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Hennekam syndrome

Summary
Synonym
  • Hennekam lymphangiectasia-lymphedema syndrome
  • lymphedem-lymphangiectasia-intellectual disability syndrome
Definition
A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
Super Class
lymphatic system disease
Disease Ontology
DOID:0060366
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
9508 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3
79633 FAT4 FAT atypical cadherin 4
147372 CCBE1 collagen and calcium binding EGF domains 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
320924 Ccbe1 collagen and calcium binding EGF domains 1
329628 Fat4 FAT atypical cadherin 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
33627 ft fat
Displaying 1 entry
Gene ID Gene Symbol Description Source
555629 ccbe1 collagen and calcium binding EGF domains 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025