AS
MCID: ANG001
MIFTS: 70

Angelman Syndrome (AS) malady

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

Summaries for Angelman Syndrome

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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 depressed premaxillary region/midface, face/facial anomalies and macrostomia/big mouth. An important gene associated with Angelman Syndrome is ANCR (Angelman syndrome chromosome region), and among its related pathways are GABA signaling in brain and Gastric cancer network 2. The compounds hpaii and gaba have been mentioned in the context of this disorder. Affiliated tissues include tongue, testes and brain, and related mouse phenotype reproductive system.

NIH Rare Diseases:44 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:66 Angelman syndrome (/?e?nd??lm?n/; abbreviated AS) is a neuro-genetic disorder characterized by severe... more...

Description from OMIM:48 105830

GeneReviews summary for angelman

Aliases & Classifications for Angelman Syndrome

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
angelman syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

angelman syndrome 9 10 66 20 44 21 23 22 45 48 11 46 50 63
as 66 44 22
happy puppet syndrome 9 44
androgen-insensitivity syndrome 63
testicular feminization 63
puppetlike syndrome 9


External Ids:

Disease Ontology9 DOID:1932
MeSH36 D017204
OMIM48 105830
MESH via Orphanet37 D017204
SNOMED-CT59 76880004
ICD10 via Orphanet27 Q93.5
SNOMED-CT via Orphanet60 76880004
UMLS via Orphanet64 C0162635

Related Diseases for Angelman Syndrome

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18GeneCards, 19GeneDecks
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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 5600)
idRelated DiseaseScoreTop Affiliating Genes
1prader-willi syndrome31.0GABRB3, UBE3A, MAGEL2, SNURF, SNRPN, MECP2
2mental retardation30.7CYFIP1, MECP2, SNRPN, UBE3A, MBD4
3intellectual disability30.3CYFIP1, MECP2, UBE3A
4autistic disorder30.2MBD4, GABRB3, UBE3A, MECP2
5pervasive developmental disorder30.2GABRB3, MECP2
6rett syndrome30.2MECP2, UBE3A, GABRB3, MBD4
7fragile x syndrome30.1MECP2, CYFIP1
8developmental disabilities30.0UBE3A, MECP2
9epilepsy syndrome29.8MECP2, UBE3A, GABRB3
10leukemia10.9
11breast cancer10.9
12prostatitis10.9
13pancreatitis10.8
14adenocarcinoma10.8
15endotheliitis10.8
16prostate cancer10.8
17hypertension10.8
18lung cancer10.8
19cervicitis10.7
20melanoma10.7
21arthritis10.7
22colorectal cancer10.7
23sarcoma10.7
24retinitis10.7
25tuberculosis10.7
26hepatocellular carcinoma10.7
27aneurysm10.7
28myocardial infarction10.7
29lupus erythematosus10.6
30alzheimer's disease10.6
31esophagitis10.6
32ovarian cancer10.6
33meningitis10.6
34rheumatoid arthritis10.6
35adenoma10.6
36pneumonia10.6
37neuropathy10.6
38systemic lupus erythematosus10.6
39diabetes mellitus10.6
40myeloid leukemia10.6
41schizophrenia10.6
42asthma10.6
43myeloma10.6
44renal cell carcinoma10.6
45atherosclerosis10.6
46sepsis10.6
47encephalitis10.6
48ischemia10.5
49dermatitis10.5
50hepatitis c10.5

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



Diseases related to angelman syndrome

Symptoms for Angelman Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

105830

Clinical features from OMIM:

105830

Symptoms:

50 (show all 21)
  • depressed premaxillary region/midface
  • face/facial anomalies
  • macrostomia/big mouth
  • insterstitial/subtelomeric microdeletion/deletion
  • strabismus/squint
  • brachycephaly/flat occiput
  • anomalies of eyes and vision
  • microcephaly
  • 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
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy

Drugs & Therapeutics for Angelman Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Angelman Syndrome:

id Genetic test Affiliating Genes
1 Angelman Syndrome21 23 UBE3A

Anatomical Context for Angelman Syndrome

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34MalaCards
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MalaCards organs/tissues related to Angelman Syndrome:

34
Tongue, Testes, Brain, Eye, Fetal brain, Bone, Thyroid, Cortex

Animal Models for Angelman Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Angelman Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.9GABRB3, UBE3A, MAGEL2, SNRPN, MECP2, OCA2

Publications for Angelman Syndrome

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53PubMed
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Articles related to Angelman Syndrome:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
Use and acceptance of AAC systems by children with Angelman syndrome. (23606637)
2013
2
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. (23283345)
2013
3
Impairment of TrkB-PSD-95 signaling in Angelman syndrome. (23424281)
2013
4
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. (22381732)
2012
5
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. (21831244)
2012
6
Understanding the pathogenesis of Angelman syndrome through animal models. (22830052)
2012
7
Sudden death and Angelman syndrome. (21854386)
2012
8
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. (22174738)
2011
9
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. (21592595)
2011
10
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. (20692323)
2010
11
Clinical and genetic aspects of Angelman syndrome. (20445456)
2010
12
Parents' priorities for AAC and related instruction for their children with Angelman Syndrome. (20196702)
2010
13
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. (19605773)
2010
14
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. (18996915)
2009
15
Benefit of corticosteroid therapy in Angelman syndrome. (19666884)
2009
16
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. (18384537)
2008
17
Angelman syndrome: clinical findings and follow-up data of 14 patients. (18664077)
2008
18
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. (17394213)
2007
19
Molecular epigenetics of Angelman syndrome. (17347796)
2007
20
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (15014980)
2004
21
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
22
Sleep problems in individuals with Angelman syndrome. (15176919)
2004
23
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. (11543639)
2001
24
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
25
Problem behaviors associated with 15q- Angelman syndrome. (10683706)
2000
26
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. (10598802)
1999
27
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (10332034)
1999
28
Distinctive pattern of behavioral functioning in Angelman syndrome. (10450464)
1999
29
Genetics of Angelman syndrome. (10364509)
1999
30
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
31
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. (10647895)
1999
32
Mutation analysis of UBE3A in Angelman syndrome patients. (9585605)
1998
33
Genetic counseling in Angelman syndrome: the challenges of multiple causes. (9557895)
1998
34
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (9110176)
1997
35
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. (9460799)
1997
36
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. (9288101)
1997
37
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. (8698070)
1996
38
DNA methylation pattern in Angelman syndrome. (8655072)
1995
39
Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor. (7807743)
1994
40
Precocious puberty in a case with probable Angelman syndrome. (7943614)
1994
41
Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. (8486372)
1993
42
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. (8266996)
1993
43
Regional cerebral blood flow in Angelman syndrome. (8370386)
1993
44
Papers presented at the 2nd North American Conference on Angelman Syndrome. Orlando, Florida, August 1-4, 1991. (8098582)
1993
45
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. (8326502)
1993
46
Hypopigmentation in Angelman syndrome. (8494033)
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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Angelman Syndrome:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenic/card/angelman_syndrome
2UBE3AUBE3A, 5-BP DUPduplicationPathogenic/card/angelman_syndrome
3UBE3AUBE3A, IVS9, A-G, -8single nucleotide variantPathogenic/card/angelman_syndrome
4UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenic/card/angelman_syndrome
5UBE3ANM_130838.1(UBE3A): c.1249C> T (p.Arg417Ter)single nucleotide variantPathogenicrs111033594GRCh37Chr 15, 25616012: 25616012
6UBE3ANM_130838.1(UBE3A): c.2304G> A (p.Trp768Ter)single nucleotide variantPathogenicrs111033595GRCh37Chr 15, 25585366: 25585366
7UBE3ANM_130838.1(UBE3A): c.316A> C (p.Thr106Pro)single nucleotide variantPathogenicrs111033596GRCh37Chr 15, 25616945: 25616945
8UBE3ANM_130838.1(UBE3A): c.389T> C (p.Ile130Thr)single nucleotide variantPathogenicrs111033597GRCh37Chr 15, 25616872: 25616872
9UBE3AUBE3A, 4-BP DEL, 3093AAGAdeletionPathogenic
10UBE3AUBE3A, 2-BP DEL, 1930AGdeletionPathogenic
11UBE3AUBE3A, 4-BP DUP, EX10, GAGGduplicationPathogenic

Expression for genes affiliated with Angelman Syndrome

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore, 55R&D Systems, 39NCBI BioSystems Database
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Pathways related to Angelman Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.3GABRB3, MECP2
210.3SNURF, SNRPN

Compounds for genes affiliated with Angelman Syndrome

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46Novoseek, 25HMDB
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Compounds related to Angelman Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hpaii4610.3MECP2, SNRPN
2gaba4610.2MECP2, UBE3A, GABRB3
35-methylcytosine46 2511.2MECP2, MBD4
45-aza-2deoxycytidine469.9MECP2, SNRPN, MBD4

GO Terms for genes affiliated with Angelman Syndrome

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17Gene Ontology
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Molecular functions related to Angelman Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1magnesium ion transmembrane transporter activityGO:01509510.1NIPAL1, NIPA2, NIPAL4, NIPA1

Products for genes affiliated with Angelman Syndrome

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Sources for Angelman Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet