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	235510 C4012050 MONDO:0009337	CCBE1	Causal	19935664	ClinVar, Disgenet, HPO	—
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	235510 C4012050 MONDO:0009337	FAT4	Unknown	—	Disgenet	Hippo signaling pathway - multiple species
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2	616006 C4014939 MONDO:0014454	FAT4	Causal	24913602	ClinVar, Disgenet, HPO	Hippo signaling pathway - multiple species
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3	618154 C4748408 MONDO:0032564	ADAMTS3	Causal	26446156 28985353 30450763	ClinVar, Disgenet, HPO	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
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