AS
MCID: ANG001
MIFTS: 70

Angelman Syndrome (AS) malady

Neuronal diseases, Reproductive diseases categories

Summaries for Angelman Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 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 epilepsy syndrome, and has symptoms including macrostomia/big mouth, abnormal dentition/dental position/implantation/unerupted/dental ankylosis 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, testes and brain.

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.

NIH Rare Diseases:42 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

Wikipedia:63 Angelman syndrome (/ˈeɪndʒəlmən/; abbreviated AS) is a neuro-genetic disorder characterized by... more...

Description from OMIM:46 105830

GeneReviews summary for angelman

Aliases & Classifications for Angelman Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
angelman syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

angelman syndrome 8 9 63 19 42 20 22 21 43 46 10 44 48 60
as 63 42 21
happy puppet syndrome 8 42
androgen-insensitivity syndrome 60
testicular feminization 60
puppetlike syndrome 8


External Ids:

Disease Ontology8 DOID:1932
OMIM46 105830
MeSH34 D017204
MESH via Orphanet35 D017204
SNOMED-CT56 76880004
ICD10 via Orphanet26 Q93.5
SNOMED-CT via Orphanet57 76880004
UMLS via Orphanet61 C0162635

Related Diseases for Angelman Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Angelman Syndrome family:

Mecp2-Related Angelman-Like Syndrome Cdkl5-Related Angelman-Like Syndrome
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 5208)
idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome31.4CYFIP1, OCA2, ATP10A, SNRPN, SNURF, MECP2
2epilepsy syndrome30.9MECP2, GABRB3, UBE3A
3microcephaly30.3UBE3A, MECP2
4paraplegia30.3NIPA1
5intellectual disability30.2CYFIP1, MECP2, UBE3A
6autistic disorder30.1UBE3A, MBD4, GABRB3, MECP2
7rett syndrome30.0MECP2, GABRB3, MBD4, UBE3A
8pervasive developmental disorder30.0MECP2, GABRB3
9mental retardation29.4UBE3A, MBD4, MECP2, SNRPN, CYFIP1
10atypical autism29.4GABRB3
11leukemia10.9
12breast cancer10.9
13prostatitis10.8
14pancreatitis10.8
15adenocarcinoma10.8
16prostate cancer10.8
17acute leukemia10.7
18lung cancer10.7
19hypertension10.7
20squamous cell carcinoma10.7
21cervicitis10.7
22melanoma10.7
23colorectal cancer10.7
24arthritis10.7
25sarcoma10.7
26retinitis10.7
27tuberculosis10.6
28hepatocellular carcinoma10.6
29myocardial infarction10.6
30lupus erythematosus10.6
31alzheimer's disease10.6
32ovarian cancer10.6
33esophagitis10.6
34meningitis10.6
35rheumatoid arthritis10.6
36complete androgen insensitivity syndrome10.6
37myeloid leukemia10.6
38systemic lupus erythematosus10.6
39adenoma10.6
40neuropathy10.6
41pneumonia10.6
42diabetes mellitus10.6
43schizophrenia10.6
44renal cell carcinoma10.6
45asthma10.5
46myeloma10.5
47atherosclerosis10.5
48encephalitis10.5
49hepatitis c10.5
50ischemia10.5

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



Diseases related to angelman syndrome

Clinical Features for Angelman Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

105830

Clinical synopsis from OMIM:

105830

Symptoms:

48 (show all 21)
  • macrostomia/big mouth
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hypereflexia
  • strabismus/squint
  • inguinal/inguinoscrotal/crural hernia
  • depressed premaxillary region/midface
  • insterstitial/subtelomeric microdeletion/deletion
  • psychic/behavioural troubles
  • 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
  • microcephaly

Drugs & Therapeutics for Angelman Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Angelman Syndrome:

32
Tongue, Testes, Brain, Eye, Cortex, Thyroid, Bone, Fetal brain

Animal Models for Angelman Syndrome or affiliated genes

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Publications for Angelman Syndrome

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50PubMed
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Articles related to Angelman Syndrome:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. (23283345)
2013
2
Screening of UBE3A gene in patients referred for Angelman Syndrome. (23416059)
2013
3
Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain. (23390487)
2013
4
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. (22720067)
2012
5
Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. (22131424)
2011
6
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. (21812100)
2011
7
Anesthesia of a dental patient with Angelman syndrome -A case report-. (20498802)
2010
8
Angelman syndrome and celiac disease. (20617869)
2010
9
Anesthetic management in a child with Angelman syndrome. (20642665)
2010
10
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. (20184619)
2010
11
Abnormal myelination in Angelman syndrome. (18573670)
2009
12
Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework. (19968524)
2009
13
What would the brain look like in Angelman syndrome? (18824378)
2009
14
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. (18384537)
2008
15
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. (18683396)
2008
16
Comments on a case report of Angelman syndrome anaesthesia. (18821896)
2008
17
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. (17975803)
2008
18
Screening of Prader-Willi syndrome and Angelman syndrome in school children with moderate to profound mental retardation in southern Taiwan. (17626606)
2007
19
Atypical cases of Angelman syndrome. (17036311)
2006
20
The behavioural phenotype of Angelman syndrome. (16316429)
2006
21
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome. (17009341)
2006
22
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. (15684868)
2004
23
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. (14510623)
2003
24
A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region. (12791044)
2003
25
Retinochoroidal atrophy in two adult patients with Angelman syndrome. (12955768)
2003
26
Problems in detecting mosaic DNA methylation in Angelman syndrome. (14523374)
2003
27
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. (11977186)
2002
28
Adjunct diagnostic test for Angelman syndrome: the tuning fork response. (12376950)
2002
29
Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. (11851854)
2002
30
Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. (11198279)
2001
31
Problem behaviors associated with 15q- Angelman syndrome. (10683706)
2000
32
Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. (10712201)
2000
33
Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. (10592081)
1999
34
The spectrum of mutations in UBE3A causing Angelman syndrome. (9887341)
1999
35
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. (9891052)
1999
36
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. (10196695)
1999
37
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. (9792887)
1998
38
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. (9605586)
1998
39
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. (9460799)
1997
40
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. (9017532)
1997
41
UBE3A/E6-AP mutations cause Angelman syndrome. (8988171)
1997
42
A candidate model for Angelman syndrome in the mouse. (9195990)
1997
43
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. (8698070)
1996
44
On the prevalence of Angelman syndrome. (8599374)
1995
45
Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. (7807743)
1994
46
Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. (8188222)
1994
47
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. (7684188)
1993
48
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. (1360768)
1992
49
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. (1608955)
1992
50
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. (2786338)
1989

Genetic Variations for Angelman Syndrome

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Expression for genes affiliated with Angelman Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI 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

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44Novoseek, 24HMDB
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Compounds related to Angelman Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine4410.8SNRPN, MECP2, MBD4
2hpaii4410.6SNRPN, MECP2
35-methylcytosine44 2411.4MECP2, MBD4

GO Terms for genes affiliated with Angelman Syndrome

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16Gene Ontology
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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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Sources for Angelman Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet