MCID: ANG001
MIFTS: 66

Angelman Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Angelman Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Angelman Syndrome:

Name: Angelman Syndrome 49 10 11 68 21 45 22 23 46 47 12 51 24 65 36 67
As 68 45 23 67
 
Happy Puppet Syndrome 10 45 67
Puppetlike Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
angelman syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy


External Ids:

OMIM49 105830
Disease Ontology10 DOID:1932
MeSH36 D017204
Orphanet51 72
SNOMED-CT59 76880004
ICD10 via Orphanet28 Q93.5
MESH via Orphanet37 D017204
UMLS via Orphanet66 C0162635
MedGen34 C0162635

Summaries for Angelman Syndrome

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OMIM:49 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 hypoxia and bowman's membrane folds or rupture, 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 Coregulation of Androgen receptor activity. Affiliated tissues include tongue, brain and eye, and related mouse phenotypes are nervous system and behavior/neurological.

NIH Rare Diseases:45 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. last updated: 6/13/2011

NINDS:46 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 gene inherited from the mother.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Angelman syndrome (AS) is a neuro-genetic disorder characterized by severe intellectual and... more...

GeneReviews summary for angelman

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 7438)
idRelated DiseaseScoreTop Affiliating Genes
1hypoxia31.0MAGEL2, MECP2, UBE3A
2bowman's membrane folds or rupture30.5GABRA5, GABRB2, GABRB3, NIPA2
3aggressive periodontitis30.4GABRB2, GABRB3
4shaken baby syndrome30.2CDKL5, MECP2
5autoimmune hepatitis30.1CDKL5, GABRA5, GABRB3, MECP2, NDN, SNRPN
6autoimmune disease of blood30.0GABRA5, GABRB3, MAGEL2, MECP2, NDN, SNRPN
7mental retardation, x-linked, syndromic 1329.3CDKL5, GABRB3, MBD4, MECP2, UBE3A
8breast cancer11.0
9leukemia11.0
10prostatitis10.9
11adenocarcinoma10.9
12lung cancer10.9
13colorectal cancer10.8
14pancreatitis10.8
15prostate cancer10.8
16hepatocellular carcinoma10.8
17prader-willi syndrome10.8
18endotheliitis10.8
19arthritis10.8
20melanoma10.8
21cervicitis10.8
22sarcoma10.8
23gastric cancer10.7
24ovarian cancer10.7
25retinitis10.7
26myocardial infarction10.7
27tuberculosis10.7
28aneurysm10.7
29schizophrenia10.7
30asthma10.7
31rheumatoid arthritis10.7
32lupus erythematosus10.7
33gastrointestinal system cancer10.7
34myeloid leukemia10.7
35esophagitis10.7
36renal cell carcinoma10.7
37neuropathy10.7
38myeloma10.7
39pneumonia10.7
40adenoma10.6
41ischemia10.6
42meningitis10.6
43dementia10.6
44li-fraumeni syndrome10.6
45cardiomyopathy10.6
46systemic lupus erythematosus10.6
47breast disease10.6
48multiple myeloma10.6
49thoracic cancer10.6
50liver disease10.6

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



Diseases related to angelman syndrome

Symptoms for Angelman Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

105830

Clinical features from OMIM:

105830

Symptoms:

 51 (show all 21)
  • microcephaly
  • brachycephaly/flat occiput
  • face/facial anomalies
  • prognathism/prognathia
  • anomalies of eyes and vision
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • eeg anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • insterstitial/subtelomeric microdeletion/deletion
  • depressed premaxillary region/midface
  • macrostomia/big mouth
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hypereflexia
  • strabismus/squint
  • inguinal/inguinoscrotal/crural hernia

HPO human phenotypes related to Angelman Syndrome:

(show all 60)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 mandibular prognathia hallmark (90%) HP:0000303
3 behavioral abnormality hallmark (90%) HP:0000708
4 seizures hallmark (90%) HP:0001250
5 muscular hypotonia hallmark (90%) HP:0001252
6 cerebral cortical atrophy hallmark (90%) HP:0002120
7 broad-based gait hallmark (90%) HP:0002136
8 neurological speech impairment hallmark (90%) HP:0002167
9 incoordination hallmark (90%) HP:0002311
10 clumsiness hallmark (90%) HP:0002312
11 eeg abnormality hallmark (90%) HP:0002353
12 cognitive impairment hallmark (90%) HP:0100543
13 sporadic common (75%) HP:0003745
14 wide mouth typical (50%) HP:0000154
15 abnormality of the teeth typical (50%) HP:0000164
16 malar flattening typical (50%) HP:0000272
17 hyperreflexia typical (50%) HP:0001347
18 strabismus occasional (7.5%) HP:0000486
19 hernia of the abdominal wall occasional (7.5%) HP:0004299
20 microcephaly HP:0000252
21 intellectual disability HP:0001249
22 seizures HP:0001250
23 truncal ataxia HP:0002078
24 eeg abnormality HP:0002353
25 autosomal dominant inheritance HP:0000006
26 wide mouth HP:0000154
27 macroglossia HP:0000158
28 brachycephaly HP:0000248
29 mandibular prognathia HP:0000303
30 hypoplasia of the maxilla HP:0000327
31 strabismus HP:0000486
32 deeply set eye HP:0000490
33 myopia HP:0000545
34 exotropia HP:0000577
35 blue irides HP:0000635
36 nystagmus HP:0000639
37 widely spaced teeth HP:0000687
38 paroxysmal bursts of laughter HP:0000749
39 hyperactivity HP:0000752
40 hypopigmentation of the skin HP:0001010
41 muscular hypotonia HP:0001252
42 global developmental delay HP:0001263
43 motor delay HP:0001270
44 absent speech HP:0001344
45 hyperreflexia HP:0001347
46 obesity HP:0001513
47 constipation HP:0002019
48 cerebral cortical atrophy HP:0002120
49 fair hair HP:0002286
50 drooling HP:0002307
51 scoliosis HP:0002650
52 flat occiput HP:0005469
53 postnatal microcephaly HP:0005484
54 intellectual disability, progressive HP:0006887
55 sleep-wake cycle disturbance HP:0006979
56 progressive gait ataxia HP:0007240
57 feeding difficulties in infancy HP:0008872
58 protruding tongue HP:0010808
59 intellectual disability, severe HP:0010864
60 limb tremor HP:0200085

Drugs & Therapeutics for Angelman Syndrome

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 2, Phase 3, Phase 1281462-31-7, 51-61-6681
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 Hcl
Dopamine 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
2
CarbidopaapprovedPhase 2, Phase 3, Phase 114428860-95-934359, 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-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic 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)
(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(S)-(-)-Carbidopa hydrate
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa hydrate
(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
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
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa monohydrate
Carbidopa, (S)-Isomer
 
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
Carbidopum
Carbidopum [INN-Latin]
Carbidopum monohydricum
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-alpha-(3,4-Dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
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
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
carbidopa hydrate
carbidopum monohydricum
3
LevodopaapprovedPhase 2, Phase 3, Phase 133959-92-76047
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
4
Melatoninapproved, nutraceuticalPhase 3, Phase 121573-31-4896
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
5DihydroxyphenylalaninePhase 2, Phase 3, Phase 1112
6
Minocyclineapproved, investigationalPhase 216210118-90-85281021
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
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
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
Minocycline (USAN/INN)
Minocycline Hydrochloride
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
Solodyn
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
Ximino
minociclinum
minocycline
nchembio.559-comp1
7
Hydroxocobalaminapproved21713422-51-011953898, 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 monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
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
8
Tetracyclineapproved8160-54-85280962, 5353990
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
TETRACYCLINE
Tetra-Co
Tetrabon
Tetrachel
Tetraciclina
Tetraciclina [INN-Spanish]
Tetracycl
Tetracyclin
Tetracycline
Tetracycline & VRC3375
Tetracycline (JAN/USP/INN)
Tetracycline (internal use)
Tetracycline Free Base
Tetracycline HCl
Tetracycline Hydrochloride
Tetracycline I
Tetracycline II
Tetracycline Monohydrochloride
Tetracycline [USAN:INN:BAN:JAN]
Tetracycline hydrochloride
Tetracyclinum
Tetracyclinum [INN-Latin]
Tetracyn
Tetradecin
Tetrafil
Tetraverine
Tetrazyklin
Topicycline
Tsiklomistsin
Tsiklomitsin
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
9
Folic Acidapproved, nutraceutical285159-30-36037
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
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
10
Cyanocobalaminapproved, nutraceutical21768-19-944176380, 44176380, 5462245
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
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
11
Creatineapproved, nutraceutical10357-00-1586
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
12
Betaine31107-43-7247
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
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
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
13Vitamin B Complex2775
14Vitamin B 12224
15Calcium, Dietary3529
16
CobalaminNutraceutical21713408-78-16438156
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
17Vitamin B9Nutraceutical2851
18Vitamin B12Nutraceutical217
19
MethylcobalaminNutraceutical21713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
20FolateNutraceutical2851

Interventional clinical trials:

(show all 16)
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 DisabilitiesRecruitingNCT01906866Phase 3
3Study to Evaluate the Efficacy and Safety of Minocycline in Angelman SyndromeCompletedNCT02056665Phase 2
4An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum DisorderWithdrawnNCT02226458Phase 2
5Study on Tolerability of Levodopa/Carbidopa in Children With Angelman SyndromeCompletedNCT00829439Phase 1
6Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep DisturbancesCompletedNCT01903681Phase 1
7Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
8Dietary Supplements for the Treatment of Angelman SyndromeCompletedNCT00348933
9Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
10Genomic Imprinting and Assisted Reproductive TechnologiesCompletedNCT00773825
11Effects of Creatine Supplementation in Rett SyndromeCompletedNCT01147575
12Characterization of Angelman SyndromeRecruitingNCT00296764
13SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457
14Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
15Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708
16Minocycline in the Treatment of Angelman SyndromeActive, not recruitingNCT01531582

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 Syndrome22 24 UBE3A

Anatomical Context for Angelman Syndrome

About this section

MalaCards organs/tissues related to Angelman Syndrome:

33
Tongue, Brain, Eye, Testes, Skin, Cortex, Cerebellum

Animal Models for Angelman Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Angelman Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.9CDKL5, GABRA5, GABRB2, GABRB3, HUWE1, MAGEL2
2MP:00053868.8CDKL5, GABRA5, GABRB2, GABRB3, MAGEL2, MECP2

Publications for Angelman Syndrome

About this section

Articles related to Angelman Syndrome:

(show top 50)    (show all 548)
idTitleAuthorsYear
1
Yin-and-Yang of mTORC1/C2 in Angelman syndrome mice. (26116835)
2015
2
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy. (26559560)
2015
3
Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome. (25633294)
2015
4
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter. (25588880)
2015
5
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. (24672001)
2014
6
Use and acceptance of AAC systems by children with Angelman syndrome. (23606637)
2013
7
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. (23283345)
2013
8
Impairment of TrkB-PSD-95 signaling in Angelman syndrome. (23424281)
2013
9
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. (22381732)
2012
10
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. (21831244)
2012
11
Understanding the pathogenesis of Angelman syndrome through animal models. (22830052)
2012
12
Sudden death and Angelman syndrome. (21854386)
2012
13
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. (22174738)
2011
14
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. (20692323)
2010
15
Clinical and genetic aspects of Angelman syndrome. (20445456)
2010
16
Parents' priorities for AAC and related instruction for their children with Angelman Syndrome. (20196702)
2010
17
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. (18996915)
2009
18
Benefit of corticosteroid therapy in Angelman syndrome. (19666884)
2009
19
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. (18384537)
2008
20
Angelman syndrome: clinical findings and follow-up data of 14 patients. (18664077)
2008
21
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. (17394213)
2007
22
Molecular epigenetics of Angelman syndrome. (17347796)
2007
23
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (15014980)
2004
24
Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). (15384094)
2004
25
Sleep problems in individuals with Angelman syndrome. (15176919)
2004
26
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. (11543639)
2001
27
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
28
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. (10598802)
1999
29
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (10332034)
1999
30
Distinctive pattern of behavioral functioning in Angelman syndrome. (10450464)
1999
31
Genetics of Angelman syndrome. (10364509)
1999
32
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. (9931342)
1999
33
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. (10647895)
1999
34
Mutation analysis of UBE3A in Angelman syndrome patients. (9585605)
1998
35
Genetic counseling in Angelman syndrome: the challenges of multiple causes. (9557895)
1998
36
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (9110176)
1997
37
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. (9460799)
1997
38
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. (9288101)
1997
39
DNA methylation pattern in Angelman syndrome. (8655072)
1995
40
Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. (7807743)
1994
41
Precocious puberty in a case with probable Angelman syndrome. (7943614)
1994
42
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. (8486372)
1993
43
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. (8266996)
1993
44
Regional cerebral blood flow in Angelman syndrome. (8370386)
1993
45
Papers presented at the 2nd North American Conference on Angelman Syndrome. Orlando, Florida, August 1-4, 1991. (8098582)
1993
46
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. (8326502)
1993
47
Epilepsy in Angelman syndrome associated with chromosome 15q deletion. (1464268)
1992
48
Angelman syndrome. (1619637)
1992
49
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. (1971993)
1990
50
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. (2786338)
1989

Variations for Angelman Syndrome

About this section

Clinvar genetic disease variations for Angelman Syndrome:

5 (show all 132)
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_004992.3(MECP2): c.397C> T (p.Arg133Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
2MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
3MECP2NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
4MECP2NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter)single nucleotide variantPathogenicrs61748396GRCh37Chr X, 153296856: 153296856
5UBE3ANM_130838.1(UBE3A): c.99delC (p.Cys34Valfs)deletionPathogenicrs587780565GRCh38Chr 15, 25375667: 25375667
6UBE3ANM_130838.1(UBE3A): c.199_202dupAAAG (p.Gly68Glufs)duplicationPathogenicrs587780566GRCh38Chr 15, 25375564: 25375567
7UBE3ANM_130838.1(UBE3A): c.263_264delTA (p.Ile88Lysfs)deletionPathogenicrs587780567GRCh38Chr 15, 25375502: 25375503
8UBE3ANM_130838.1(UBE3A): c.275dupA (p.Lys93Glufs)duplicationPathogenicrs587780568GRCh38Chr 15, 25375491: 25375491
9UBE3ANM_130838.1(UBE3A): c.277_280delAAAG (p.Lys93Alafs)deletionPathogenicrs587780569GRCh38Chr 15, 25375486: 25375489
10UBE3ANM_130838.1(UBE3A): c.312_315delCTTA (p.Tyr104Terfs)deletionPathogenicrs587780570GRCh38Chr 15, 25371799: 25371802
11UBE3ANM_130838.1(UBE3A): c.362_363delAG (p.Glu121Glyfs)deletionPathogenicrs587780571GRCh38Chr 15, 25371751: 25371752
12UBE3ANM_130838.1(UBE3A): c.403dupT (p.Ser135Phefs)duplicationPathogenicrs587780572GRCh38Chr 15, 25371711: 25371711
13UBE3ANM_130838.1(UBE3A): c.547delG (p.Asp183Thrfs)deletionPathogenicrs587780573GRCh37Chr 15, 25616714: 25616714
14UBE3ANM_130838.1(UBE3A): c.580dupA (p.Ser194Lysfs)duplicationPathogenicrs587780574GRCh38Chr 15, 25371534: 25371534
15UBE3ANM_130838.1(UBE3A): c.688G> T (p.Glu230Ter)single nucleotide variantPathogenicrs587780575GRCh38Chr 15, 25371426: 25371426
16UBE3ANM_130838.1(UBE3A): c.717T> A (p.Tyr239Ter)single nucleotide variantPathogenicrs587780576GRCh38Chr 15, 25371397: 25371397
17UBE3ANM_130838.1(UBE3A): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenic, Pathogenicrs587780577GRCh38Chr 15, 25405461: 25405461
18UBE3ANM_130838.1(UBE3A): c.302-2A> Tsingle nucleotide variantPathogenicrs587780578GRCh38Chr 15, 25371814: 25371814
19UBE3ANM_130838.1(UBE3A): c.1694-2A> Gsingle nucleotide variantPathogenicrs587780579GRCh38Chr 15, 25356898: 25356898
20UBE3ANM_130838.1(UBE3A): c.2065-2A> Csingle nucleotide variantPathogenicrs587780580GRCh38Chr 15, 25354685: 25354685
21UBE3ANM_130838.1(UBE3A): c.2558A> T (p.Ter853Leu)single nucleotide variantPathogenicrs76794400GRCh38Chr 15, 25339138: 25339138
22UBE3ANM_130838.1(UBE3A): c.635A> T (p.Asp212Val)single nucleotide variantPathogenicrs587780581GRCh38Chr 15, 25371479: 25371479
23UBE3ANM_130838.1(UBE3A): c.710T> C (p.Leu237Pro)single nucleotide variantPathogenicrs587780582GRCh38Chr 15, 25371404: 25371404
24UBE3ANM_130838.1(UBE3A): c.788T> G (p.Leu263Trp)single nucleotide variantPathogenicrs587780583GRCh38Chr 15, 25371326: 25371326
25UBE3ANM_130838.1(UBE3A): c.1373C> T (p.Pro458Leu)single nucleotide variantPathogenicrs587780584GRCh38Chr 15, 25370741: 25370741
26UBE3ANM_130838.1(UBE3A): c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del)deletionPathogenicrs587780585GRCh38Chr 15, 25370735: 25370749
27MECP2NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs)deletionPathogenicrs63749748GRCh37Chr X, 153296079: 153296122
28MECP2NM_004992.3(MECP2): c.302C> G (p.Pro101Arg)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
29CDKL5NM_003159.2(CDKL5): c.902_903dupGA (p.Leu302Aspfs)duplicationPathogenicrs267608546GRCh37Chr X, 18616658: 18616659
30UBE3ANM_130838.1(UBE3A): c.750T> A (p.Tyr250Ter)single nucleotide variantPathogenicrs587781190GRCh38Chr 15, 25371364: 25371364
31UBE3ANM_130838.1(UBE3A): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs587781191GRCh38Chr 15, 25371153: 25371153
32UBE3ANM_130838.1(UBE3A): c.972_978delTACTTAT (p.Thr325Lysfs)deletionPathogenicrs587781192GRCh38Chr 15, 25371136: 25371142
33UBE3ANM_130838.1(UBE3A): c.1067dupA (p.Tyr356Terfs)duplicationPathogenicrs587781193GRCh38Chr 15, 25371047: 25371047
34UBE3ANM_130838.1(UBE3A): c.1076dupA (p.Asn359Lysfs)duplicationPathogenicrs587781194GRCh38Chr 15, 25371038: 25371038
35UBE3ANM_130838.1(UBE3A): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs587781195GRCh37Chr 15, 25616147: 25616147
36UBE3ANM_130838.1(UBE3A): c.1201C> T (p.Arg401Ter)single nucleotide variantPathogenicrs587781196GRCh38Chr 15, 25370913: 25370913
37UBE3ANM_130838.1(UBE3A): c.1270G> T (p.Glu424Ter)single nucleotide variantPathogenicrs587781197GRCh38Chr 15, 25370844: 25370844
38UBE3ANM_130838.1(UBE3A): c.1285G> T (p.Glu429Ter)single nucleotide variantPathogenicrs587781198GRCh38Chr 15, 25370829: 25370829
39UBE3ANM_130838.1(UBE3A): c.1355dupT (p.Ser453Leufs)duplicationPathogenicrs587781199GRCh38Chr 15, 25370759: 25370759
40UBE3ANM_130838.1(UBE3A): c.1361_1362delTT (p.Phe454Tyrfs)deletionPathogenicrs587781200GRCh38Chr 15, 25370752: 25370753
41UBE3ANM_130838.1(UBE3A): c.1371T> A (p.Cys457Ter)single nucleotide variantPathogenicrs587781201GRCh38Chr 15, 25370743: 25370743
42UBE3ANM_130838.1(UBE3A): c.1387delG (p.Ala463Leufs)deletionPathogenicrs587781202GRCh38Chr 15, 25370727: 25370727
43UBE3ANM_130838.1(UBE3A): c.1505_1506delTC (p.Leu502Glnfs)deletionPathogenicrs587781203GRCh38Chr 15, 25370608: 25370609
44UBE3ANM_130838.1(UBE3A): c.1537dupG (p.Ala513Glyfs)duplicationPathogenicrs587781204GRCh38Chr 15, 25370577: 25370577
45UBE3ANM_130838.1(UBE3A): c.1571dupA (p.Asn524Lysfs)duplicationPathogenicrs587781205GRCh38Chr 15, 25360505: 25360505
46UBE3ANM_130838.1(UBE3A): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs587781206GRCh38Chr 15, 25360468: 25360468
47UBE3ANM_130838.1(UBE3A): c.1639_1642dupGTTT (p.Ser548Cysfs)duplicationPathogenicrs587781207GRCh38Chr 15, 25360434: 25360437
48UBE3ANM_130838.1(UBE3A): c.1730G> A (p.Trp577Ter)single nucleotide variantPathogenicrs587781208GRCh38Chr 15, 25356860: 25356860
49UBE3ANM_130838.1(UBE3A): c.1814_1824delTACTGGATGTA (p.Ile605Thrfs)deletionPathogenicrs587781209GRCh38Chr 15, 25356766: 25356776
50UBE3ANM_130838.1(UBE3A): c.1912_1913delAG (p.Ser638Phefs)deletionPathogenicrs587781210GRCh38Chr 15, 25356043: 25356044
51UBE3ANM_130838.1(UBE3A): c.1956_1963delCATGATGA (p.Met653Hisfs)deletionPathogenicrs587781211GRCh38Chr 15, 25355993: 25356000
52UBE3ANM_130838.1(UBE3A): c.1957dupA (p.Met653Asnfs)duplicationPathogenicrs587781212GRCh38Chr 15, 25355999: 25355999
53UBE3ANM_130838.1(UBE3A): c.1972C> T (p.Gln658Ter)single nucleotide variantPathogenicrs587781213GRCh38Chr 15, 25355984: 25355984
54UBE3ANM_130838.1(UBE3A): c.1972delC (p.Gln658Argfs)deletionPathogenicrs587781214GRCh38Chr 15, 25355984: 25355984
55UBE3ANM_130838.1(UBE3A): c.2102_2103insTATT (p.Lys701Asnfs)insertionPathogenicrs587781215GRCh38Chr 15, 25354645: 25354646
56UBE3ANM_130838.1(UBE3A): c.2170_2174dupAAGTA (p.Tyr725Terfs)duplicationPathogenicrs587781216GRCh38Chr 15, 25354574: 25354578
57UBE3ANM_130838.1(UBE3A): c.2177T> A (p.Leu726Ter)single nucleotide variantPathogenicrs587781217GRCh38Chr 15, 25354571: 25354571
58UBE3ANM_130838.1(UBE3A): c.2186delC (p.Pro729Glnfs)deletionPathogenicrs587781218GRCh38Chr 15, 25354562: 25354562
59UBE3ANM_130838.1(UBE3A): c.2233C> T (p.Gln745Ter)single nucleotide variantPathogenicrs587781219GRCh38Chr 15, 25354414: 25354414
60UBE3ANM_130838.1(UBE3A): c.2245G> T (p.Glu749Ter)single nucleotide variantPathogenicrs587781220GRCh38Chr 15, 25354402: 25354402
61UBE3ANM_130838.1(UBE3A): c.2245delG (p.Glu749Lysfs)deletionPathogenicrs587781221GRCh38Chr 15, 25354402: 25354402
62UBE3ANM_130838.1(UBE3A): c.2247_2251dupAACTA (p.Thr751Lysfs)duplicationPathogenicrs587781222GRCh38Chr 15, 25354396: 25354400
63UBE3ANM_130838.1(UBE3A): c.2289dupG (p.Ile764Aspfs)duplicationPathogenicrs587781223GRCh38Chr 15, 25354358: 25354358
64UBE3ANM_130838.1(UBE3A): c.2344_2345delTT (p.Phe782Leufs)deletionPathogenicrs587781224GRCh38Chr 15, 25340178: 25340179
65UBE3ANM_130838.1(UBE3A): c.2370_2373delCAGA (p.Asp790Glufs)deletionPathogenicrs587781225GRCh38Chr 15, 25340150: 25340153
66UBE3ANM_130838.1(UBE3A): c.2463_2521dup59 (p.Lys841Ilefs)duplicationPathogenicGRCh38Chr 15, 25339175: 25339233
67UBE3ANM_130838.1(UBE3A): c.2474T> A (p.Leu825Ter)single nucleotide variantPathogenicrs587781226GRCh38Chr 15, 25339222: 25339222
68UBE3ANM_130838.1(UBE3A): c.2478delT (p.Pro827Argfs)deletionPathogenicrs587781227GRCh38Chr 15, 25339218: 25339218
69UBE3ANM_130838.1(UBE3A): c.2487_2554del68 (p.Ser830Valfs)deletionPathogenicGRCh38Chr 15, 25339142: 25339209
70UBE3ANM_130838.1(UBE3A): c.2489C> G (p.Ser830Ter)single nucleotide variantPathogenicrs587781228GRCh38Chr 15, 25339207: 25339207
71UBE3ANM_130838.1(UBE3A): c.2497_2500dupGAAA (p.Lys834Argfs)duplicationPathogenicrs587781229GRCh38Chr 15, 25339196: 25339199
72UBE3ANM_130838.1(UBE3A): c.2503_2506dupCTTA (p.Lys836Thrfs)duplicationPathogenicrs587781230GRCh38Chr 15, 25339190: 25339193
73UBE3ANM_130838.1(UBE3A): c.2507_2508delAA (p.Lys836Argfs)deletionPathogenicrs587781231GRCh38Chr 15, 25339188: 25339189
74UBE3ANM_130838.1(UBE3A): c.2556_*6delGTAAAACAAAdeletionPathogenicrs587781232GRCh38Chr 15, 25339131: 25339140
75UBE3ANM_130838.1(UBE3A): c.1633G> A (p.Gly545Arg)single nucleotide variantPathogenicrs587781233GRCh38Chr 15, 25360443: 25360443
76UBE3ANM_130838.1(UBE3A): c.1745_1747delCTT (p.Ser582del)deletionLikely pathogenic, Pathogenicrs587781234GRCh38Chr 15, 25356843: 25356845
77UBE3ANM_130838.1(UBE3A): c.1750G> C (p.Glu584Gln)single nucleotide variantPathogenicrs587781235GRCh38Chr 15, 25356840: 25356840
78UBE3ANM_130838.1(UBE3A): c.1967C> T (p.Thr656Ile)single nucleotide variantPathogenicrs587781236GRCh38Chr 15, 25355989: 25355989
79UBE3ANM_130838.1(UBE3A): c.2069T> G (p.Phe690Cys)single nucleotide variantPathogenicrs587781237GRCh38Chr 15, 25354679: 25354679
80UBE3ANM_130838.1(UBE3A): c.2406_2408delGAT (p.Met802del)deletionPathogenicrs587781238GRCh37Chr 15, 25585262: 25585264
81UBE3ANM_130838.1(UBE3A): c.2480C> T (p.Pro827Leu)single nucleotide variantPathogenicrs587781239GRCh38Chr 15, 25339216: 25339216
82UBE3ANM_130838.1(UBE3A)duplicationPathogenicrs587781240GRCh38Chr 15, 25339189: 25339209
83UBE3ANM_130838.1(UBE3A): c.317C> A (p.Thr106Lys)single nucleotide variantLikely pathogenic, Pathogenicrs587781241GRCh38Chr 15, 25371797: 25371797
84UBE3ANM_130838.1(UBE3A): c.710T> A (p.Leu237His)single nucleotide variantLikely pathogenicrs587780582GRCh38Chr 15, 25371404: 25371404
85UBE3ANM_130838.1(UBE3A): c.1304T> C (p.Leu435Pro)single nucleotide variantLikely pathogenicrs587781242GRCh38Chr 15, 25370810: 25370810
86UBE3ANM_130838.1(UBE3A): c.1430G> C (p.Arg477Pro)single nucleotide variantLikely pathogenicrs587781243GRCh38Chr 15, 25370684: 25370684
87UBE3ANM_130838.1(UBE3A): c.1697T> A (p.Met566Lys)single nucleotide variantLikely pathogenicrs587781244GRCh38Chr 15, 25356893: 25356893
88UBE3ANM_130838.1(UBE3A): c.2503C> T (p.Leu835Phe)single nucleotide variantLikely pathogenicrs587783097GRCh38Chr 15, 25339193: 25339193
89UBE3ANM_130838.1(UBE3A): c.1090G> T (p.Glu364Ter)single nucleotide variantPathogenicrs587784508GRCh38Chr 15, 25371024: 25371024
90UBE3ANM_130838.1(UBE3A): c.1110_1113delTGAA (p.Asn370Lysfs)deletionPathogenicrs587784509GRCh38Chr 15, 25371001: 25371004
91UBE3ANM_130838.1(UBE3A): c.1347_1348delGA (p.Asn450Glnfs)deletionPathogenicrs587784512GRCh37Chr 15, 25615913: 25615914
92UBE3ANM_130838.1(UBE3A): c.1461_1468delCTACAGCT (p.Tyr488Serfs)deletionPathogenicrs587784513GRCh37Chr 15, 25615793: 25615800
93UBE3ANM_130838.1(UBE3A): c.1567G> T (p.Glu523Ter)single nucleotide variantPathogenicrs587784514GRCh38Chr 15, 25360509: 25360509
94UBE3ANM_130838.1(UBE3A): c.1599T> A (p.Tyr533Ter)single nucleotide variantPathogenicrs587784515GRCh38Chr 15, 25360477: 25360477
95UBE3ANM_130838.1(UBE3A): c.1634G> A (p.Gly545Glu)single nucleotide variantLikely pathogenicrs587784516GRCh38Chr 15, 25360442: 25360442
96UBE3ANM_130838.1(UBE3A): c.1688A> G (p.Asp563Gly)single nucleotide variantLikely pathogenicrs587784518GRCh38Chr 15, 25360388: 25360388
97UBE3ANM_130838.1(UBE3A): c.1726_1730delTTTTG (p.Phe576Valfs)deletionPathogenicrs587784519GRCh37Chr 15, 25602007: 25602011
98UBE3ANM_130838.1(UBE3A): c.1763A> G (p.Gln588Arg)single nucleotide variantLikely pathogenicrs587782919GRCh38Chr 15, 25356827: 25356827
99UBE3ANM_130838.1(UBE3A): c.1774_1777delATTG (p.Ile592Alafs)deletionPathogenicrs587784520GRCh37Chr 15, 25601960: 25601963
100UBE3ANM_130838.1(UBE3A): c.2485T> C (p.Tyr829His)single nucleotide variantPathogenicrs587784526GRCh38Chr 15, 25339211: 25339211
101UBE3ANM_130838.1(UBE3A): c.2507_2510delAAGA (p.Lys836Argfs)deletionPathogenicrs587784527GRCh37Chr 15, 25584333: 25584336
102UBE3ANM_130838.1(UBE3A): c.317_321delCAGAA (p.Thr106Argfs)deletionPathogenicrs587784529GRCh37Chr 15, 25616940: 25616944
103UBE3ANM_130838.1(UBE3A): c.380delT (p.Ile127Thrfs)deletionPathogenicrs587784530GRCh38Chr 15, 25371734: 25371734
104UBE3ANM_130838.1(UBE3A): c.388_399delATTGGAAGAGTT (p.Ile130_Val133del)deletionLikely pathogenicrs587784531GRCh37Chr 15, 25616862: 25616873
105UBE3ANM_130838.1(UBE3A): c.505_511delGAAAAGG (p.Glu169Lysfs)deletionPathogenicrs587784532GRCh37Chr 15, 25616750: 25616756
106UBE3ANM_130838.1(UBE3A): c.829G> T (p.Glu277Ter)single nucleotide variantPathogenicrs587784533GRCh38Chr 15, 25371285: 25371285
107UBE3ANM_130838.1(UBE3A): c.964C> T (p.Gln322Ter)single nucleotide variantPathogenicrs587784534GRCh38Chr 15, 25371150: 25371150
108UBE3ANM_130838.1(UBE3A): c.486_487insCT (p.Glu163Leufs)insertionPathogenicrs786200996GRCh37Chr 15, 25616774: 25616775
109MECP2NM_004992.3(MECP2): c.1159_1210del52 (p.Pro387Serfs)deletionPathogenicGRCh37Chr X, 153296069: 153296120
110UBE3ANM_130838.1(UBE3A): c.1762_1763delCA (p.Gln588Valfs)deletionPathogenicrs794727738GRCh38Chr 15, 25356827: 25356828
111more than 10NC_000015.9: g.(?_23730704)_(28530182_?)deldeletionPathogenicGRCh37Chr 15, 23730704: 28530182
112UBE3ANM_130838.1(UBE3A): c.2+1_2+2insAAinsertionPathogenicrs797046084GRCh38Chr 15, 25405459: 25405460
113UBE3ANM_130838.1(UBE3A): c.2178dupA (p.Phe727Ilefs)duplicationPathogenicrs797046085GRCh37Chr 15, 25599717: 25599717
114UBE3ANM_130838.1(UBE3A): c.2337_2340dupAAGA (p.Leu781Lysfs)duplicationPathogenicrs797046086GRCh38Chr 15, 25340183: 25340186
115UBE3ANM_130838.1(UBE3A): c.2463_2506dup44 (p.Lys836Ilefs)duplicationPathogenicrs587781230GRCh37Chr 15, 25584337: 25584380
116UBE3ANM_130838.1(UBE3A): c.2502dupA (p.Leu835Thrfs)duplicationPathogenicrs797046087GRCh37Chr 15, 25584341: 25584341
117UBE3ANM_130838.1(UBE3A): c.2503_2507dupCTTAA (p.Lys836Asnfs)duplicationPathogenicrs587781240GRCh37Chr 15, 25584336: 25584340
118UBE3ANM_130838.1(UBE3A): c.2547dupT (p.Gly850Trpfs)duplicationPathogenicrs797046088GRCh37Chr 15, 25584296: 25584296
119UBE3ANM_130838.1(UBE3A): c.2475_2478delACTT (p.Leu825Phefs)deletionLikely pathogenicGRCh37Chr 15, 25584365: 25584368
120UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenic
121UBE3AUBE3A, 5-BP DUPduplicationPathogenic
122UBE3AUBE3A, IVS9, A-G, -8single nucleotide variantPathogenic
123UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenic
124UBE3ANM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter)single nucleotide variantPathogenicrs111033594GRCh37Chr 15, 25616012: 25616012
125UBE3ANM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter)single nucleotide variantPathogenicrs111033595GRCh37Chr 15, 25585366: 25585366
126UBE3ANM_130838.1(UBE3A): c.316A> C (p.Thr106Pro)single nucleotide variantPathogenicrs111033596GRCh37Chr 15, 25616945: 25616945
127UBE3ANM_130838.1(UBE3A): c.389T> C (p.Ile130Thr)single nucleotide variantPathogenicrs111033597GRCh37Chr 15, 25616872: 25616872
128UBE3AUBE3A, 4-BP DEL, 3093AAGAdeletionPathogenic
129UBE3AUBE3A, 2-BP DEL, 1930AGdeletionPathogenic
130UBE3AUBE3A, 4-BP DUP, EX10, GAGGduplicationPathogenic
131UBE3ANM_130838.1(UBE3A): c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs)indelPathogenicrs398124438GRCh37Chr 15, 25615713: 25615714
132UBE3ANM_130838.1(UBE3A): c.2503_2506delCTTA (p.Leu835Lysfs)deletionPathogenicrs398124440GRCh37Chr 15, 25584337: 25584340

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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Pathways related to Angelman Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2NIPA1, NIPA2
210.1MBD4, SNURF, UBE3A
3
Show member pathways
10.1GABRA5, GABRB2, GABRB3
4
Show member pathways
10.1GABRA5, GABRB2, GABRB3
510.1GABRA5, GABRB2, GABRB3
610.1GABRA5, GABRB2, GABRB3
7
Show member pathways
10.0ATP10A, GABRA5, GABRB2, GABRB3
8
Show member pathways
9.6ATP10A, GABRA5, GABRB2, GABRB3, NIPA1, NIPA2

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
1GABA-A receptor complexGO:190271110.7GABRA5, GABRB2, GABRB3
2chloride channel complexGO:003470710.4GABRA5, GABRB2, GABRB3
3early endosomeGO:000576910.0MAGEL2, NIPA1, NIPA2, SLC9A6
4synapseGO:00452029.9GABRA5, GABRB2, GABRB3, SLC9A6
5neuron projectionGO:00430059.9GABRA5, GABRB2, GABRB3, PARK2

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1startle responseGO:000196410.9MECP2, PARK2
2gamma-aminobutyric acid signaling pathwayGO:000721410.8GABRA5, GABRB2
3innervationGO:006038410.7GABRA5, GABRB2, GABRB3
4magnesium ion transportGO:001569310.7NIPA1, NIPA2
5magnesium ion transmembrane transportGO:190383010.7NIPA1, NIPA2
6axon extensionGO:004867510.7NDN, SLC9A6
7regulation of neuron apoptotic processGO:004352310.7GABRA5, GABRB2, GABRB3
8cochlea developmentGO:009010210.6GABRA5, GABRB2, GABRB3
9inner ear receptor cell developmentGO:006011910.6GABRA5, GABRB2, GABRB3
10neurological system processGO:005087710.5GABRA5, GABRB2, GABRB3
11chloride transmembrane transportGO:190247610.5GABRA5, GABRB2, GABRB3
12negative regulation of neuron deathGO:190121510.4GABRB2, GABRB3, PARK2
13cellular response to histamineGO:007142010.4GABRB2, GABRB3
14ion transmembrane transportGO:003422010.4ATP10A, GABRA5, GABRB2, GABRB3
15protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:004278710.3HUWE1, PARK2, UBE3A
16ion transportGO:000681110.3GABRA5, GABRB2, GABRB3, SLC9A6
17protein monoubiquitinationGO:000651310.2HUWE1, PARK2
18regulation of membrane potentialGO:004239110.1GABRA5, GABRB2, GABRB3
19neuron developmentGO:004866610.0GABRA5, GABRB2, GABRB3, NDN
20negative regulation of neuron apoptotic processGO:00435249.9GABRA5, GABRB2, GABRB3, MECP2, PARK2
21transmembrane transportGO:00550859.9ATP10A, GABRA5, GABRB2, GABRB3, NIPA1, SLC9A6
22sensory perception of soundGO:00076059.8GABRA5, GABRB2, GABRB3

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

idNameGO IDScoreTop Affiliating Genes
1inhibitory extracellular ligand-gated ion channel activityGO:000523710.7GABRA5, GABRB2
2GABA-A receptor activityGO:000489010.6GABRA5, GABRB2, GABRB3
3magnesium ion transmembrane transporter activityGO:001509510.4NIPA1, NIPA2
4extracellular ligand-gated ion channel activityGO:000523010.3GABRA5, GABRB2, GABRB3
5chloride channel activityGO:000525410.1GABRA5, GABRB2, GABRB3
6ubiquitin-protein transferase activityGO:00048429.9HUWE1, MAGEL2, PARK2, UBE3A

Sources for Angelman Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet