Hennekam syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HENNEKAM LYMPHANGIECTASIA LYMPHEDEMA SYNDROME	MESH:C537255	CCBE1	Unknown	19911200 19935664	CTD	—
HENNEKAM LYMPHANGIECTASIA LYMPHEDEMA SYNDROME	MESH:C537255	FAT4	Unknown	—	CTD	Hippo signaling pathway - multiple species
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	C0340834	ADAMTS3	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		CCBE1	Unknown	—	Disgenet	—
		FAT4	Unknown	—	Disgenet	Hippo signaling pathway - multiple species
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	C4012050	FAT4	Unknown	—	Disgenet	Hippo signaling pathway - multiple species
HENNEKAM SYNDROME	2136 MONDO:0016256	ADAMTS3	Unknown	28985353	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		CCBE1	Unknown	19935664	Disgenet, Orphanet	—
		FAT4	Unknown	24913602	CTD, Orphanet	Hippo signaling pathway - multiple species