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| Disease found: | Aagenaes syndrome |
| Current as of: | October 8, 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. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |