Angelman syndrome

Preferred Label : Angelman syndrome;

Symbol : AS;

CISMeF acronym : ANCR; AS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Happy puppet syndrome;

Included titles and symbols : Angelman syndrome chromosome region; ANCR;

Description : Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.;

Inheritance : Autosomal dominant (loss of maternal allele);

Molecular basis : Caused by mutation in the ubiquitin protein ligase E3A gene (UBE3A, 601623.0001);

Prefixed ID : #105830;

Details

Origin ID

105830;

UMLS CUI

C0162635;

Automatic exact mappings (from CISMeF team)
- 2q23.1 microdeletion syndrome [ORDO Disease]
- A Ag [LOINC component]
- AS gene [LOINC component]
- Abdominal lymph node tumor invasion status A (tumor staging) [SNOMED CT concept]
- Acre [NCIt concept]
- American Samoa [NCIt concept]
- Ampere [NCIt concept]
- Angelman syndrome chromosome region [HGNC gene]
- Angstrom [NCIt concept]
- Arsenic [NCIt concept]
- As - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- Associate of Science [NCIt concept]
- Atto [NCIt concept]
- Equus asinus asinus (organism) [Inactive SNOMED CT concept]
- Lower case Roman letter a (qualifier value) [SNOMED CT concept]
- Lymphoma staging symptom status A (tumor staging) [SNOMED CT concept]
- Nursing Assistants [MeSH Descriptor]
- Other deletions of part of a chromosome [ICD-10 Sub-category]
- Tumor staging descriptor a (tumor staging) [SNOMED CT concept]
- UBE3A wt Allele [NCIt concept]
- Upper case Roman letter A (qualifier value) [SNOMED CT concept]
- asparagine synthase (glutamine-hydrolyzing) activity [GO term]
- ass [SNOMED Notion]
- donkeys [MeSH concept]
- long intergenic non-protein coding RNA 2605 [HGNC gene]
- muscular atrophy, spinal [MeSH Descriptor]
- symbol withdrawn AS [HGNC gene]
- ubiquitin protein ligase E3A [ORDO Gene]
- ubiquitin protein ligase E3A [HGNC gene]
Currated CISMeF NLP mapping
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [DO Concept]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome [ICD-11 Subcategory]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [MeSH concept]
- angelman syndrome [SNOMED Notion]
DO Cross reference
- Angelman syndrome [DO Concept]
False automatic mappings
- Year [NCIt concept]
Genes related to phenotype
- Ubiquitin-protein ligase e3a [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blond hair [HPO term]
- Blue irides [HPO term]
- Brachycephaly [HPO term]
- Broad-based gait [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clumsiness [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Drooling [HPO term]
- EEG abnormality [HPO term]
- Exotropia [HPO term]
- Fair hair [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat occiput [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Isolated cases [HPO term]
- Limb tremor [HPO term]
- Macroglossia [HPO term]
- Mandibular prognathia [HPO term]
- Microbrachycephaly [HPO term]
- Mild cortical atrophy on ct or mri [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Paroxysmal bursts of laughter [HPO term]
- Progressive gait ataxia [HPO term]
- Protruding tongue [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Sleep-wake cycle disturbance [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Angelman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [DO Concept]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome [Disease (Nov.)]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- Happy puppet syndrome [MedDRA LLT]
- angelman syndrome [SNOMED Notion]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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