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Condition

Angelman Syndrome

Congenital Malformations and Chromosomal Abnormalities

Angelman syndrome is a genetic disorder caused by loss of function of the maternally inherited UBE3A gene on chromosome 15, arising from a deletion, an inheritance of two paternal copies of the chromosome, or a direct mutation. It produces severe intellectual disability, little or no spoken language, an unsteady, jerky gait, and a notably happy demeanor with frequent laughter and smiling. British pediatrician Harry Angelman first described the condition in 1965 after observing several children with the same distinctive pattern of features.

Facts
Classification
Body System
Nervous System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
1965 4
Sources
1. Wikipedia: Angelman syndrome
Wikipedia
  • lead paragraph
    Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 individuals.
  • Lead section, body-system statement
    AS impairs the function of the nervous system, producing symptoms such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems.
  • Lead section, transmission-route statement
    Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 individuals.
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2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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4. Wikidata: Angelman Syndrome
  • Wikidata Q535364, class allow-list match (w-wdresolver-0926)
  • Wikidata P575 (w-bbfill-medicine3-0926)
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