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Entry | Name | Description | Category | Pathway | Gene |
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H00118 | Congenital disorders of glycosylation type I | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves ... | Inherited metabolic disorder |
(CDG-Ia) PMM2 [HSA:5373] [KO:K17497] (CDG-Ib) MPI [HSA:4351] [KO:K01809] (CDG-Ic) ALG6 [HSA:29929] [KO:K03848] (CDG-Id) ALG3 [HSA:10195] [KO:K03845] (CDG-Ie) DPM1 [HSA:8813] [KO:K00721] (CDG-If) MPDU1 [HSA:9526] [KO:K09660] (CDG-Ig) ALG12 [HSA:79087] [KO:K03847] (CDG-Ih) ALG8 [HSA:79053] [KO:K03849] (CDG-Ii) ALG2 [HSA:85365] [KO:K03843] (CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001] (CDG-Ik) ALG1 [HSA:56052] [KO:K03842] (CDG-IL) ALG9 [HSA:79796] [KO:K03846] (CDG-Im) DOLK [HSA:22845] [KO:K00902] (CDG-In) RFT1 [HSA:91869] [KO:K06316] (CDG-Io) DPM3 [HSA:54344] [KO:K09659] (CDG-Ip) ALG11 [HSA:440138] [KO:K03844] (CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345] (CDG-Ir) DDOST [HSA:1650] [KO:K12670] (CDG-Is) ALG13 [HSA:79868] [KO:K07432] (CDG-It) PGM1 [HSA:5236] [KO:K01835] (CDG-Iu) DPM2 [HSA:8818] [KO:K09658] (CDG-Iv) NGLY1 [HSA:55768] [KO:K01456] (CDG-Iw) STT3A [HSA:3703] [KO:K07151] (CDG-Ix) STT3B [HSA:201595] [KO:K07151] (CDG-Iy) SSR4 [HSA:6748] [KO:K04571] (CDG-Iaa) NUS1 [HSA:116150] [KO:K19177] (CDG-Ibb) DHDDS [HSA:79947] [KO:K11778] (CDG-Icc) MAGT1 [HSA:84061] [KO:K19478] |
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H00119 | Congenital disorders of glycosylation type II | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing ... | Inherited metabolic disorder |
(CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) GCS1 [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] (CDG2BB) COG3 [HSA:83548] [KO:K20290] |
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H00120 | Muscular dystrophy-dystroglycanopathy type A | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGA1) POMT1 [HSA:10585] [KO:K00728] (MDDGA2) POMT2 [HSA:29954] [KO:K00728] (MDDGA3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGA4) FKTN [HSA:2218] [KO:K19872] (MDDGA5) FKRP [HSA:79147] [KO:K19873] (MDDGA6) LARGE [HSA:9215] [KO:K09668] (MDDGA7) CRPPA [HSA:729920] [KO:K21031] (MDDGA8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGA9) DAG1 [HSA:1605] [KO:K06265] (MDDGA10) RXYLT1 [HSA:10329] [KO:K21052] (MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654] (MDDGA12) POMK [HSA:84197] [KO:K17547] (MDDGA13) B4GAT1 [HSA:11041] [KO:K21032] (MDDGA14) GMPPB [HSA:29925] [KO:K00966] |
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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] |
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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] |
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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] |
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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] |
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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] |
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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] |
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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] | |
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] |
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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] |
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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] |
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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] |
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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] |
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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] |
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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] |
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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] |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |