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
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. (24434871)
2014
2
Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13. (24434231)
2014
3
Communication modality sampling for a toddler with Angelman syndrome. (24124202)
2013
4
Dental findings and special care in patients with Angelman syndrome: a report of three cases. (23278148)
2013
5
Functional analysis and functional communication training in individuals with Angelman syndrome. (22494082)
2012
6
Dental treatment in Angelman syndrome patients. 8 case reports. (23270298)
2012
7
Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. (22916201)
2012
8
Alterations in white matter pathways in Angelman syndrome. (21121904)
2011
9
Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall. (21865124)
2011
10
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. (20692323)
2010
11
Prader-Willi syndrome and Angelman syndrome. (20803659)
2010
12
Benefit of corticosteroid therapy in Angelman syndrome. (19666884)
2009
13
Epilepsy and the sleep-wake patterns found in Angelman syndrome. (19453716)
2009
14
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. (20033293)
2009
15
Are there distinctive sleep problems in Angelman syndrome? (17765640)
2008
16
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. (18378203)
2008
17
Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome. (18193166)
2008
18
Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. (17019625)
2007
19
Angelman syndrome revisited. (17848870)
2007
20
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. (17259980)
2007
21
Lamotrigine effect on GABA transmission in Angelman syndrome? (17692055)
2007
22
Sensory processing patterns in persons with Angelman syndrome. (16915878)
2006
23
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes. (17020468)
2006
24
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. (15796127)
2005
25
Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. (15590147)
2005
26
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (15014980)
2004
27
Postural rhythmic muscle bursting activity in Angelman syndrome. (15275702)
2004
28
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion. (15039970)
2004
29
Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. (12215253)
2002
30
Drowning as a cause of death in Angelman syndrome. (11806751)
2002
31
Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). (11807885)
2002
32
Distinct phenotypes distinguish the molecular classes of Angelman syndrome. (11748306)
2001
33
High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. (11673606)
2001
34
Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. (11078565)
2000
35
The imprinting box of the Prader-Willi/Angelman syndrome domain. (11101841)
2000
36
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
37
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. (9634532)
1998
38
Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. (9733292)
1998
39
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (9110176)
1997
40
Manifestations in institutionalised adults with Angelman syndrome due to deletion. (9182785)
1997
41
Angelman syndrome in an inbred family. (8786067)
1996
42
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. (7573182)
1995
43
Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. (7747771)
1995
44
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? (8030667)
1994
45
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. (8456836)
1993
46
Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. (8364575)
1993
47
Cytogenetic and molecular analysis in Angelman syndrome. (8098583)
1993
48
Deletion of 15q12 in Angelman syndrome: report of 3 new cases. (1486699)
1992
49
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. (1867202)
1991
50
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. (1971993)
1990

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