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Disease found: | Aagenaes syndrome |
Current as of: | Mon Sep 16 2024 |
Disease Overview: | Autosomal reccesive disorder of idiopathic familial intrahepatic cholestasis attributed to mutations in the LSC1 gene on chromosome 15q. [more info] |
Signs and Symptoms: | Abdominal pain, impaired lympathics, acholic stools, fatigue, hepatomegaly, jaundice, nausea, vomiting, abnormality of skin pigmentation, lipomas [more info] |
Diagnosis: | Made by symptoms and exclusion of other diseases. Often ordered: Abdominal ultrasonography and Magnetic resonance cholangiopancreatography (MRCP) [more info] |
Treatment: | Supportive Therapy Only [more info] |
Clinical Management: | Patient Support Groups [more info] |
Referral: | No specific physicians specialize in this condition - often managed by Gastroenterology. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
Clinical Trials: | None are available, but can sign up to be notified when one becomes available |