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Hennekam syndrome

FieldValue
nameHennekam syndrome
synonymsHennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome
imageAutosomal recessive - en.svg
captionHennekam syndrome is inherited in an autosomal recessive manner

Hennekam syndrome, also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.

It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".

Hennekam syndrome is subdivided according to the causative genetic lesion, most (or all) of which are affecting the VEGF-C/VEGFR-3 signaling pathway:

  • Type 1 (mutations in CCBE1)
  • Type 2 (mutations in FAT4)
  • Type 3 (mutations in ADAMTS3)

The first recognition of a genetic association was with CCBE1, published by its namesake, Raoul Hennekam. The molecular mechanism of the lymphedema phenotype in CCBE1-associated cases was identified as a diminished ability of the mutated CCBE1 to accelerate and focus the activation of the primary lymphangiogenic growth factor VEGF-C. Mutations in the FAT4 gene had previously been only associated with van Maldergem syndrome, but the pathogenetic molecular mechanism and the function of FAT4 within lymphangiogenesis are still unknown.

References

References

  1. Tadmouri GO. (2005). "Catalogue for Transmission Genetics in Arabs". Centre for Arab Genomic Studies.
  2. Erkan T, Kutlu T, Çullu F. (1998). "Syndrome de hennekamHennekam syndrome". Arch Pediatr.
  3. (November 2002). "Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review". Am. J. Med. Genet..
  4. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet..
  5. (June 2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome". Hum. Genet..
  6. (2017). "Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3". Hum. Mol. Genet..
  7. (February 2014). "CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C Activation". Circulation.
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