, UBE3A NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs) MICROSAT Pathogenic
155961 rs587781210 GRCh37: 15:25601190-25601191
GRCh38: 15:25356043-25356044
21 SNHG14, UBE3A NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs) DEL Pathogenic
155962 rs587781211 GRCh37: 15:25601140-25601147
GRCh38: 15:25355993-25356000
22 SNHG14, UBE3A NM_130839.5(UBE3A):c.2017dup (p.Met673fs) DUP Pathogenic
155963 rs587781212 GRCh37: 15:25601145-25601146
GRCh38: 15:25355998-25355999
23 SNHG14, UBE3A NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) SNV Pathogenic
155964 rs587781213 GRCh37: 15:25601131-25601131
GRCh38: 15:25355984-25355984
24 SNHG14, UBE3A NM_130839.5(UBE3A):c.2032del (p.Gln678fs) DEL Pathogenic
155965 rs587781214 GRCh37: 15:25601131-25601131
GRCh38: 15:25355984-25355984
25 SNHG14, UBE3A NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs) INSERT Pathogenic
155966 rs587781215 GRCh37: 15:25599792-25599793
GRCh38: 15:25354645-25354646
26 SNHG14, UBE3A NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter) DUP Pathogenic
155967 rs587781216 GRCh37: 15:25599720-25599721
GRCh38: 15:25354573-25354574
27 SNHG14, UBE3A NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter) SNV Pathogenic
155968 rs587781217 GRCh37: 15:25599718-25599718
GRCh38: 15:25354571-25354571
28 SNHG14, UBE3A NM_130839.5(UBE3A):c.2246del (p.Pro749fs) DEL Pathogenic
155969 rs587781218 GRCh37: 15:25599709-25599709
GRCh38: 15:25354562-25354562
29 SNHG14, UBE3A NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter) SNV Pathogenic
155970 rs587781219 GRCh37: 15:25599561-25599561
GRCh38: 15:25354414-25354414
30 SNHG14, UBE3A NM_130839.5(UBE3A):c.2305del (p.Glu769fs) DEL Pathogenic
155972 rs587781221 GRCh37: 15:25599549-25599549
GRCh38: 15:25354402-25354402
31 SNHG14, UBE3A NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs) DUP Pathogenic
155973 rs587781222 GRCh37: 15:25599542-25599543
GRCh38: 15:25354395-25354396
32 SNHG14, UBE3A NM_130839.5(UBE3A):c.2349dup (p.Ile784fs) DUP Pathogenic
155974 rs587781223 GRCh37: 15:25599504-25599505
GRCh38: 15:25354357-25354358
33 SNHG14, UBE3A NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs) DEL Pathogenic
155975 rs587781224 GRCh37: 15:25585325-25585326
GRCh38: 15:25340178-25340179
34 SNHG14, UBE3A NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) DUP Pathogenic
155977 rs1555379745 GRCh37: 15:25584321-25584322
GRCh38: 15:25339174-25339175
35 SNHG14, UBE3A NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter) SNV Pathogenic
155978 rs587781226 GRCh37: 15:25584369-25584369
GRCh38: 15:25339222-25339222
36 SNHG14, UBE3A NM_130839.5(UBE3A):c.2538del (p.Pro847fs) DEL Pathogenic
155979 rs587781227 GRCh37: 15:25584365-25584365
GRCh38: 15:25339218-25339218
37 SNHG14, UBE3A NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs) DEL Pathogenic
155980 rs1555379684 GRCh37: 15:25584289-25584356
GRCh38: 15:25339142-25339209
38 SNHG14, UBE3A NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) DUP Pathogenic
155982 rs587781229 GRCh37: 15:25584342-25584343
GRCh38: 15:25339195-25339196
39 SNHG14, UBE3A NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) DUP Pathogenic
155983 rs398124440 GRCh37: 15:25584336-25584337
GRCh38: 15:25339189-25339190
40 SNHG14, UBE3A NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) SNV Pathogenic
155986 rs587781233 GRCh37: 15:25605590-25605590
GRCh38: 15:25360443-25360443
41 SNHG14, UBE3A NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln) SNV Pathogenic
155988 rs587781235 GRCh37: 15:25601987-25601987
GRCh38: 15:25356840-25356840
42 SNHG14, UBE3A NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile) SNV Pathogenic
155989 rs587781236 GRCh37: 15:25601136-25601136
GRCh38: 15:25355989-25355989
43 SNHG14, UBE3A NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys) SNV Pathogenic
155990 rs587781237 GRCh37: 15:25599826-25599826
GRCh38: 15:25354679-25354679
44 SNHG14, UBE3A NM_130839.5(UBE3A):c.159del (p.Cys54fs) DEL Pathogenic
136187 rs587780565 GRCh37: 15:25620814-25620814
GRCh38: 15:25375667-25375667
45 SNHG14, UBE3A NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs) DUP Pathogenic
136188 rs587780566 GRCh37: 15:25620710-25620711
GRCh38: 15:25375563-25375564
46 SNHG14, UBE3A NM_130839.5(UBE3A):c.323_324del (p.Ile108fs) DEL Pathogenic
136189 rs587780567 GRCh37: 15:25620649-25620650
GRCh38: 15:25375502-25375503
47 SNHG14, UBE3A NM_130839.5(UBE3A):c.335dup (p.Lys113fs) DUP Pathogenic
136190 rs587780568 GRCh37: 15:25620637-25620638
GRCh38: 15:25375490-25375491
48 SNHG14, UBE3A NM_130839.5(UBE3A):c.337_340del (p.Lys113fs) DEL Pathogenic
136191 rs587780569 GRCh37: 15:25620633-25620636
GRCh38: 15:25375486-25375489
49 SNHG14, UBE3A NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) MICROSAT Pathogenic
136193 rs587780571 GRCh37: 15:25616898-25616899
GRCh38: 15:25371751-25371752
50 SNHG14, UBE3A NM_130839.5(UBE3A):c.607del (p.Asp203fs) DEL Pathogenic
136195 rs587780573 GRCh37: 15:25616714-25616714
GRCh38: 15:25371567-25371567

Copy number variations for Angelman Syndrome from CNVD:

6 (show all 13)
# CNVD ID Chromosome 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 DLX4 Angelman syndrome
12 257071 15 20444124 20555044 Deletion CYFIP1 Angelman syndrome
13 257072 15 20384835 20425332 Deletion TUBGCP5 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:

# Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 9.43 GABRG3 GABRB3 GABRA5
2 GABA-A receptor complex GO:1902711 9.1 GABRG3 GABRB3 GABRA5

Biological processes related to Angelman Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monoatomic ion transmembrane transport GO:0034220 10.03 GABRG3 GABRB3 GABRA5 ATP10A
2 nervous system process GO:0050877 9.85 GABRG3 GABRB3 GABRA5
3 monoatomic ion transport GO:0006811 9.8 GABRA5 GABRB3 GABRG3 NIPA1 NIPA2 SLC9A6
4 magnesium ion transport GO:0015693 9.76 NIPA2 NIPA1
5 regulation of postsynaptic membrane potential GO:0060078 9.72 GABRG3 GABRB3 GABRA5
6 gamma-aminobutyric acid signaling pathway GO:0007214 9.63 GABRG3 GABRB3 GABRA5
7 chloride transport GO:0006821 9.58 GABRG3 GABRB3 GABRA5
8 excitatory postsynaptic potential GO:0060079 9.56 MECP2 GABRG3 GABRB3 GABRA5
9 synaptic transmission, GABAergic GO:0051932 9.1 GABRG3 GABRB3 GABRA5

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.93 GABRG3 GABRB3 GABRA5
2 chloride channel activity GO:0005254 9.91 GABRG3 GABRB3 GABRA5
3 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.8 GABRA5 GABRB3 GABRG3
4 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 9.73 GABRG3 GABRB3 GABRA5
5 benzodiazepine receptor activity GO:0008503 9.71 GABRG3 GABRA5
6 inhibitory extracellular ligand-gated monoatomic ion channel activity GO:0005237 9.67 GABRG3 GABRA5
7 GABA-A receptor activity GO:0004890 9.43 GABRG3 GABRB3 GABRA5
8 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.33 GABRG3 GABRB3 GABRA5
9 GABA-gated chloride ion channel activity GO:0022851 9.1 GABRG3 GABRB3 GABRA5

Sources for Angelman Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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