Hennekam syndrome

Hennekam syndrome
Classification and external resources
OMIM 235510
DiseasesDB 32192

Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal lymphagiectasia–lymphedema–mental retardation syndrome[1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.[1][2]

It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".[3]

In a subset of patients it is associated with CCBE1 according research published by its namesake, Raoul Hennekam.[4][5] Other causal mutations were found in the FAT4 gene.[6] Previously, mutations in the FAT4 gene had been only associated with van Maldergem syndrome. The molecular etiology 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.[7]

See also

References

  1. 1 2 Tadmouri GO. Hennekam lymphangiectasia–lymphedema syndrome. In: Catalogue for Transmission Genetics in Arabs [PDF]. Centre for Arab Genomic Studies; 2005.
  2. ↑ Erkan T, Kutlu T, Çullu F et al. [Hennekam syndrome]. Arch Pediatr. 1998;5(12):1344–6. French. doi:10.1016/S0929-693X(99)80054-2. PMID 9885742.
  3. ↑ Van Balkom ID, Alders M, Allanson J, et al. (November 2002). "Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review". Am. J. Med. Genet. 112 (4): 412–21. doi:10.1002/ajmg.10707. PMID 12376947.
  4. ↑ https://www.amc.nl/web/research/who-is-who-in-research/who-is-who-in-research.htm?p=178
  5. ↑ Alders M, Hogan BM, Gjini E, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet. 41 (12): 1272–4. doi:10.1038/ng.484. PMID 19935664.
  6. ↑ Alders M, Al-Gazali L, Cordeiro I, et al. (June 2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome". Hum. Genet. 133 (9): 1161–7. doi:10.1007/s00439-014-1456-y. PMID 24913602.
  7. ↑ Jeltsch M, Jha SK, Tvorogov D, et al. (February 2014). "CCBE1 enhances lymphangiogenesis via A disintegrin a". Circulation. 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.


This article is issued from Wikipedia - version of the 7/12/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.