W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
13,947 pages, 4,144,360 edits & 41,585,119 views.

Free unbiased diet, health and wellness info!

Aagenaes syndrome

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

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.


Latest research - Aagenaes syndrome

PubMed
Clinical trials


 

Aagenaes syndrome is part of WikiMD's free ^articles!

^Aagenaes syndrome (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available