Weill-marchesani 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
WEILL-MARCHESANI 4 SYNDROME, RECESSIVE	MONDO:0013176	ADAMTS17	Causal	19836009 20301293 22486325 24940034 31019231 31201465	ClinVar, Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
WEILL-MARCHESANI SYNDROME	3449 C0265313 MESH:D056846 MONDO:0018096	FBN1	Causal	20301293	CTD, Disgenet, GenCC, Orphanet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		ADAMTS10	Unknown	20301293	CTD, Disgenet, GWAS catalog, Orphanet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTS17	Unknown	19836009	Disgenet, Orphanet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		LTBP2	Unknown	20301293 22539340	CTD, Disgenet, Orphanet	Molecules associated with elastic fibres
WEILL-MARCHESANI SYNDROME 1	277600 C4552002 MONDO:0010194	ADAMTS10	Causal	15368195 25469541	CTD, ClinVar, Disgenet, HPO	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
WEILL-MARCHESANI SYNDROME 1	277600 C4552002 MONDO:0010194	LTBP2	Causal	—	Disgenet	Molecules associated with elastic fibres
WEILL-MARCHESANI SYNDROME 2	608328	FBN1	Unknown	—	HPO	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
WEILL-MARCHESANI SYNDROME 2, DOMINANT	MONDO:0012013	FBN1	Causal	8406497 12525539 23897642 37734846 34075901 28696036 25142510 22242013	ClinVar, GWAS catalog	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
WEILL-MARCHESANI SYNDROME 3	614819 C3553785 MONDO:0013899	LTBP2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Molecules associated with elastic fibres
WEILL-MARCHESANI SYNDROME 4	613195	ADAMTS17	Unknown	—	HPO	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT	C1869115	ADAMTS10	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTS17	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		LTBP2	Unknown	—	Disgenet	Molecules associated with elastic fibres
WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	C1869114	ADAMTS10	Unknown	15368195 25469541	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTS17	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		FBN1	Unknown	12525539 22242013 23897642 25142510 28696036 34075901 37734846 8406497	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		LTBP2	Unknown	—	Disgenet	Molecules associated with elastic fibres
WEILL-MARCHESANI-LIKE SYNDROME	C2750787 MESH:C567710	ADAMTS17	Unknown	—	CTD, Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins