MCID: ANG001
MIFTS: 66

Angelman Syndrome malady

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

Summaries for Angelman Syndrome

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OMIM:45 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 microcephaly and mental retardation, and has symptoms including broad-based gait, clumsiness and abnormality of the tongue. 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, eye and testes, and related mouse phenotypes are nervous system and behavior/neurological.

NIH Rare Diseases:41 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:42 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: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:63 Angelman syndrome (/?e?nd??lm?n/; abbreviated AS) is a neuro-genetic disorder characterized by severe... more...

GeneReviews summary for angelman

Aliases & Classifications for Angelman Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Angelman Syndrome, Aliases & Descriptions:

Name: Angelman Syndrome 45 9 10 63 19 41 20 21 42 11 43 47 22 60
As 63 41 21
Angelman Syndrome-Like 45 22
 
Happy Puppet Syndrome 9 41
Puppetlike Syndrome 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 105830
Disease Ontology9 DOID:1932
MeSH33 D017204
Orphanet47 72
SNOMED-CT55 76880004
MESH via Orphanet34 D017204
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet61 C0162635

Related Diseases for Angelman Syndrome

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Diseases in the Angelman Syndrome family:

Mecp2-Related Angelman-Like Syndrome Cdkl5-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 5526)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly31.0CDKL5, UBE3A, MECP2
2mental retardation30.8MBD4, SNRPN, UBE3A, CYFIP1, CDKL5, MECP2
3brain disease30.7CDKL5, MBD4, MECP2
4autistic disorder30.7MECP2, UBE3A, GABRB3, MBD4
5prader-willi syndrome30.7ATP10A, CYFIP1, OCA2, MECP2, SNRPN, SNURF
6rett syndrome30.6CDKL5, MBD4, GABRB3, MECP2, UBE3A
7pervasive developmental disorder30.5MECP2, GABRB3
8west syndrome30.5MECP2, CDKL5
9developmental disabilities30.5UBE3A, MECP2
10epilepsy syndrome30.2UBE3A, MECP2, GABRB3, CDKL5
11fragile x syndrome30.1MECP2, CYFIP1
12leukemia11.0
13breast cancer10.9
14prostatitis10.9
15pancreatitis10.8
16adenocarcinoma10.8
17endotheliitis10.8
18prostate cancer10.8
19lung cancer10.8
20cervicitis10.8
21melanoma10.8
22colorectal cancer10.8
23arthritis10.8
24sarcoma10.7
25retinitis10.7
26tuberculosis10.7
27hepatocellular carcinoma10.7
28aneurysm10.7
29lupus erythematosus10.7
30myocardial infarction10.7
31esophagitis10.7
32rheumatoid arthritis10.6
33meningitis10.6
34systemic lupus erythematosus10.6
35adenoma10.6
36neuropathy10.6
37pneumonia10.6
38myeloid leukemia10.6
39schizophrenia10.6
40renal cell carcinoma10.6
41myeloma10.6
42asthma10.6
43encephalitis10.6
44atherosclerosis10.6
45dermatitis10.6
46hepatitis c10.6
47multiple myeloma10.6
48ischemia10.6
49dementia10.6
50mesothelioma10.6

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



Diseases related to angelman syndrome

Symptoms for Angelman Syndrome

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Symptoms by clinical synopsis from OMIM:

105830

Clinical features from OMIM:

105830

Symptoms:

 47 (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 62)
id Description Frequency HPO Source Accession
1 broad-based gait hallmark (90%) HP:0002136
2 clumsiness hallmark (90%) HP:0002312
3 abnormality of the tongue hallmark (90%) HP:0000157
4 microcephaly hallmark (90%) HP:0000252
5 mandibular prognathia hallmark (90%) HP:0000303
6 behavioral abnormality hallmark (90%) HP:0000708
7 seizures hallmark (90%) HP:0001250
8 muscular hypotonia hallmark (90%) HP:0001252
9 cerebral cortical atrophy hallmark (90%) HP:0002120
10 neurological speech impairment hallmark (90%) HP:0002167
11 incoordination hallmark (90%) HP:0002311
12 eeg abnormality hallmark (90%) HP:0002353
13 abnormality of calvarial morphology hallmark (90%) HP:0002648
14 cognitive impairment hallmark (90%) HP:0100543
15 sporadic common (75%) HP:0003745
16 wide mouth typical (50%) HP:0000154
17 abnormality of the teeth typical (50%) HP:0000164
18 malar flattening typical (50%) HP:0000272
19 hyperreflexia typical (50%) HP:0001347
20 strabismus occasional (7.5%) HP:0000486
21 hernia of the abdominal wall occasional (7.5%) HP:0004299
22 microcephaly HP:0000252
23 intellectual disability HP:0001249
24 seizures HP:0001250
25 truncal ataxia HP:0002078
26 eeg abnormality HP:0002353
27 autosomal dominant inheritance HP:0000006
28 wide mouth HP:0000154
29 macroglossia HP:0000158
30 brachycephaly HP:0000248
31 mandibular prognathia HP:0000303
32 hypoplasia of the maxilla HP:0000327
33 strabismus HP:0000486
34 deeply set eye HP:0000490
35 myopia HP:0000545
36 exotropia HP:0000577
37 blue irides HP:0000635
38 nystagmus HP:0000639
39 widely spaced teeth HP:0000687
40 paroxysmal bursts of laughter HP:0000749
41 hyperactivity HP:0000752
42 hypopigmentation of the skin HP:0001010
43 muscular hypotonia HP:0001252
44 global developmental delay HP:0001263
45 motor delay HP:0001270
46 absent speech HP:0001344
47 hyperreflexia HP:0001347
48 obesity HP:0001513
49 constipation HP:0002019
50 cerebral cortical atrophy HP:0002120
51 fair hair HP:0002286
52 drooling HP:0002307
53 scoliosis HP:0002650
54 flat occiput HP:0005469
55 postnatal microcephaly HP:0005484
56 intellectual disability, progressive HP:0006887
57 sleep-wake cycle disturbance HP:0006979
58 progressive gait ataxia HP:0007240
59 feeding difficulties in infancy HP:0008872
60 protruding tongue HP:0010808
61 intellectual disability, severe HP:0010864
62 limb tremor HP:0200085

Drugs & Therapeutics for Angelman Syndrome

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Drug clinical trials:

Search ClinicalTrials for Angelman Syndrome

Search NIH Clinical Center for Angelman Syndrome

Genetic Tests for Angelman Syndrome

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Genetic tests related to Angelman Syndrome:

id Genetic test Affiliating Genes
1 Angelman Syndrome20 22 UBE3A
2 Angelman Syndrome-Like22

Anatomical Context for Angelman Syndrome

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MalaCards organs/tissues related to Angelman Syndrome:

31
Tongue, Eye, Testes, Brain, Skin, Cortex, Cerebellum, Bone, Thyroid, Fetal brain, Spinal cord

Animal Models for Angelman Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Angelman Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9MECP2, MAGEL2, UBE3A, GABRB3, MBD4, CDKL5
2MP:00053869.8SNRPN, OCA2, MECP2, MAGEL2, UBE3A, CDKL5
3MP:00053899.7GABRB3, OCA2, MECP2, SNRPN, MAGEL2, UBE3A

Publications for Angelman Syndrome

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Articles related to Angelman Syndrome:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome. (25633294)
2015
2
Correction for Lewis et al., Angelman syndrome imprinting center encodes a transcriptional promoter. (25588880)
2015
3
Toward a broader view of ube3a in a mouse model of angelman syndrome: expression in brain, spinal cord, sciatic nerve and glial cells. (25894543)
2015
4
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. (24672001)
2014
5
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. (23283345)
2013
6
Impairment of TrkB-PSD-95 signaling in Angelman syndrome. (23424281)
2013
7
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors. (22381732)
2012
8
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. (21831244)
2012
9
Understanding the pathogenesis of Angelman syndrome through animal models. (22830052)
2012
10
Sudden death and Angelman syndrome. (21854386)
2012
11
Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. (22174738)
2011
12
Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. (20692323)
2010
13
Clinical and genetic aspects of Angelman syndrome. (20445456)
2010
14
Parents' priorities for AAC and related instruction for their children with Angelman Syndrome. (20196702)
2010
15
Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome. (19605773)
2010
16
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. (18996915)
2009
17
Benefit of corticosteroid therapy in Angelman syndrome. (19666884)
2009
18
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. (18384537)
2008
19
Angelman syndrome: clinical findings and follow-up data of 14 patients. (18664077)
2008
20
Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events. (17394213)
2007
21
Molecular epigenetics of Angelman syndrome. (17347796)
2007
22
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (15014980)
2004
23
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
24
Sleep problems in individuals with Angelman syndrome. (15176919)
2004
25
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. (11543639)
2001
26
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
27
Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. (10598802)
1999
28
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). (10332034)
1999
29
Distinctive pattern of behavioral functioning in Angelman syndrome. (10450464)
1999
30
Genetics of Angelman syndrome. (10364509)
1999
31
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
32
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. (10647895)
1999
33
Mutation analysis of UBE3A in Angelman syndrome patients. (9585605)
1998
34
Genetic counseling in Angelman syndrome: the challenges of multiple causes. (9557895)
1998
35
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. (9110176)
1997
36
Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. (9460799)
1997
37
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. (9288101)
1997
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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Clinvar genetic disease variations for Angelman Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1UBE3AUBE3A, 15-BP DEL/7-BP INS, NT3240indelPathogenic
2UBE3AUBE3A, 5-BP DUPduplicationPathogenic
3UBE3AUBE3A, IVS9, A-G, -8single nucleotide variantPathogenic
4UBE3AUBE3A, 2-BP DEL, 1344GTdeletionPathogenic
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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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
110.3SNURF, SNRPN
210.2CDKL5, GABRB3, CYFIP1

Compounds for genes affiliated with Angelman Syndrome

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Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1hpaii4310.3MECP2, SNRPN
2gaba4310.2MECP2, UBE3A, GABRB3
35-methylcytosine43 2411.2MECP2, MBD4
45-aza-2deoxycytidine439.9MECP2, SNRPN, MBD4

GO Terms for genes affiliated with Angelman Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:004836510.3CDKL5, CYFIP1
2magnesium ion transmembrane transporter activityGO:00150959.8NIPAL1, NIPA2, NIPAL4, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet