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Aagenaes syndrome

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Other names

Cholestasis lymphedema syndrome; CHLS; LCS

Autosomal dominant and recessive
Autosomal dominant and recessive

Clinical features

Cause

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

Inheritance

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

Geographic distribution

  • 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

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

Symptoms

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

Diagnosis

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

Treatment

There is no cure and treatment is supportive care.

See also

NIH genetic and rare disease info

Aagenaes syndrome is a rare disease.


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Latest research (Pubmed)

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