Browse result page of RareLSD

The total number entries retrieved from this search are 26

Disease_ID	Disorder	Category	ENZYME LEVEL IN PATIENT (nm/h/mg protein)	Mannose-6-Phosphate	Gene	Location
D_1010	Aspartylglycosaminuria (AGU)	Mucolipidosis	nr	yes	AGA	cat enz
D_1011	Niemann-Pick disease(type A)	Mucolipidosis	0.1-0.35	yes	SMPD1	cat enz
D_1012	Niemann-Pick disease(type B)	Mucolipidosis	0.25-0.46	yes	SMPD1	cat enz
D_1013	Niemann-Pick disease(type C1 / chronic neuronopathic formD)	Mucolipidosis	nr	no	NPC1	TMP
D_1014	Niemann-Pick disease(type C2)	Mucolipidosis	nr	yes	NPC2	tp
D_1015	Niemann-Pick disease(type D / Nova Scotian type)	Mucolipidosis	nr	no	NPC1	TMP
D_1016	Fucosidosis	Mucolipidosis	nr	yes	FUCA1	cat enz
D_1017	Geleo Physic Dysplasia	Mucolipidosis	nr	na	FBN1/ADAMTSL2	na
D_1018	Lysosomal Acid Lipase Deficiency	Mucolipidosis	nr	yes	LIPA	cat enz
D_1019	cholesteryl ester storage disease (later-onset)	Mucolipidosis	nr	yes	LIPA	cat enz
D_1020	Alpha Mannosidosis	Mucolipidosis	nr	yes	MAN2B1	cat enz
D_1021	Beta Mannosidosis	Mucolipidosis	nr	yes	MANBA	cat enz
D_1022	Metachromatic leukodystrophy due to saposin B deficiency	Mucolipidosis	nr	yes	PSAP	cat enz
D_1023	Metachromatic Leukodystrophy	Mucolipidosis	0.0-0.3	yes	ARSA	cat enz
D_1024	ML I – Neuramidase Deficiency(Sialidoses)	Mucolipidosis	nr	yes	NEU1	cat enz
D_1025	ML II – I-Cell Disease	Mucolipidosis	nr	na	GNPTAB	na
D_1026	ML III – Pseudo Hurler Polydystrophy	Mucolipidosis	nr	na	GNPTAB	na
D_1027	ML IV	Mucolipidosis	nr	na	MCOLN1	tp
D_1028	Sialic Acid Storage Disease	Mucolipidosis	nr	na	SLC17A5	na
D_1029	Chanarin-Dorfman syndrome(myopathy)	Mucolipidosis	nr	na	PNPLA2	na
D_1030	Chanarin-Dorfman syndrome(ichthyosis)	Mucolipidosis	nr	na	CGI58	na
D_1032	Mucolipidosis II alpha/beta	Mucolipidosis	nr	na	GNPTAB	na
D_1033	Mucolipidosis IIIC / ML III GAMMA	Mucolipidosis	nr	na	GNPTG	na
D_1034	Neuramidase 4 Deficiency	Mucolipidosis	nr	yes	NEU4	na
D_1035	Winchester	Mucolipidosis	nr	na	MMP14	na
D_1036	Wolman disease	Mucolipidosis	nr	yes	LIPA	cat enz