Aagenaes syndrome

Cholestasis - lymphedema
Orpha number ORPHA1414
Prevalence of rare diseases <1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
K83.1 Q82.0
MIM number
214900
Synonym(s) Aagenaes syndrome
SUMMARY
Cholestasis-lymphedema syndrome (CLS) is characterized by chronic severe lymphoedema and severe neonatal cholestasis that usually lessens during early childhood and becomes episodic. It has been described in six large families, mainly from Norway. The common feature of this autosomal recessive condition is a generalised lymphatic anomaly. This appears to indicate that the defect resides in lymphangiogenesis, but the genetic cause remains unknown. A genome screen has been performed using DNA from Norwegian patients. Affected individuals manifested extensive allele and haplotype sharing over the 6.6-cM D15S979-D15S652 region. All Norwegian patients with CLS are likely to be homozygous for the same disease mutation, inherited from a shared ancestor. The prognosis is variable: some patients died in early childhood (mainly of bleeding because of vitamin K deficiency), whereas others died of cirrhosis in later childhood and one woman died at the age of 50 years. In contrast, nine of the reported patients are still alive at ages ranging from 30 to 61 years.