KEGG MEDICUS Search Result

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Entry	Name	Description	Category	Gene
H00122	Multiple exostoses	Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones.	Inherited metabolic disorder	(EXT1) EXT1 [HSA:2131] [KO:K02366] (EXT2) EXT2 [HSA:2132] [KO:K02367]
H00123	Mucopolysaccharidosis type IV	Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in ...	Inherited metabolic disorder, Lysosomal disease	(MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309]
H00124	GM2 gangliosidoses	GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The enzymatic ...	Inherited metabolic disorder, Lysosomal disease	(Type I) HEXA [HSA:3073] [KO:K12373] (Type II) HEXB [HSA:3074] [KO:K12373] (AB variant) GM2A [HSA:2760] [KO:K12383]
H00125	Fabry disease Anderson-Fabry disease	Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in ...	Inherited metabolic disorder, Lysosomal disease	GLA [HSA:2717] [KO:K01189]
H00126	Gaucher disease	Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase ...	Inherited metabolic disorder, Lysosomal disease	(GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201] (GDSAPC) PSAP [HSA:5660] [KO:K12382]
H00127	Metachromatic leukodystrophy	Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation ...	Inherited metabolic disorder, Lysosomal disease	(MLD) ARSA [HSA:410] [KO:K01134] (MLDSAPB) PSAP [HSA:5660] [KO:K12382]
H00128	Mucopolysaccharidosis type I Hurler-Scheie syndrome Hurler syndrome Scheie syndrome	Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results ...	Inherited metabolic disorder, Lysosomal disease	(MPS1) IDUA [HSA:3425] [KO:K01217]
H00129	Mucopolysaccharidosis type II Hunter syndrome	Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation ...	Inherited metabolic disorder, Lysosomal disease	(MPS2) IDS [HSA:3423] [KO:K01136]
H00130	Mucopolysaccharidosis type III	Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results ...	Inherited metabolic disorder, Lysosomal disease	(MPS3A) SGSH [HSA:6448] [KO:K01565] (MPS3B) NAGLU [HSA:4669] [KO:K01205] (MPS3C) HGSNAT [HSA:138050] [KO:K10532] (MPS3D) GNS [HSA:2799] [KO:K01137]
H00131	Mucopolysaccharidosis type VI Maroteaux-Lamy syndrome	Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in ...	Inherited metabolic disorder, Lysosomal disease	(MPS6) ARSB [HSA:411] [KO:K01135]
H00132	Mucopolysaccharidosis type VII Sly syndrome	Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results ...	Inherited metabolic disorder, Lysosomal disease	(MPS7) GUSB [HSA:2990] [KO:K01195]
H00133	Mucopolysaccharidosis type IX Hyaluronidase deficiency	Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.	Inherited metabolic disorder, Lysosomal disease	(MPS9) HYAL1 [HSA:3373] [KO:K01197]
H00134	X-linked ichthyosis	X-linked ichthyosis (XLI) is caused by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as ...	Congenital malformation	STS [HSA:412] [KO:K01131]
H00135	Krabbe disease Globoid cell leukodystrophy	Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.	Inherited metabolic disorder, Lysosomal disease	(KRB) GALC [HSA:2581] [KO:K01202] (KRBSAPA) PSAP [HSA:5660] [KO:K12382]
H00136	Niemann-Pick disease type C	Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration ...	Inherited metabolic disorder, Lysosomal disease	(NPC1/ D) NPC1 [HSA:4864] [KO:K12385] (NPC2) NPC2 [HSA:10577] [KO:K13443]
H00137	Niemann-Pick disease type A/B	Niemann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many ...	Inherited metabolic disorder, Lysosomal disease	SMPD1 [HSA:6609] [KO:K12350]
H00138	Farber lipogranulomatosis Farber disease	Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.	Inherited metabolic disorder, Lysosomal disease	ASAH1 [HSA:427] [KO:K12348]
H00139	alpha-Mannosidosis	Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of ...	Inherited metabolic disorder, Lysosomal disease	MAN2B1 [HSA:4125] [KO:K12311]
H00140	beta-Mannosidosis	Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing ...	Inherited metabolic disorder, Lysosomal disease	MANBA [HSA:4126] [KO:K01192]
H00141	Fucosidosis	Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products ...	Inherited metabolic disorder, Lysosomal disease	FUCA1 [HSA:2517] [KO:K01206]
H00142	Sialidosis Mucolipidosis I	Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and ...	Inherited metabolic disorder, Lysosomal disease	NEU1 [HSA:4758] [KO:K01186]
H00143	Mucolipidosis II I-cell disease	Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-1-phosphate transferase which is multimeric enzyme ...	Inherited metabolic disorder, Lysosomal disease	GNPTAB [HSA:79158] [KO:K08239]
H00144	Mucolipidosis IV	Mucolipidosis IV (ML IV) is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in ...	Inherited metabolic disorder, Lysosomal disease	MCOLN1 [HSA:57192] [KO:K04992]
H00145	Aspartylglucosaminuria	Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of ...	Inherited metabolic disorder, Lysosomal disease	AGA [HSA:175] [KO:K01444]
H00146	Alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides ...	Inherited metabolic disorder, Lysosomal disease	NAGA [HSA:4668] [KO:K01204]
H00147	Sialuria	Salla disease (SD) and infantile sialic acid storage disorder (ISSD) are rare autosomal recessive lysosomal storage diseases caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin ...	Inherited metabolic disorder, Lysosomal disease	(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409]
H00148	Lysosomal acid lipase deficiency	Lysosomal acid lipase (LAL) deficiency causes autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive ...	Inherited metabolic disorder, Lysosomal disease	LIPA [HSA:3988] [KO:K01052]
H00149	Neuronal ceroid lipofuscinosis	Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms ...	Inherited metabolic disorder, Lysosomal disease	(CLN1) PPT1 [HSA:5538] [KO:K01074] (CLN2) TPP1 [HSA:1200] [KO:K01279] (CLN3) CLN3 [HSA:1201] [KO:K12389] (CLN4A/6) CLN6 [HSA:54982] [KO:K12359] (CLN4B) DNAJC5 [HSA:80331] [KO:K09525] (CLN5) CLN5 [HSA:1203] [KO:K12390] (CLN7) MSFD8 [HSA:256471] [KO:K12307] (CLN8) CLN8 [HSA:2055] [KO:K12360] (CLN10) CTSD [HSA:1509] [KO:K01379] (CLN11) GRN [HSA:2896] [KO:K23879] (CLN12) ATP13A2 [HSA:23400] [KO:K13526] (CLN13) CTSF [HSA:8722] [KO:K01373] (CLN14) KCTD7 [HSA:154881] [KO:K21917]
H00150	Danon disease X-linked vacuolar cardiomyopathy and myopathy	Danon disease is an X-linked disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was ...	Inherited metabolic disorder, Lysosomal disease	LAMP2 [HSA:3920] [KO:K06528]
H00151	Cerebrotendinous xanthomatosis Van Bogaert-Scherer-Epstein Disease	Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly ...	Inherited metabolic disorder	CYP27A1 [HSA:1593] [KO:K00488]
H00152	Sitosterolemia	Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption ...	Inherited metabolic disorder	(STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683]
H00153	Familial combined hyperlipidemia	Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides ...	Inherited metabolic disorder	(FCHL1) USF1 [HSA:7391] [KO:K09106] (FCHL3) LPL [HSA:4023] [KO:K01059]
H00154	Hyperlipoproteinemia, type I	Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ...	Inherited metabolic disorder	LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001]
H00155	Familial hypercholesterolemia Autosomal dominant hypercholesterolaemia	Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ...	Inherited metabolic disorder	(FHCL1) LDLR [HSA:3949] [KO:K12473] (FHCL1) EPHX2 [HSA:2053] [KO:K08726] (FHCL1) GHR [HSA:2690] [KO:K05080] (FHCL1) PPP1R17 [HSA:10842] [KO:K08067] (FHCL1) APOA2 [HSA:336] [KO:K08758] (FHCL2) APOB [HSA:338] [KO:K14462] (FHCL3) PCSK9 [HSA:255738] [KO:K13050] (FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
H00156	Hyperlipoproteinemia, type III Dysbetalipoproteinemia	Hyperlipoproteinemia type III is an autosomal recessive disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E.	Inherited metabolic disorder	APOE [HSA:348] [KO:K04524]
H00157	Hyperlipoproteinemia, type V	Type V hyperlipoproteinemia is a hereditary disorder characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast. It has been reported that mutations ...	Inherited metabolic disorder	APOA5 [HSA:116519] [KO:K09025]
H00158	Lecithin:cholesterol acyltransferase deficiency Norum disease Fish-eye disease	Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue ...	Inherited metabolic disorder	LCAT [HSA:3931] [KO:K00650]
H00159	Tangier disease	Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis.	Inherited metabolic disorder	ABCA1 [HSA:19] [KO:K05641]
H00160	Abetalipoproteinemia Bassen-Kornzweig Disease	Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins.	Inherited metabolic disorder	MTTP [HSA:4547] [KO:K14463]
H00161	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.	Inherited metabolic disorder	(SLOS) DHCR7 [HSA:1717] [KO:K00213]

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