Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT CUTIS LAXA	90348 MONDO:0019571	ALDH18A1	Unknown	26320891	GWAS catalog, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ELN	Unknown	16085695 18348261	Disgenet, Orphanet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		FBLN5	Unknown	12618961 20301756	CTD, Orphanet	Elastic fibre formation Molecules associated with elastic fibres
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1	90349 MONDO:0019572	EFEMP2	Unknown	16685658 19664000	GWAS catalog, Orphanet	Molecules associated with elastic fibres
		FBLN5	Unknown	22829427	CTD, Orphanet	Elastic fibre formation Molecules associated with elastic fibres
		LTBP1	Unknown	33991472	Orphanet	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	357074 MONDO:0009054	ATP6V0A2	Unknown	18157129 19321599 20301755	GenCC, Orphanet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		ATP6V1A	Unknown	28065471	GWAS catalog, Orphanet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		ATP6V1E1	Unknown	28065471	GWAS catalog, Orphanet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A	MONDO:0018163	ATP6V0A2	Unknown	18157129 19321599 24815019 26611489 28122681 30474613 38396846	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
CUTIS LAXA	C0010495 MESH:D003483	ALDH18A1	Unknown	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ATP6V1A	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		ATP7A	Unknown	—	Disgenet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more
		COL5A1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		ELN	Unknown	12189163	CTD, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		FAM120AOS	Unknown	—	Disgenet	—
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		LTBP1	Unknown	—	Disgenet	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		SLC39A13	Unknown	—	Disgenet	Alzheimer disease Parkinson disease
		SRFBP1	Unknown	—	Disgenet	—
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	C2750804 MESH:C567716	LTBP4	Unknown	—	CTD, Disgenet	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL DOMINANT	C0268350 MESH:C562627	ALDH18A1	Unknown	—	CTD, Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, AUTOSOMAL DOMINANT	C0268350 MESH:C562627	ELN	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	C0268351	EFEMP2	Unknown	—	Disgenet	Molecules associated with elastic fibres
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		LTBP1	Unknown	—	Disgenet	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA	219100 C5848058 OMIM:219100	FBLN5	Unknown	—	CTD, Disgenet, HPO	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	614437 C3280798 OMIM:614437	EFEMP2	Unknown	—	CTD, Disgenet, HPO	Molecules associated with elastic fibres
		GBE1	Unknown	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
		MUS81	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC	613177	LTBP4	Unknown	—	HPO	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID	620780 C5935602	EFEMP1	Unknown	33807164 31792352 32006683	Disgenet, HPO	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA	219200 C0268355 MESH:C562632	ATP6V0A2	Unknown	—	CTD, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	612940 C2751987 MESH:C567855	PYCR1	Unknown	—	CTD, Disgenet, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402 C4479387 OMIM:617402	ATP6V1E1	Unknown	28065471	CTD, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403 C4479409 OMIM:617403	ATP6V1A	Unknown	28065471 33320377	CTD, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE	619451 C5561944	LTBP1	Unknown	—	Disgenet, HPO	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA	219150 C5234852 OMIM:219150	ALDH18A1	Unknown	—	CTD, Disgenet, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	614438 OMIM:614438	PYCR1	Unknown	—	CTD, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, RECESSIVE	C2931134 MESH:C536225	ALDH18A1	Unknown	26320891 26829900 28228640	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ATP6V0A2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		EFEMP2	Unknown	16685658 17937443 19664000 22440127 23212998 24276535 28673110 29362193 30140196	Disgenet	Molecules associated with elastic fibres
		FBLN5	Unknown	12189163	CTD	Elastic fibre formation Molecules associated with elastic fibres
		MUS81	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates +1 more
		PYCR1	Unknown	11424136 16045708 18304158 18348262 19576563 19648921	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more

Cutis laxa

Bookmark This Disease