Aagenaes syndrome

Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1, 2] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene ...1

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Symptoms of Aagenaes syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Names and Terminology

Other Names: Cholestasis lymphedema syndrome; CHLS; LCS; Cholestasis lymphedema syndrome; CHLS; LCS; LCS1; Lymphedema cholestasis syndrome ...Source: GARD (NIH)2 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 370/ aagenaes-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 370/ aagenaes-syndrome

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