溶酶体贮积病伴骨骼受累

Lysosomal storage disease with skeletal involvement

ORPHA:93448疾病组

别名

多发性成骨不全

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
AGA	aspartylglucosaminidase	ORPHA:93
ARSB	arylsulfatase B	ORPHA:276212
CTSA	cathepsin A	ORPHA:351
FUCA1	alpha-L-fucosidase 1	ORPHA:349
GALNS	galactosamine (N-acetyl)-6-sulfatase	ORPHA:309297
GLB1	galactosidase beta 1	ORPHA:79255
GNPTAB	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	ORPHA:576
GNPTG	N-acetylglucosamine-1-phosphate transferase subunit gamma	ORPHA:423470
GNS	glucosamine (N-acetyl)-6-sulfatase	ORPHA:79272
GUSB	glucuronidase beta	ORPHA:584
HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	ORPHA:79271
IDS	iduronate 2-sulfatase	ORPHA:217085
IDUA	alpha-L-iduronidase	ORPHA:93473
MAN2B1	mannosidase alpha class 2B member 1	ORPHA:309282
MANBA	mannosidase beta	ORPHA:118
NAGLU	N-acetyl-alpha-glucosaminidase	ORPHA:79270
NEU1	neuraminidase 1	ORPHA:93399
SGSH	N-sulfoglucosamine sulfohydrolase	ORPHA:79269
SLC17A5	solute carrier family 17 member 5	ORPHA:309324
SUMF1	sulfatase modifying factor 1	ORPHA:585
VPS33A	VPS33A core subunit of CORVET and HOPS complexes	ORPHA:505248

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