Aagenaes syndrome

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Other names[edit | edit source]

Cholestasis lymphedema syndrome; CHLS; LCS

Autosomal dominant and recessive
Autosomal dominant and recessive

Clinical features[edit | edit source]

Cause[edit | edit source]

At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.

Inheritance[edit | edit source]

This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.

Geographic distribution[edit | edit source]

  • The condition is particularly frequent in southern Norway
  • More than half the cases are reported from southern Norway
  • It is also found in patients in other parts of Europe and the United States.

Name[edit | edit source]

It is named after Øystein Aagenæs, a Norwegian paediatrician.It is also called cholestasis-lymphedema syndrome (CLS)

Symptoms[edit | edit source]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin.

List of symptoms[edit | edit source]

Diagnosis[edit | edit source]

It is diagnosed through genetic testing to demonstrate mutations in LSC1 gene on chromosome 15q.

Treatment[edit | edit source]

There is no cure and treatment is supportive care.

See also[edit | edit source]

NIH genetic and rare disease info[edit source]

Aagenaes syndrome is a rare disease.


Aagenaes syndrome Resources

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Contributors: Prab R. Tumpati, MD