MCID: ANG001
MIFTS: 61

Angelman Syndrome malady

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

Aliases & Classifications for Angelman Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Angelman Syndrome:

Name: Angelman Syndrome 52 11 71 23 48 24 25 49 54 70 27 12 50 39 13 68
As 48 25 70
 
Happy Puppet Syndrome 11 70
Puppetlike Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
angelman syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy

HPO:

64
angelman syndrome:
Inheritance: sporadic, autosomal dominant inheritance

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:



External Ids:

OMIM52 105830
Disease Ontology11 DOID:1932
ICD1030 Q93.5
MeSH39 D017204
NCIt45 C75462
SNOMED-CT62 76880004
Orphanet54 ORPHA72
MESH via Orphanet40 D017204
UMLS via Orphanet69 C0162635
ICD10 via Orphanet31 Q93.5
MedGen37 C0162635

Summaries for Angelman Syndrome

About this section
OMIM:52 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 abnormality of the tongue, mandibular prognathia and behavioral abnormality. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways are Miscellaneous transport and binding events and Synaptic Neurotransmission Pathways: GABAergic Inhibition. Affiliated tissues include tongue, testes and brain, and related mouse phenotype 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:48 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:49 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

UniProtKB/Swiss-Prot:70 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:71 Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and... more...

GeneReviews for NBK1144

Related Diseases for Angelman Syndrome

About this section

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 94)
idRelated DiseaseScoreTop Affiliating Genes
1angelman syndrome due to paternal uniparental disomy of chromosome 1511.9
2smoking as a quantitative trait locus 111.8
3smoking as a quantitative trait locus 211.8
4angelman syndrome due to maternal 15q11q13 deletion11.8
5angelman syndrome due to a point mutation11.7
6angelman syndrome due to imprinting defect in 15q11-q1311.7
7prader-willi syndrome11.3
8osteochondrosis11.3
9antisynthetase syndrome11.2
10spondyloarthropathy 111.2
11hepatocellular carcinoma11.1
12aortic valve disease 211.1
13lip cancer11.0
14mbd5 haploinsufficiency10.9
15mental retardation, x-linked syndromic, christianson type10.9
16bronchitis10.7
17mucopolysaccharidosis is10.7
18goiter, multinodular 1, with or without sertoli-leydig cell tumors10.7
19lung cancer susceptibility 210.7
20acute gonococcal salpingitis10.7
21prostate cancer10.7
22breast cancer10.7
23lymphoma10.7
24schizophrenia10.7
25alzheimer disease10.7
26foot drop10.7
27proton-pump inhibitor-responsive esophageal eosinophilia10.7ATP10A, SNRPN, UBE3A
28eclampsia10.6
29asthma10.6
30lung cancer10.6
31stuttering10.6
32renal cell carcinoma10.6
33essential tremor10.6
34intracranial hypertension, idiopathic10.6ANCR, UBE3A
35colorectal cancer10.6
36nephrolithiasis10.6
37dementia10.6
38neuroblastoma10.6
39diarrhea10.6
40ring chromosome 310.5MBD4, MECP2
41clcn2-related juvenile myoclonic epilepsy10.5MBD4, MECP2, UBE3A
42epilepsy10.3
43idiopathic generalized epilepsy10.3GABRA5, GABRB3, NIPA2
44neuronitis10.1
45atypical autism10.1CDKL5, GABRB3, MECP2, UBE3A
46autoimmune-related retinopathy and optic neuropathy10.0CDKL5, GABRA5, GABRB3, MECP2, SNRPN
47ataxia10.0
48infantile hypotonia10.0MAGEL2, MECP2, UBE3A
49encephalopathy, neonatal severe9.9CDKL5, GABRB3, MBD4, MECP2, UBE3A
50intravascular angioleiomyoma9.9CDKL5, MECP2

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



Diseases related to angelman syndrome

Symptoms & Phenotypes for Angelman Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

105830

Clinical features from OMIM:

105830

Human phenotypes related to Angelman Syndrome:

 64 54 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tongue64 hallmark (90%) HP:0000157
2 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
3 behavioral abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0000708
4 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
6 cerebral cortical atrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0002120
7 broad-based gait64 hallmark (90%) HP:0002136
8 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
9 incoordination64 hallmark (90%) HP:0002311
10 clumsiness64 hallmark (90%) HP:0002312
11 eeg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0002353
12 cognitive impairment64 hallmark (90%) HP:0100543
13 wide mouth64 54 typical (50%) Frequent (79-30%) HP:0000154
14 abnormality of the teeth64 typical (50%) HP:0000164
15 malar flattening64 typical (50%) HP:0000272
16 hyperreflexia64 54 typical (50%) Frequent (79-30%) HP:0001347
17 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
18 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
19 microcephaly64 54 Very frequent (99-80%) HP:0000252
20 intellectual disability64 HP:0001249
21 truncal ataxia64 HP:0002078
22 macroglossia64 54 Very frequent (99-80%) HP:0000158
23 brachycephaly64 54 Very frequent (99-80%) HP:0000248
24 hypoplasia of the maxilla64 54 Frequent (79-30%) HP:0000327
25 deeply set eye64 HP:0000490
26 myopia64 HP:0000545
27 exotropia64 HP:0000577
28 blue irides64 54 Very frequent (99-80%) HP:0000635
29 nystagmus64 HP:0000639
30 widely spaced teeth64 54 Frequent (79-30%) HP:0000687
31 paroxysmal bursts of laughter64 HP:0000749
32 hyperactivity64 HP:0000752
33 hypopigmentation of the skin64 HP:0001010
34 global developmental delay64 HP:0001263
35 motor delay64 HP:0001270
36 absent speech64 54 Very frequent (99-80%) HP:0001344
37 obesity64 HP:0001513
38 constipation64 HP:0002019
39 fair hair64 HP:0002286
40 drooling64 HP:0002307
41 scoliosis64 HP:0002650
42 flat occiput64 HP:0005469
43 postnatal microcephaly64 HP:0005484
44 intellectual disability, progressive64 54 Very frequent (99-80%) HP:0006887
45 sleep-wake cycle disturbance64 HP:0006979
46 progressive gait ataxia64 HP:0007240
47 feeding difficulties in infancy64 HP:0008872
48 protruding tongue64 HP:0010808
49 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
50 limb tremor64 HP:0200085
51 inguinal hernia54 Occasional (29-5%)
52 abnormality of the face54 Very frequent (99-80%)
53 ataxia54 Very frequent (99-80%)

UMLS symptoms related to Angelman Syndrome:


constipation, seizures, tremor, limb

MGI Mouse Phenotypes related to Angelman Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.0CDKL5, GABRA5, GABRB3, HUWE1, MAGEL2, MBD4

Drugs & Therapeutics for Angelman Syndrome

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

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarbidopaapprovedPhase 2, Phase 3, Phase 117728860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(αS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa, (S)-Isomer
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
 
Carbidopum
Carbidopum [INN-Latin]
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-3-(3,4-dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
L-α-methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopum monohydricum
2
LevodopaapprovedPhase 2, Phase 3, Phase 138859-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
3
DopamineapprovedPhase 2, Phase 3, Phase 1375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
4
Melatoninapproved, nutraceutical, vet_approvedPhase 3, Phase 125573-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
5Antiparkinson AgentsPhase 2, Phase 3, Phase 11527
6AntioxidantsPhase 3, Phase 12928
7Neurotransmitter AgentsPhase 2, Phase 3, Phase 117734
8Central Nervous System DepressantsPhase 3, Phase 112806
9Protective AgentsPhase 3, Phase 17190
10Dopamine AgentsPhase 2, Phase 3, Phase 13759
11Aromatic Amino Acid Decarboxylase InhibitorsPhase 2, Phase 3, Phase 1148
12Carbidopa, levodopa drug combinationPhase 2, Phase 3, Phase 1120
13DihydroxyphenylalaninePhase 2, Phase 3, Phase 1140
14
Minocyclineapproved, investigationalPhase 222410118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
HMS2090D03
HSDB 3130
 
LMPK07000002
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline (USAN/INN)
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
minociclinum
minocycline
nchembio.559-comp1
15
GaboxadolinvestigationalPhase 21664603-91-43448
Synonyms:
4,5,6,7-Tetrahydroisoxazole(5,4-c)pyridin-3-ol
4,5,6,7-Tetrahydroisoxazolo(5,4-c)pyridin-3-ol
4,5,6,7-tetrahydro-[1,2]oxazolo[5,4-c]pyridin-3-one
4,5,6,7-tetrahydroisoxazolo(5,4-c)pyridin-3-ol
64603-91-4
AB00053777
AC1L1FYK
BPBio1_000420
BPBio1_001105
BSPBio_001003
BSPBio_002256
Biomol-NT_000235
C015542
C13693
C6H8N2O2.H2O
CHEBI:232234
CHEMBL312443
CID3448
D04282
DivK1c_000211
EINECS 264-963-0
Gaboxadol (USAN/INN)
Gaboxadol [USAN:INN]
Gaboxadolum
Gaboxadolum [Latin]
IDI1_000211
Isoxazolo(5,4-c)pyridin-3(2H)-one, 4,5,6,7-tetrahydro-, hydrate
KBio1_000211
KBio2_001964
KBio2_004532
KBio2_007100
KBio3_001476
 
KBioGR_000683
KBioSS_001964
LS-86797
LU 2030
LU-2-030
Lopac-T-101
Lopac0_001233
Lu 02-030
Lu-02-030
MK-0928
NCGC00015982-01
NCGC00015982-02
NCGC00015982-06
NCGC00024801-01
NCGC00024801-02
NCGC00024801-03
NINDS_000211
Prestwick-13B03
Prestwick0_000972
Prestwick1_000972
Prestwick2_000972
Prestwick3_000972
SPBio_001560
SPBio_002914
Spectrum2_001590
Spectrum3_000728
Spectrum4_000172
Spectrum5_001907
Spectrum_001484
THIP
Tocris-0807
UNII-K1M5RVL18S
gaboxadol
16Anti-Infective AgentsPhase 221402
17Anti-Bacterial AgentsPhase 210884
18MicronutrientsPhase 25802
19Trace ElementsPhase 25802
20Peripheral Nervous System AgentsPhase 222776
21AnalgesicsPhase 211287
22AnticonvulsantsPhase 22620
23GABA AgentsPhase 21622
24GABA AgonistsPhase 2157
25Dopamine agonistsPhase 1618
26Adjuvants, ImmunologicPhase 12484
27
Tetracyclineapproved, vet_approved9960-54-85353990
Synonyms:
(-)-Tetracycline
(4S,4AS,5as,12as)-4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide
6-Methyl-1,11-dioxy-2-naphthacenecarboxamide
60-54-8
64-75-5 (mono-hydrochloride)
6591-49-7
87128_FLUKA
87128_SIGMA
AC-13151
AC1L1KAT
AC1NQXT7
AC1NRDAM
AC1NS4RQ
AC1NSDX8
AC1NTUT2
AC1NUZHL
AC1O52HS
Abramycin
Abricycline
Achromycin
Achromycin (naphthacene derivative)
Achromycin V
Achromycin, naphthacene derivative
Agromicina
Ambramicina
Ambramycin
Amycin
Anhydrotetracycline
BIDD:GT0653
BPBio1_000242
BSPBio_000220
BSPBio_001950
Bio-tetra
Biocycline
Bristaciclin
Bristaciclin .alpha.
Bristaciclina
Bristacycline
C06570
CHEBI:27902
CHEMBL1440
CID12309720
CID5280962
CID5289435
CID5353990
CID5359245
CID5388997
CID5412
CID5497101
CID6426717
Cefracycline
Cefracycline suspension
Centet (base)
Ciclibion
Copharlan
Criseociclina
Cyclomycin
Cyclopar
Cytome
D00201
DB00759
Democracin
Deschlorobiomycin
DivK1c_000827
Dumocyclin
EINECS 200-481-9
Enterocycline
HMS2090B04
HSDB 3188
Hostacyclin
IDI1_000827
KBio1_000827
KBio2_001514
KBio2_004082
KBio2_006650
KBio3_001450
KBioGR_000783
KBioSS_001514
LS-187078
LS-93869
Lemtrex (base)
Lexacycline
Limecycline
Liquamycin
Liquamycin (Veterinary)
 
Liquamycin, veterinary
MLS000069728
Medocycline
Mericycline
Micycline
MolPort-001-794-633
MolPort-003-983-460
MolPort-005-934-198
NCGC00161665-01
NINDS_000827
NSC 108579
NSC108579
Neocycline
Omegamycin
Orlycycline
Panmycin
Piracaps (base)
Polycycline
Polycycline (VAN)
Polycycline (antibiotic)
Polycycline, antibiotic
Polyotic
Prestwick0_000140
Prestwick1_000140
Prestwick2_000140
Prestwick3_000140
Purocyclina
Resteclin
Robitet
Roviciclina
SK-Tetracycline
SMR000058220
SPBio_001457
SPBio_002159
STOCK1N-42738
Sanclomycine
Solvocin
Spectrum2_001329
Spectrum3_000565
Spectrum4_000352
Spectrum5_001112
Spectrum_001034
Sumycin
Sumycin (TN)
Sumycin syrup
T-125
T3258_SIGMA
Tetra-Co
Tetrabon
Tetrachel
Tetraciclina
Tetraciclina [INN-Spanish]
Tetracycl
Tetracyclin
Tetracycline & VRC3375
Tetracycline (JAN/USP/INN)
Tetracycline (internal use)
Tetracycline Free Base
Tetracycline HCl
Tetracycline I
Tetracycline II
Tetracycline Monohydrochloride
Tetracycline [USAN:INN:BAN:JAN]
Tetracyclinum
Tetracyclinum [INN-Latin]
Tetracyn
Tetradecin
Tetrafil
Tetraverine
Tetrazyklin
Topicycline
Tsiklomistsin
Tsiklomitsin
Tétracycline
UNII-F8VB5M810T
UPCMLD-DP127
UPCMLD-DP127:001
UPCMLD-DP127:002
Veracin
Vetacyclinum
Vetquamycin-324 (free base)
WLN: L E6 C666 BV FV CU GUTTT&J DQ EQ GVZ HQ IN1&1 MQ M1 RQ
component of Tetrastatin
methyl-1,11-dioxo-2-naphthacenecarboxamide
nchembio.273-comp1
nchembio.289-comp1
tetracycline
28
Hydroxocobalaminapproved24813422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
29
Creatineapproved, nutraceutical12657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
30
Cyanocobalaminapproved, nutraceutical24968-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
31
Betaineapproved, nutraceutical33107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
2-trimethylammonioacetate
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
TMG
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
32
Folic Acidapproved, nutraceutical, vet_approved427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
33Antacids1767
34Calcium, Dietary5525
35Anti-Ulcer Agents1767
36Vitamins5095
37Lipid Regulating Agents2702
38Vitamin B 12249
39Vitamin B Complex4229
40Chelating Agents1365
41Hypolipidemic Agents2721
42Antimetabolites11774
43Gastrointestinal Agents8109
44Hematinics1630
45FolateNutraceutical4279
46Vitamin B9Nutraceutical4279
47
CobalaminNutraceutical24913408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
48
Methylcobalaminexperimental, Nutraceutical24813422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
49Vitamin B12Nutraceutical249

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1A Trial of Levodopa in Angelman SyndromeCompletedNCT01281475Phase 2, Phase 3
2Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment DisabilitiesActive, not recruitingNCT01906866Phase 3
3Study to Evaluate the Efficacy and Safety of Minocycline in Angelman SyndromeCompletedNCT02056665Phase 2
4A Study in Adults With Angelman SyndromeRecruitingNCT02996305Phase 2
5An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum DisorderWithdrawnNCT02226458Phase 2
6Study on Tolerability of Levodopa/Carbidopa in Children With Angelman SyndromeCompletedNCT00829439Phase 1
7Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep DisturbancesCompletedNCT01903681Phase 1
8Minocycline in the Treatment of Angelman SyndromeUnknown statusNCT01531582
9Dietary Supplements for the Treatment of Angelman SyndromeCompletedNCT00348933
10Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
11Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
12Genomic Imprinting and Assisted Reproductive TechnologiesCompletedNCT00773825
13Effects of Creatine Supplementation in Rett SyndromeCompletedNCT01147575
14SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
15Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
16Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708
17Characterization of Angelman SyndromeActive, not recruitingNCT00296764

Search NIH Clinical Center for Angelman Syndrome


Cochrane evidence based reviews: angelman syndrome

Genetic Tests for Angelman Syndrome

About this section

Genetic tests related to Angelman Syndrome:

id Genetic test Affiliating Genes
1 Angelman Syndrome27 24 UBE3A

Anatomical Context for Angelman Syndrome

About this section

MalaCards organs/tissues related to Angelman Syndrome:

36
Tongue, Testes, Brain, Eye, Skin, Cortex, Cerebellum

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50)    (show all 587)
idTitleAuthorsYear
1
Incontinence in persons with Angelman syndrome. (28000035)
2017
2
A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome. (27535666)
2016
3
Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report. (26952234)
2016
4
From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. (27626634)
2016
5
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. (27021170)
2016
6
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. (27232889)
2016
7
Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model. (27546058)
2016
8
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. (27323320)
2016
9
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
10
Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient. (27769316)
2016
11
Angelman Syndrome in the Portrait of a Child With a Drawing by Giovanni F. Caroto. (27380555)
2016
12
mTORC1-S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice. (27173058)
2016
13
Environmental Enrichment Improves Behavioral Abnormalities in a Mouse Model of Angelman Syndrome. (27581300)
2016
14
Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. (27006693)
2016
15
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
16
Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. (26847597)
2016
17
Reflex seizures in a patient with Angelman syndrome and trisomy 21. (26972081)
2016
18
Genetically Dissecting Cortical Neurons Involved in Epilepsy in Angelman Syndrome. (27054611)
2016
19
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome. (27990716)
2016
20
Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. (27206232)
2016
21
Angelman syndrome - insights into a rare neurogenetic disorder. (27615419)
2016
22
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome. (26954797)
2016
23
Angelman syndrome: Current and emerging therapies in 2016. (27860204)
2016
24
Analysis of peripheral amyloid precursor protein in Angelman Syndrome. (27327493)
2016
25
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. (26727042)
2016
26
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice. (27306933)
2016
27
Angelman syndrome in Hong Kong Chinese: A 20 years' experience. (27174604)
2016
28
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome. (26841067)
2016
29
Angelman syndrome in an infant boy. (27575902)
2016
30
Pharmacological therapies for Angelman syndrome. (26758979)
2016
31
Effects of the synthetic neurosteroid ganaxolone on seizure activity and behavioral deficits in an Angelman syndrome mouse model. (27986596)
2016
32
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing. (27484051)
2016
33
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype. (27323188)
2016
34
Angelman Syndrome: A Case Report. (27247589)
2016
35
Angelman syndrome and isovaleric acidemia: What is the link? (26937393)
2015
36
Yin-and-Yang of mTORC1/C2 in Angelman syndrome mice. (26116835)
2015
37
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter. (25588880)
2015
38
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
39
Potential therapeutic approaches for Angelman syndrome. (26558806)
2015
40
Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome. (25684537)
2015
41
Parent stress across molecular subtypes of children with Angelman syndrome. (25833412)
2015
42
Ube3a imprinting impairs circadian robustness in Angelman syndrome models. (25660546)
2015
43
Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome. (25832033)
2015
44
The neurobehavioral and molecular phenotype of Angelman Syndrome. (26219744)
2015
45
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. (25866966)
2015
46
Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome. (25749713)
2015
47
Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model. (26485287)
2015
48
Uncovering a Role for SK2 in Angelman Syndrome. (26200312)
2015
49
The Effect of Menstrual Issues on Young Women with Angelman Syndrome. (26718530)
2015
50
Neurodevelopmental disorders. Unmuting Ube3a in mice alleviates Angelman syndrome. (25511900)
2015

Variations for Angelman Syndrome

About this section

Clinvar genetic disease variations for Angelman Syndrome:

5 (show all 137)
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_004992.3(MECP2): c.397C> T (p.Arg133Cys)SNVPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
2MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)SNVPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
3MECP2NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
4MECP2NM_004992.3(MECP2): c.916C> T (p.Arg306Cys)SNVPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
5MECP2NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter)SNVPathogenicrs61748396GRCh37Chr X, 153296856: 153296856
6UBE3ANM_130838.1(UBE3A): c.99delC (p.Cys34Valfs)deletionPathogenicrs587780565GRCh38Chr 15, 25375667: 25375667
7UBE3ANM_130838.1(UBE3A): c.199_202dupAAAG (p.Gly68Glufs)duplicationPathogenicrs587780566GRCh38Chr 15, 25375564: 25375567
8UBE3ANM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs)deletionPathogenicrs587780567GRCh38Chr 15, 25375502: 25375503
9UBE3ANM_130838.1(UBE3A): c.275dupA (p.Lys93Glufs)duplicationPathogenicrs587780568GRCh38Chr 15, 25375491: 25375491
10UBE3ANM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs)deletionPathogenicrs587780569GRCh38Chr 15, 25375486: 25375489
11UBE3ANM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs)deletionPathogenicrs587780570GRCh38Chr 15, 25371799: 25371802
12UBE3ANM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs)deletionPathogenicrs587780571GRCh38Chr 15, 25371751: 25371752
13UBE3ANM_130838.1(UBE3A): c.403dupT (p.Ser135Phefs)duplicationPathogenicrs587780572GRCh38Chr 15, 25371711: 25371711
14UBE3ANM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs)deletionPathogenicrs587780573GRCh37Chr 15, 25616714: 25616714
15UBE3ANM_130838.1(UBE3A): c.580dupA (p.Ser194Lysfs)duplicationPathogenicrs587780574GRCh38Chr 15, 25371534: 25371534
16UBE3ANM_130838.1(UBE3A): c.688G> T (p.Glu230Ter)SNVPathogenicrs587780575GRCh38Chr 15, 25371426: 25371426
17UBE3ANM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter)SNVPathogenicrs587780576GRCh38Chr 15, 25371397: 25371397
18UBE3ANM_130838.1(UBE3A): c.2T> C (p.Met1Thr)SNVLikely pathogenic, Pathogenicrs587780577GRCh38Chr 15, 25405461: 25405461
19UBE3ANM_130838.1(UBE3A): c.302-2A> TSNVPathogenicrs587780578GRCh38Chr 15, 25371814: 25371814
20UBE3ANM_130838.1(UBE3A): c.1694-2A> GSNVPathogenicrs587780579GRCh38Chr 15, 25356898: 25356898
21UBE3ANM_130838.1(UBE3A): c.2065-2A> CSNVPathogenicrs587780580GRCh38Chr 15, 25354685: 25354685
22UBE3ANM_130838.1(UBE3A): c.2558A> T (p.Ter853Leu)SNVPathogenicrs76794400GRCh38Chr 15, 25339138: 25339138
23UBE3ANM_130838.1(UBE3A): c.635A> T (p.Asp212Val)SNVPathogenicrs587780581GRCh38Chr 15, 25371479: 25371479
24UBE3ANM_130838.1(UBE3A): c.710T> C (p.Leu237Pro)SNVPathogenicrs587780582GRCh38Chr 15, 25371404: 25371404
25UBE3ANM_130838.1(UBE3A): c.788T> G (p.Leu263Trp)SNVPathogenicrs587780583GRCh38Chr 15, 25371326: 25371326
26UBE3ANM_130838.1(UBE3A): c.1373C> T (p.Pro458Leu)SNVPathogenicrs587780584GRCh38Chr 15, 25370741: 25370741
27UBE3ANM_130838.1(UBE3A): c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del)deletionPathogenicrs587780585GRCh38Chr 15, 25370735: 25370749
28MECP2NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs)deletionPathogenicrs63749748GRCh37Chr X, 153296079: 153296122
29MECP2NM_004992.3(MECP2): c.302C> G (p.Pro101Arg)SNVPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
30CDKL5NM_003159.2(CDKL5): c.902_903dupGA (p.Leu302Aspfs)duplicationPathogenicrs267608546GRCh37Chr X, 18616658: 18616659
31UBE3ANM_130838.1(UBE3A): c.750T> A (p.Tyr250Ter)SNVPathogenicrs587781190GRCh38Chr 15, 25371364: 25371364
32UBE3ANM_130838.1(UBE3A): c.961C> T (p.Gln321Ter)SNVPathogenicrs587781191GRCh38Chr 15, 25371153: 25371153
33UBE3ANM_130838.1(UBE3A): c.972_978delTACTTAT (p.Thr325Lysfs)deletionPathogenicrs587781192GRCh38Chr 15, 25371136: 25371142
34UBE3ANM_130838.1(UBE3A): c.1067dupA (p.Tyr356Terfs)duplicationPathogenicrs587781193GRCh38Chr 15, 25371047: 25371047
35UBE3ANM_130838.1(UBE3A): c.1076dupA (p.Asn359Lysfs)duplicationPathogenicrs587781194GRCh38Chr 15, 25371038: 25371038
36UBE3ANM_130838.1(UBE3A): c.1114G> T (p.Glu372Ter)SNVPathogenicrs587781195GRCh38Chr 15, 25371000: 25371000
37UBE3ANM_130838.1(UBE3A): c.1201C> T (p.Arg401Ter)SNVPathogenicrs587781196GRCh38Chr 15, 25370913: 25370913
38UBE3ANM_130838.1(UBE3A): c.1270G> T (p.Glu424Ter)SNVPathogenicrs587781197GRCh38Chr 15, 25370844: 25370844
39UBE3ANM_130838.1(UBE3A): c.1285G> T (p.Glu429Ter)SNVPathogenicrs587781198GRCh38Chr 15, 25370829: 25370829
40UBE3ANM_130838.1(UBE3A): c.1355dupT (p.Ser453Leufs)duplicationPathogenicrs587781199GRCh38Chr 15, 25370759: 25370759
41UBE3ANM_130838.1(UBE3A): c.1361_1362delTT (p.Phe454Tyrfs)deletionPathogenicrs587781200GRCh38Chr 15, 25370752: 25370753
42UBE3ANM_130838.1(UBE3A): c.1371T> A (p.Cys457Ter)SNVPathogenicrs587781201GRCh38Chr 15, 25370743: 25370743
43UBE3ANM_130838.1(UBE3A): c.1387delG (p.Ala463Leufs)deletionPathogenicrs587781202GRCh38Chr 15, 25370727: 25370727
44UBE3ANM_130838.1(UBE3A): c.1505_1506delTC (p.Leu502Glnfs)deletionPathogenicrs587781203GRCh38Chr 15, 25370608: 25370609
45UBE3ANM_130838.1(UBE3A): c.1537dupG (p.Ala513Glyfs)duplicationPathogenicrs587781204GRCh38Chr 15, 25370577: 25370577
46UBE3ANM_130838.1(UBE3A): c.1571dupA (p.Asn524Lysfs)duplicationPathogenicrs587781205GRCh38Chr 15, 25360505: 25360505
47UBE3ANM_130838.1(UBE3A): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs587781206GRCh38Chr 15, 25360468: 25360468
48UBE3ANM_130838.1(UBE3A): c.1639_1642dupGTTT (p.Ser548Cysfs)duplicationPathogenicrs587781207GRCh38Chr 15, 25360434: 25360437
49UBE3ANM_130838.1(UBE3A): c.1730G> A (p.Trp577Ter)SNVPathogenicrs587781208GRCh38Chr 15, 25356860: 25356860
50UBE3ANM_130838.1(UBE3A): c.1814_1824delTACTGGATGTA (p.Ile605Thrfs)deletionPathogenicrs587781209GRCh38Chr 15, 25356766: 25356776
51UBE3ANM_130838.1(UBE3A): c.1912_1913delAG (p.Ser638Phefs)deletionPathogenicrs587781210GRCh38Chr 15, 25356043: 25356044
52UBE3ANM_130838.1(UBE3A): c.1956_1963delCATGATGA (p.Met653Hisfs)deletionPathogenicrs587781211GRCh38Chr 15, 25355993: 25356000
53UBE3ANM_130838.1(UBE3A): c.1957dupA (p.Met653Asnfs)duplicationPathogenicrs587781212GRCh38Chr 15, 25355999: 25355999
54UBE3ANM_130838.1(UBE3A): c.1972C> T (p.Gln658Ter)SNVPathogenicrs587781213GRCh38Chr 15, 25355984: 25355984
55UBE3ANM_130838.1(UBE3A): c.1972delC (p.Gln658Argfs)deletionPathogenicrs587781214GRCh38Chr 15, 25355984: 25355984
56UBE3ANM_130838.1(UBE3A): c.2102_2103insTATT (p.Lys701Asnfs)insertionPathogenicrs587781215GRCh38Chr 15, 25354645: 25354646
57UBE3ANM_130838.1(UBE3A): c.2170_2174dupAAGTA (p.Tyr725Terfs)duplicationPathogenicrs587781216GRCh38Chr 15, 25354574: 25354578
58UBE3ANM_130838.1(UBE3A): c.2177T> A (p.Leu726Ter)SNVPathogenicrs587781217GRCh38Chr 15, 25354571: 25354571
59UBE3ANM_130838.1(UBE3A): c.2186delC (p.Pro729Glnfs)deletionPathogenicrs587781218GRCh38Chr 15, 25354562: 25354562
60UBE3ANM_130838.1(UBE3A): c.2233C> T (p.Gln745Ter)SNVPathogenicrs587781219GRCh38Chr 15, 25354414: 25354414
61UBE3ANM_130838.1(UBE3A): c.2245G> T (p.Glu749Ter)SNVPathogenicrs587781220GRCh38Chr 15, 25354402: 25354402
62UBE3ANM_130838.1(UBE3A): c.2245delG (p.Glu749Lysfs)deletionPathogenicrs587781221GRCh38Chr 15, 25354402: 25354402
63UBE3ANM_130838.1(UBE3A): c.2247_2251dupAACTA (p.Thr751Lysfs)duplicationPathogenicrs587781222GRCh38Chr 15, 25354396: 25354400
64UBE3ANM_130838.1(UBE3A): c.2289dupG (p.Ile764Aspfs)duplicationPathogenicrs587781223GRCh38Chr 15, 25354358: 25354358
65UBE3ANM_130838.1(UBE3A): c.2344_2345delTT (p.Phe782Leufs)deletionPathogenicrs587781224GRCh38Chr 15, 25340178: 25340179
66UBE3ANM_130838.1(UBE3A): c.2370_2373delCAGA (p.Asp790Glufs)deletionPathogenicrs587781225GRCh38Chr 15, 25340150: 25340153
67UBE3ANM_130838.1(UBE3A): c.2463_2521dup59 (p.Lys841Ilefs)duplicationPathogenicGRCh38Chr 15, 25339175: 25339233
68UBE3ANM_130838.1(UBE3A): c.2474T> A (p.Leu825Ter)SNVPathogenicrs587781226GRCh38Chr 15, 25339222: 25339222
69UBE3ANM_130838.1(UBE3A): c.2478delT (p.Pro827Argfs)deletionPathogenicrs587781227GRCh38Chr 15, 25339218: 25339218
70UBE3ANM_130838.1(UBE3A): c.2487_2554del68 (p.Ser830Valfs)deletionPathogenicGRCh38Chr 15, 25339142: 25339209
71UBE3ANM_130838.1(UBE3A): c.2489C> G (p.Ser830Ter)SNVPathogenicrs587781228GRCh38Chr 15, 25339207: 25339207
72UBE3ANM_130838.1(UBE3A): c.2497_2500dupGAAA (p.Lys834Argfs)duplicationPathogenicrs587781229GRCh38Chr 15, 25339196: 25339199
73UBE3ANM_130838.1(UBE3A): c.2503_2506dupCTTA (p.Lys836Thrfs)duplicationPathogenicrs587781230GRCh38Chr 15, 25339190: 25339193
74UBE3ANM_130838.1(UBE3A): c.2507_2508delAA (p.Lys836Argfs)deletionPathogenicrs587781231GRCh38Chr 15, 25339188: 25339189
75UBE3ANM_130838.1(UBE3A): c.2556_*6delGTAAAACAAAdeletionPathogenicrs587781232GRCh38Chr 15, 25339131: 25339140
76UBE3ANM_130838.1(UBE3A): c.1633G> A (p.Gly545Arg)SNVPathogenicrs587781233GRCh38Chr 15, 25360443: 25360443
77UBE3ANM_130838.1(UBE3A): c.1745_1747delCTT (p.Ser582del)deletionLikely pathogenic, Pathogenicrs587781234GRCh38Chr 15, 25356843: 25356845
78UBE3ANM_130838.1(UBE3A): c.1750G> C (p.Glu584Gln)SNVPathogenicrs587781235GRCh38Chr 15, 25356840: 25356840
79UBE3ANM_130838.1(UBE3A): c.1967C> T (p.Thr656Ile)SNVPathogenicrs587781236GRCh38Chr 15, 25355989: 25355989
80UBE3ANM_130838.1(UBE3A): c.2069T> G (p.Phe690Cys)SNVPathogenicrs587781237GRCh38Chr 15, 25354679: 25354679
81UBE3ANM_130838.1(UBE3A): c.2406_2408delGAT (p.Met802del)deletionPathogenicrs587781238GRCh37Chr 15, 25585262: 25585264
82UBE3ANM_130838.1(UBE3A): c.2480C> T (p.Pro827Leu)SNVPathogenicrs587781239GRCh38Chr 15, 25339216: 25339216
83UBE3ANM_130838.1(UBE3A)duplicationPathogenicrs587781240GRCh38Chr 15, 25339189: 25339209
84UBE3ANM_130838.1(UBE3A): c.317C> A (p.Thr106Lys)SNVLikely pathogenic, Pathogenicrs587781241GRCh38Chr 15, 25371797: 25371797
85UBE3ANM_130838.1(UBE3A): c.710T> A (p.Leu237His)SNVLikely pathogenicrs587780582GRCh38Chr 15, 25371404: 25371404
86UBE3ANM_130838.1(UBE3A): c.1304T> C (p.Leu435Pro)SNVLikely pathogenicrs587781242GRCh38Chr 15, 25370810: 25370810
87UBE3ANM_130838.1(UBE3A): c.1430G> C (p.Arg477Pro)SNVLikely pathogenicrs587781243GRCh38Chr 15, 25370684: 25370684
88UBE3ANM_130838.1(UBE3A): c.1697T> A (p.Met566Lys)SNVLikely pathogenicrs587781244GRCh38Chr 15, 25356893: 25356893
89UBE3ANM_130838.1(UBE3A): c.2503C> T (p.Leu835Phe)SNVLikely pathogenicrs587783097GRCh38Chr 15, 25339193: 25339193
90UBE3ANM_130838.1(UBE3A): c.1090G> T (p.Glu364Ter)SNVPathogenicrs587784508GRCh38Chr 15, 25371024: 25371024
91UBE3ANM_130838.1(UBE3A): c.1110_1113delTGAA (p.Asn370Lysfs)deletionPathogenicrs587784509GRCh37Chr 15, 25616148: 25616151
92UBE3ANM_130838.1(UBE3A): c.1347_1348delGA (p.Asn450Glnfs)deletionPathogenicrs587784512GRCh37Chr 15, 25615913: 25615914
93UBE3ANM_130838.1(UBE3A): c.1461_1468delCTACAGCT (p.Tyr488Serfs)deletionPathogenicrs587784513GRCh37Chr 15, 25615793: 25615800
94UBE3ANM_130838.1(UBE3A): c.1567G> T (p.Glu523Ter)SNVPathogenicrs587784514GRCh38Chr 15, 25360509: 25360509
95UBE3ANM_130838.1(UBE3A): c.1599T> A (p.Tyr533Ter)SNVPathogenicrs587784515GRCh38Chr 15, 25360477: 25360477
96UBE3ANM_130838.1(UBE3A): c.1634G> A (p.Gly545Glu)SNVLikely pathogenicrs587784516GRCh38Chr 15, 25360442: 25360442
97UBE3ANM_130838.1(UBE3A): c.1688A> G (p.Asp563Gly)SNVLikely pathogenicrs587784518GRCh38Chr 15, 25360388: 25360388
98UBE3ANM_130838.1(UBE3A): c.1726_1730delTTTTG (p.Phe576Valfs)deletionPathogenicrs587784519GRCh37Chr 15, 25602007: 25602011
99UBE3ANM_130838.1(UBE3A): c.1763A> G (p.Gln588Arg)SNVLikely pathogenicrs587782919GRCh38Chr 15, 25356827: 25356827
100UBE3ANM_130838.1(UBE3A): c.1774_1777delATTG (p.Ile592Alafs)deletionPathogenicrs587784520GRCh37Chr 15, 25601960: 25601963
101UBE3ANM_130838.1(UBE3A): c.2485T> C (p.Tyr829His)SNVPathogenicrs587784526GRCh38Chr 15, 25339211: 25339211
102UBE3ANM_130838.1(UBE3A): c.2507_2510delAAGA (p.Lys836Argfs)deletionPathogenicrs587784527GRCh37Chr 15, 25584333: 25584336
103UBE3ANM_130838.1(UBE3A): c.317_321delCAGAA (p.Thr106Argfs)deletionPathogenicrs587784529GRCh37Chr 15, 25616940: 25616944
104UBE3ANM_130838.1(UBE3A): c.380delT (p.Ile127Thrfs)deletionPathogenicrs587784530GRCh38Chr 15, 25371734: 25371734
105UBE3ANM_130838.1(UBE3A): c.388_399delATTGGAAGAGTT (p.Ile130_Val133del)deletionLikely pathogenicrs587784531GRCh37Chr 15, 25616862: 25616873
106UBE3ANM_130838.1(UBE3A): c.505_511delGAAAAGG (p.Glu169Lysfs)deletionPathogenicrs587784532GRCh37Chr 15, 25616750: 25616756
107UBE3ANM_130838.1(UBE3A): c.829G> T (p.Glu277Ter)SNVPathogenicrs587784533GRCh38Chr 15, 25371285: 25371285
108UBE3ANM_130838.1(UBE3A): c.964C> T (p.Gln322Ter)SNVPathogenicrs587784534GRCh38Chr 15, 25371150: 25371150
109UBE3ANM_130838.1(UBE3A): c.486_487insCT (p.Glu163Leufs)insertionPathogenicrs786200996GRCh37Chr 15, 25616774: 25616775
110MECP2NM_004992.3(MECP2): c.1159_1210del52 (p.Pro387Serfs)deletionPathogenicGRCh37Chr X, 153296069: 153296120
111UBE3ANM_130838.1(UBE3A): c.1762_1763delCA (p.Gln588Valfs)deletionPathogenicrs794727738GRCh37Chr 15, 25601974: 25601975
112subset of 23 genes:MAGEL2;SNURF;UBE3ANC_000015.9: g.(?_23730704)_(28530182_?)deldeletionPathogenicGRCh37Chr 15, 23730704: 28530182
113UBE3ANM_130838.1(UBE3A): c.2+1_2+2insAAinsertionPathogenicrs797046084GRCh38Chr 15, 25405459: 25405460
114UBE3ANM_130838.1(UBE3A): c.2178dupA (p.Phe727Ilefs)duplicationPathogenicrs797046085GRCh38Chr 15, 25354570: 25354570
115UBE3ANM_130838.1(UBE3A): c.2337_2340dupAAGA (p.Leu781Lysfs)duplicationPathogenicrs797046086GRCh38Chr 15, 25340183: 25340186
116UBE3ANM_130838.1(UBE3A): c.2463_2506dup44 (p.Lys836Ilefs)duplicationPathogenicrs587781230GRCh38Chr 15, 25339190: 25339233
117UBE3ANM_130838.1(UBE3A): c.2502dupA (p.Leu835Thrfs)duplicationPathogenicrs797046087GRCh37Chr 15, 25584341: 25584341
118UBE3ANM_130838.1(UBE3A): c.2503_2507dupCTTAA (p.Lys836Asnfs)duplicationPathogenicrs587781240GRCh38Chr 15, 25339189: 25339193
119UBE3ANM_130838.1(UBE3A): c.2547dupT (p.Gly850Trpfs)duplicationPathogenicrs797046088GRCh38Chr 15, 25339149: 25339149
120UBE3ANM_130838.1(UBE3A): c.2475_2478delACTT (p.Leu825Phefs)deletionLikely pathogenicrs863224940GRCh37Chr 15, 25584365: 25584368
121UBE3ANM_000462.3(UBE3A): c.128G> T (p.Gly43Val)SNVPathogenicrs864309506GRCh38Chr 15, 25375707: 25375707
122UBE3ANM_130838.1(UBE3A): c.1811_1812delGT (p.Cys604Tyrfs)deletionPathogenicrs864309508GRCh38Chr 15, 25356778: 25356779
123UBE3ANM_130838.1(UBE3A): c.-44-?_*1888+?deldeletionPathogenicChr na, -1: -1
124UBE3ANM_130838.1(UBE3A): c.1177G> T (p.Glu393Ter)SNVPathogenicrs886043612GRCh37Chr 15, 25616084: 25616084
125UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenicChr na, -1: -1
126UBE3AUBE3A, 5-BP DUPduplicationPathogenicChr na, -1: -1
127UBE3AUBE3A, IVS9, A-G, -8SNVPathogenicChr na, -1: -1
128UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenicChr na, -1: -1
129UBE3ANM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter)SNVPathogenicrs111033594GRCh37Chr 15, 25616012: 25616012
130UBE3ANM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter)SNVPathogenicrs111033595GRCh37Chr 15, 25585366: 25585366
131UBE3ANM_130838.1(UBE3A): c.316A> C (p.Thr106Pro)SNVPathogenicrs111033596GRCh37Chr 15, 25616945: 25616945
132UBE3ANM_130838.1(UBE3A): c.389T> C (p.Ile130Thr)SNVPathogenicrs111033597GRCh37Chr 15, 25616872: 25616872
133UBE3AUBE3A, 4-BP DEL, 3093AAGAdeletionPathogenicChr na, -1: -1
134UBE3AUBE3A, 2-BP DEL, 1930AGdeletionPathogenicChr na, -1: -1
135UBE3AUBE3A, 4-BP DUP, EX10, GAGGduplicationPathogenicChr na, -1: -1
136UBE3ANM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs)indelPathogenicrs398124438GRCh37Chr 15, 25615713: 25615714
137UBE3ANM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs)deletionPathogenicrs398124440GRCh37Chr 15, 25584337: 25584340

Copy number variations for Angelman Syndrome from CNVD:

6 (show all 13)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
189258151700000031400000DeletionAngelman syndrome
289259151700000031400000DeletionAngelman syndrome
389265151700000031400000DeletionUBE3AAngelman syndrome
489266151700000031400000DeletionUBE3AAngelman syndrome
589299151700000031400000MicrodeletionUBE3AAngelman syndrome
689300151700000037900000DeletionNIPA1Angelman syndrome
789301151700000042700000DeletionNIPA2Angelman syndrome
889409151840000023300000Copy numberAngelman syndrome
989561151868300027286000DeletionAngelman syndrome
1090908152570000031400000DeletionUBE3AAngelman syndrome
11257068174540156245406950DeletionBP1Angelman syndrome
12257071152044412420555044DeletionCYFIP1Angelman syndrome
13257072152038483520425332DeletionGCP5Angelman syndrome

Expression for genes affiliated with Angelman Syndrome

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Search GEO for disease gene expression data for Angelman Syndrome.

Pathways for genes affiliated with Angelman Syndrome

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GO Terms for genes affiliated with Angelman Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1early endosomeGO:000576910.2MAGEL2, NIPA1, NIPA2, SLC9A6
2GABA-A receptor complexGO:190271110.2GABRA5, GABRB3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1behavioral fear responseGO:000166210.9GABRA5, MECP2
2cochlea developmentGO:009010210.8GABRA5, GABRB3
3inner ear receptor cell developmentGO:006011910.8GABRA5, GABRB3
4innervationGO:006038410.8GABRA5, GABRB3
5magnesium ion transmembrane transportGO:190383010.8NIPA1, NIPA2
6axon extensionGO:004867510.8NDN, SLC9A6
7magnesium ion transportGO:001569310.8NIPA1, NIPA2
8negative regulation of neuron apoptotic processGO:004352410.6GABRA5, GABRB3, MECP2
9ion transmembrane transportGO:003422010.5ATP10A, GABRA5, GABRB3, RPS27A
10neuron developmentGO:004866610.4GABRA5, GABRB3, NDN
11regulation of neuron apoptotic processGO:004352310.2GABRA5, GABRB3

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

idNameGO IDScoreTop Affiliating Genes
1GABA-A receptor activityGO:000489010.5GABRA5, GABRB3
2magnesium ion transmembrane transporter activityGO:001509510.2NIPA1, NIPA2

Sources for Angelman Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet