Hennekam syndrome
Hennekam syndrome | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 235510 |
DiseasesDB | 32192 |
Patient UK | Hennekam syndrome |
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
- ↑ 1.0 1.1 Tadmouri GO. Hennekam lymphangiectasia–lymphedema syndrome. In: Catalogue for Transmission Genetics in Arabs [PDF]. Centre for Arab Genomic Studies; 2005.
- ↑ 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.
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- ↑ https://www.amc.nl/web/research/who-is-who-in-research/who-is-who-in-research.htm?p=178
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