AS
MCID: ANG001
MIFTS: 67

Angelman Syndrome (AS) malady

Neuronal, Reproductive categories

Summaries for Angelman Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 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.

MalaCards: Angelman Syndrome, also known as AS, is related to prader-willi syndrome and mental retardation, and has symptoms including cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, eeg anomalies and hypereflexia. An important gene associated with Angelman Syndrome is ANCR (Angelman syndrome chromosome region), and among its related pathways is Gastric cancer network 2. The compounds 5-aza-2deoxycytidine and hpaii have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and cortex.

NIH Rare Diseases:43 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

Genetics Home Reference:21 Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.

Wikipedia:64 Angelman syndrome (/ˈeɪndʒəlmən/; abbreviated AS) is a neuro-genetic disorder characterized by... more...

Description from OMIM:47 105830

GeneReviews summary for angelman

Aliases & Classifications for Angelman Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Reproductive


Characteristics (Orphanet epidemiological data):

49
angelman syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

angelman syndrome 8 9 64 19 43 20 22 21 44 47 10 45 49 61
as 64 43 21
testicular feminization 19 61
happy puppet syndrome 8 43
androgen-insensitivity syndrome 61
androgen resistance syndrome 19
puppetlike syndrome 8


External Ids:

Disease Ontology8 DOID:1932
OMIM47 105830
MeSH35 D017204
MESH via Orphanet36 D017204
SNOMED-CT57 76880004
ICD10 via Orphanet26 Q93.5
SNOMED-CT via Orphanet58 76880004
UMLS via Orphanet62 C0162635

Related Diseases for Angelman Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Angelman Syndrome family:

angelman syndrome-like 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/GeneDecks gene sharing:

(show top 50)    (show all 5417)
idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome31.4CYFIP1, OCA2, ATP10A, SNRPN, SNURF, MECP2
2mental retardation30.6UBE3A, MBD4, MECP2, SNRPN, CYFIP1
3microcephaly30.3UBE3A, MECP2
4autistic disorder30.1UBE3A, MBD4, GABRB3, MECP2
5rett syndrome30.0MECP2, GABRB3, MBD4, UBE3A
6atypical autism29.4GABRB3
7androgen insensitivity syndrome11.5
8complete androgen insensitivity syndrome11.2
9partial androgen insensitivity syndrome11.1
10n syndrome10.8
11acute leukemia10.8
12colorectal cancer10.7
13arthritis10.7
14tuberculosis10.6
15androgen insensitivity syndrome, mild10.6
16sertoli cell tumor10.6
17systemic lupus erythematosus10.6
18asthma10.6
19char syndrome10.6
20atherosclerosis10.5
21t-cell leukemia10.5
22sepsis10.5
23acute myocardial infarction10.5
24acute myeloid leukemia10.5
25adult syndrome10.5
26alzheimer's disease10.5
27vasculitis10.5
28hypoxia10.5
29sertoli-leydig cell tumor10.5
30coronary artery disease,10.5
31insulin resistance10.5
32vascular disease10.5
33aortic aneurysm10.4
34amyloidosis10.4
35cystic fibrosis10.4
36hepatitis c virus10.4
37hepatitis d10.4
38bladder carcinoma10.4
39cellulitis10.4
40micro syndrome10.4
41acute pancreatitis10.4
42hepatitis e10.4
43adenoma10.4
44headache10.4
45parkinson's disease10.4
46graft versus host disease10.4
47cardiac tamponade10.4
48uveitis10.4
49pemphigus10.4
50syphilis10.4

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



Diseases related to angelman syndrome

Clinical Features for Angelman Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

105830

Clinical synopsis from OMIM:

105830

Symptoms:

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

Drugs & Therapeutics for Angelman Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Angelman Syndrome

Drug clinical trials:

Search ClinicalTrials for Angelman Syndrome

Search NIH Clinical Center for Angelman Syndrome

Search CenterWatch for Angelman Syndrome

Genetic Tests for Angelman Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Angelman Syndrome:

id Genetic test Affiliating Genes
1 Angelman Syndrome20 22 UBE3A

Anatomical Context for Angelman Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Angelman Syndrome:

33
Tongue, Brain, Cortex, Skeletal muscle, Thyroid, T cells, Fetal brain, Fetal thyroid

Animal Models for Angelman Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Angelman Syndrome

Sources:
51PubMed
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Articles related to Angelman Syndrome:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Angelman syndrome. (23622177)
2013
2
Understanding the pathogenesis of Angelman syndrome through animal models. (22830052)
2012
3
Are children with Angelman syndrome at high risk for anesthetic complications? (21801274)
2012
4
Molecular and Clinical Aspects of Angelman Syndrome. (22670133)
2012
5
A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. (21362313)
2011
6
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. (22002941)
2011
7
Abnormal myelination in Angelman syndrome. (19720548)
2010
8
Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome? (22802472)
2010
9
Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. (19617463)
2009
10
Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. (19782683)
2009
11
Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial. (18539989)
2008
12
Long-standing fever and Angelman syndrome: report of two cases. (18416709)
2008
13
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. (17268193)
2007
14
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay. (17676602)
2007
15
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. (16023557)
2005
16
Germline mosaicism of a novel UBE3A mutation in Angelman syndrome. (16100729)
2005
17
Sleep disturbances in Angelman syndrome: a questionnaire study. (15130689)
2004
18
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. (15470370)
2004
19
Angelman syndrome: a review of the clinical and genetic aspects. (12566516)
2003
20
Mouse models of Angelman syndrome, a neurodevelopmental disorder, display different brain regional GABA(A) receptor alterations. (12672542)
2003
21
A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype. (12843333)
2003
22
Ophthalmic manifestations of Angelman syndrome. (10951304)
2000
23
Genetics of Angelman syndrome. (10364509)
1999
24
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. (10507736)
1999
25
Parental imprinting and Angelman syndrome. (10514831)
1999
26
Mutation analysis of UBE3A in Angelman syndrome patients. (9585605)
1998
27
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. (9843050)
1998
28
Imprinting in Angelman and Prader-Willi syndromes. (9691003)
1998
29
Angelman syndrome: how many genes to remain silent? (10732796)
1998
30
Angelman syndrome: are the estimates too low? (9856568)
1998
31
Parental view of epilepsy in Angelman syndrome: a questionnaire study. (10193256)
1998
32
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. (9288101)
1997
33
Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. (9042916)
1997
34
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. (8989460)
1996
35
Genes for Prader Willi syndrome/Angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression. (8910878)
1996
36
Angelman syndrome at an older age. (7677166)
1995
37
Angelman syndrome and vermian cyst. (7802023)
1994
38
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. (8168819)
1994
39
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. (8486372)
1993
40
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. (8326502)
1993
41
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. (8388764)
1993
42
Angelman Syndrome (20301323)
1993
43
Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. (1740313)
1992
44
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin? (1733842)
1992
45
Angelman syndrome: clinical profile. (1634750)
1992
46
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. (1538725)
1992
47
The mouse pink-eyed dilution gene: association with human Prader- Willi and Angelman syndromes. (1509264)
1992
48
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. (1985457)
1991
49
Cytogenetic and molecular study of Angelman syndrome. (2309778)
1990
50
The Angelman syndrome in two brothers. (7180875)
1982

Genetic Variations for Angelman Syndrome

Expression for genes affiliated with Angelman Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Angelman Syndrome

Search GEO for disease gene expression data for Angelman Syndrome.

Pathways for genes affiliated with Angelman Syndrome

Sources:
38NCBI BioSystems Database
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Pathways related to Angelman Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.7SNRPN, SNURF

Compounds for genes affiliated with Angelman Syndrome

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Angelman Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine4510.8SNRPN, MECP2, MBD4
2hpaii4510.6SNRPN, MECP2
35-methylcytosine45 2411.4MECP2, MBD4

GO Terms for genes affiliated with Angelman Syndrome

Sources:
16Gene Ontology
See all sources

Molecular functions related to Angelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1magnesium ion transmembrane transporter activityGO:01509510.9NIPAL4, NIPAL1, NIPA2, NIPA1

Products for genes affiliated with Angelman Syndrome

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  • Antibodies

Sources for Angelman Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet