Aagenaes syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Autosomal reccesive disorder of idiopathic familial intrahepatic cholestasis attributed to mutations in the LSC1 gene on chromosome 15q.

Common symptoms

Abdominal painimpaired lympathicsacholic stoolsfatiguehepatomegalyjaundicenauseavomitingabnormality of skin pigmentationlipomas

When to suspect

  • Recommendation 1

    Made by symptoms and exclusion of other diseases. Often ordered

  • Recommendation 2

    Abdominal ultrasonography and Magnetic resonance cholangiopancreatography (MRCP)

How to test

  • Recommendation 1

    Made by symptoms and exclusion of other diseases. Often ordered

  • Recommendation 2

    Abdominal ultrasonography and Magnetic resonance cholangiopancreatography (MRCP)

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Supportive Therapy Only

Primary care

  • Recommendation 1

    Patient Support Groups

Further support

  • Recommendation 1

    No specific physicians specialize in this condition

  • Recommendation 2

    often managed by Gastroenterology. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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