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
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B	357064 MONDO:0013051	PYCR1	Causal	19576563 19648921 18304158 18348262 16045708 11424136	ClinGen, ClinVar, GWAS catalog, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2C	MONDO:0027462	ATP6V1E1	Causal	27023906 28065471	ClinGen, ClinVar, GWAS catalog	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2D	MONDO:0027451	ATP6V1A	Causal	—	ClinGen, ClinVar, GenCC	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
CUTIS LAXA	C0010495 MONDO:0016175 MESH:D003483	ABCC6	Causal	—	Disgenet	ABC transporters ABC-family proteins mediated transport Defective ABCC6 causes pseudoxanthoma elasticum (PXE)
		ATP6V0A2	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		ATP6V1E1	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		EFEMP1	Causal	—	Disgenet, GenCC	Molecules associated with elastic fibres
		EFEMP2	Causal	—	Disgenet	Molecules associated with elastic fibres
		LOX	Causal	—	Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		LTBP4	Causal	—	Disgenet	Molecules associated with elastic fibres
		PYCR1	Causal	19648921	CTD, Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		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 OSTEODYSTROPHY		ATP6V0A2	Causal	—	ClinVar	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES	221145 MONDO:0013170	LTBP4	Causal	19836010 22829427	ClinVar, GenCC, Orphanet	Molecules associated with elastic fibres
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	FBLN5	Causal	—	CTD, Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		ALDH18A1	Unknown	—	CTD, Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ELN	Unknown	—	CTD, Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
CUTIS LAXA, AUTOSOMAL DOMINANT 1	123700 C3276539 MONDO:0007411	ELN	Causal	10190538 9215670 10190324 8132745 9215671 11175284 19844261 8541862 11735026 23442826 21309044	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
CUTIS LAXA, AUTOSOMAL DOMINANT 2	614434 C3280794 MONDO:0013751	FBLN5	Causal	12618961 9873040 9580666	ClinVar, Disgenet, GWAS catalog, HPO	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL DOMINANT 3	616603 C4225268 MONDO:0014706	ALDH18A1	Causal	26320891 28228640 26829900	ClinVar, Disgenet, GWAS catalog, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1A	MONDO:0009052	FBLN5	Causal	12189163 22829427	ClinVar, GWAS catalog	Elastic fibre formation Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B	MONDO:0013754	EFEMP2	Causal	30140196 22440127 29362193 23212998 24276535 28673110 19664000 17937443 16685658	ClinGen, ClinVar, Disgenet	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D	MONDO:0958335	EFEMP1	Causal	—	ClinVar, GenCC	Molecules associated with elastic fibres
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 2E	MONDO:0030337	LTBP1	Causal	33991472	ClinVar, GWAS catalog	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 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, X-LINKED	C0268353	ATP7A	Causal	—	ClinVar, Disgenet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more

Cutis laxa

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