Metachromatic leukodystrophy | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LEUKODYSTROPHY, METACHROMATIC	C0023522 MESH:D007966	ARSA	Unknown	—	CTD, Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
		ARSB	Unknown	—	Disgenet	Glycosaminoglycan degradation Metabolic pathways Lysosome +5 more
		CLCN1	Unknown	—	Disgenet	Stimuli-sensing channels
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		MAL	Unknown	—	Disgenet	—
		PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
		YARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
LEUKODYSTROPHY, METACHROMATIC, ADULT	C0751279	ARSA	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
LEUKODYSTROPHY, METACHROMATIC, ADULT	C0751279	PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY	250100 MONDO:0018868	ARSA	Causal	—	ClinGen, ClinVar, GenCC, HPO	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	C0268262 249900 MESH:C562609 MONDO:0009590	CDH23	Unknown	—	Disgenet	—
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	C0268262 249900 MESH:C562609 MONDO:0009590	PSAP	Unknown	10682309 17616409 18480170 19267410 1977956 2019586 2302219 24478108 30632081 31319425 8554069	ClinGen, CTD, Disgenet, HPO	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY, ADULT FORM	309271	ARSA	Unknown	20301309	Orphanet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY, ADULT FORM	309271	PSAP	Unknown	24478108	Orphanet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY, CONGENITAL TYPE	C0751278	ARSA	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY, CONGENITAL TYPE	C0751278	PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM	309263 MONDO:0009591	ARSA	Unknown	20301309 7981715 11456299 1676699 1353340 1684088 2574462 11061266 8104633 9600244 1673291 8101038 7902317 7909527 7815433 1670590 7906588 12788103 1678251 7858169 7833949 8101083 11941485 7866401	GWAS catalog, Orphanet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM	309263 MONDO:0009591	PSAP	Unknown	24478108	Orphanet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY, JUVENILE TYPE	C0751276	ARSA	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY, JUVENILE TYPE	C0751276	PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM	309256	ARSA	Causal	20301309	Orphanet, ClinGen	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM	309256	PSAP	Unknown	24478108	Orphanet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more