Hennekam syndrome
| Hennekam syndrome | |
|---|---|
| Other names | ennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome[1] |
 | |
| Hennekam syndrome is inherited in an autosomal recessive manner | |
Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome,
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".[3]
Hennekam Syndrome is subdivided according to the causative genetic lesion, most (or all) of which are affecting the VEGF-C/VEGFR-3 signaling pathway:
The first recognition of a genetic association was with
VEGF-C.[8] 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
- ^ a b c Tadmouri GO (2005). "Hennekam lymphangiectasia–lymphedema syndrome". Catalogue for Transmission Genetics in Arabs (PDF). Centre for Arab Genomic Studies.
- PMID 9885742.)
{{cite journal}}: CS1 maint: multiple names: authors list (link - PMID 12376947.
- S2CID 205356254.
- S2CID 14414158.
- PMID 28985353.
- PMID 2624276.
- PMID 24552833.