Aagenaes syndrome
Findings
No curated finding names Aagenaes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Definition from the Mondo Disease Ontology (MONDO:0008966), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Abnormality of the lymphatic systemHPOHP:0100763
- Very frequent (80% to 99% of cases)
- Abnormality of urine homeostasisHPOHP:0003110
- Very frequent (80% to 99% of cases)
- Acholic stoolsHPOHP:0011985
- Very frequent (80% to 99% of cases)
- Biliary tract abnormalityHPOHP:0001080
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Abnormal skin pigmentationHPOHP:0001000
- Frequent (30% to 79% of cases)
- Multiple lipomasHPOHP:0001012
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Bone painHPOHP:0002653
- Occasional (5% to 29% of cases)
- CirrhosisHPO · MondoHP:0001394
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)