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  2. Angelman's syndrome genetics
    Angelman syndrome is caused by a problem with the UBE3A gene located at the 15th chromosome. It’s important to keep in mind that in typical humans, the UBE3A gene from our father is silent and the brain uses the UBE3A gene from our mother during development. There are 4 ways that Angelman syndrome can occur. These are called genotypes.
    www.angelman.org/what-is-as/genetics-of-angelma…
    Angelman's syndrome genetics
    Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene. A missing or defective gene You receive your pairs of genes from your parents — one copy from your mother (maternal copy) and the other from your father (paternal copy).
    www.mayoclinic.org/diseases-conditions/angelma…
    Angelman's syndrome genetics
    Angelman syndrome is due to a lack of function of part of chromosome 15, typically due to a new mutation rather than one inherited. Most often it is due to a deletion or mutation of the UBE3A gene on that chromosome.
    en.wikipedia.org/wiki/Angelman_syndrome
    Angelman's syndrome genetics
    The disorder results from the loss of function of a gene called UBE3A, which provides instructions for making a protein (ubiquitin protein ligase E3A) that plays an important role in the development and function of the nervous system.
    www.ninds.nih.gov/health-information/disorders/an…
    Angelman's syndrome genetics
    Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.
    www.angelman.org/what-is-as/
     
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  4. Angelman syndrome: MedlinePlus Genetics

     
  5. Angelman Syndrome - GeneReviews® - NCBI Bookshelf

    WEBSep 15, 1998 · Individuals with Angelman syndrome (AS) typically represent simplex cases (i.e., a single affected family member) and have the …

    • Published: 2021/04/22
    • Studies of angelman's syndrome genetics
    • Angelman syndrome - Symptoms and causes - Mayo Clinic

    • Angelman Syndrome - StatPearls - NCBI Bookshelf

      WEBAug 8, 2023 · Angelman syndrome (AS) is caused by a pathologic lack of expression of the UBE3A gene on the maternal chromosome in combination with physiologic genomic imprinting or silencing on the …

    • Also known as: happy puppet syndrome
      Content medically reviewed by
      Dr. Rakshith Bharadwajverified specialist
      MD, Internal Medicine
      View full profile onLinkedIn logoLinkedIn
      Complications

      If untreated for a prolonged period it may lead to

      • Feeding difficulties
      • Abnormal sleep-wake patterns
      • Scoliosis
      • Obesity due to large appetite

      Symptoms & Reports
      Contact your provider if experiencing new, severe, or persistent symptoms.

      The symptoms include:

      • Impaired speech
      • Ataxia
      • Scoliosis- curvature of the spinal cord
      • Happy and excitable
      • Seizures and convulsions beginning at age 2
      • Have reduced sleeping time compared to other children
      • Short attention span
      • Frequently sticking out the tongue
      • Hair, skin, eyes are pale


      Common symptoms and their severity as reported by people on Patientslikeme.

      Symptoms
      Severity Graph
      (11)
      (10)
      (10)
      (10)
      Last Update : 2024-05-13.
      Seve...
      Mode...
      Mild
      None
      Causes

      • The condition is caused by loss of function of UBE3A gene
      • This can result from mutation or deletion of the gene.
      • It may also occur as a result of inactivation of the gene due to other chromosomal changes.
      • In rare cases, a child may inherit two copies of inactive forms of the gene instead of one active and one inactive (uniparental disomy).

      Prevention

      This condition cannot be prevented. But if there is a family history, it is recommended to get genetic counseling before pregnancy.

      Source: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
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