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Entry Name Description Category Pathway Gene
H00125 Fabry disease
Anderson-Fabry disease 		... glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00126 Gaucher disease ... (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells ... Inherited metabolic disorder, Lysosomal disease (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [HSA:5660] [KO:K12382]
H00127 Metachromatic leukodystrophy ... recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation of sulfatide in the central and peripheral nervous systems ... 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 		... storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		... storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs ... 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 in the accumulation ... 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 		... lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs ... Inherited metabolic disorder, Lysosomal disease (MPS6) ARSB [HSA:411] [KO:K01135]
H00132 Mucopolysaccharidosis type VII
Sly syndrome 		... storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4 ... Inherited metabolic disorder, Lysosomal disease (MPS7) GUSB [HSA:2990] [KO:K01195]
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]
H00136 Niemann-Pick disease type C ... lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal ... 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 ... and cholesterol in many organs. ASM plays an important role in normal membrane turnover and is one of the key enzymes responsible for the production of ceramide. Type A NPD is the infantile form characterized ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
H00139 alpha-Mannosidosis ... lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis ... Inherited metabolic disorder, Lysosomal disease MAN2B1 [HSA:4125] [KO:K12311]
H00140 beta-Mannosidosis ... an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory ... Inherited metabolic disorder, Lysosomal disease MANBA [HSA:4126] [KO:K01192]
H00141 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 of glycoproteins ... Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00142 Sialidosis
Mucolipidosis I 		... autosomal recessive lysosomal storage disorder caused by deficient activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00143 Mucolipidosis II
I-cell disease 		... 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 involved in ... Inherited metabolic disorder, Lysosomal disease GNPTAB [HSA:79158] [KO:K08239]
H00144 Mucolipidosis IV ... recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ... Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00145 Aspartylglucosaminuria ... lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00147 Sialuria ... rare autosomal recessive lysosomal storage diseases caused by mutations in SLC17A5 gene which codes for the protein sialin. Sialin is lysosomal membrane transporter that exports free sialic acid from lysosomes ... Inherited metabolic disorder, Lysosomal disease (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
(French type) GNE [HSA:10020] [KO:K12409]
H00148 Lysosomal acid lipase deficiency ... recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman ... Inherited metabolic disorder, Lysosomal disease LIPA [HSA:3988] [KO:K01052]
H00149 Neuronal ceroid lipofuscinosis ... accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital ... 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 		... disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen ... 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 ... 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 triglyceride levels in plasma. Inherited metabolic disorder LPL [HSA:4023] [KO:K01059]
APOC2 [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
H00155 Familial hypercholesterolemia
Autosomal dominant 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 of APOB or PCSK9 gene. This ... 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 ... 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 in APOA5 cause type V hyperlipoproteinemia 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]
H00162 Sjogren-Larsson syndrome Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis. Inherited metabolic disorder ALDH3A2 [HSA:224] [KO:K00128]
H00163 Alkaptonuria Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and ... Inherited metabolic disorder HGD [HSA:3081] [KO:K00451]
H00164 Carbamoyl phosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. Inherited metabolic disorder CPS1 [HSA:1373] [KO:K01948]
H00165 Tyrosinemia The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) ... Inherited metabolic disorder (TYRSN1) FAH [HSA:2184] [KO:K01555]
(TYRSN2) TAT [HSA:6898] [KO:K00815]
(TYRSN3) HPD [HSA:3242] [KO:K00457]
H00167 Phenylketonuria
Hyperphenylalaninemia 		Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine ... Inherited metabolic disorder (PKU) PAH [HSA:5053] [KO:K00500]
(HPABH4A) PTS [HSA:5805] [KO:K01737]
(HPABH4B) GCH1 [HSA:2643] [KO:K01495]
(HPABH4C) QDPR [HSA:5860] [KO:K00357]
(HPABH4D) PCBD1 [HSA:5092] [KO:K01724]
(HPANBH4) DNAJC12 [HSA:56521] [KO:K09532]
H00168 Oculocutaneous albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. Inherited metabolic disorder (OCA1) TYR [HSA:7299] [KO:K00505]
(OCA2) OCA2 [HSA:4948] [KO:K24200]
(OCA2) MC1R [HSA:4157] [KO:K04199]
(OCA3) TYRP1 [HSA:7306] [KO:K00506]
(OCA4) SLC45A2 [HSA:51151] [KO:K15378]
(OCA6) SLC24A5 [HSA:283652] [KO:K13753]
(OCA7) LRMDA [HSA:83938] [KO:K24399]
(OCA8) DCT [HSA:1638] [KO:K01827]
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