KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H00122 | 多発性外骨腫症 | Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones. | 先天性代謝異常症 |
(EXT1) EXT1 [HSA:2131] [KO:K02366] (EXT2) EXT2 [HSA:2132] [KO:K02367] |
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| H00123 | ムコ多糖症 IV 型 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] |
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| H00124 | GM2 ガングリオシドーシス | GM2 gangliosidoses (GM2G) are a group of autosomal recessive lysosomal storage disorders caused by deficiency of beta-hexosaminiase or the noncatalytic GM2 activator in glycosphingolipid catabolism. The ... | 先天性代謝異常症, ライソゾーム病 |
(GM2G1) HEXA [HSA:3073] [KO:K12373] (GM2G2) HEXB [HSA:3074] [KO:K12373] (GM2AB) GM2A [HSA:2760] [KO:K12383] |
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| H00125 | ファブリー病 | 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 ... | 先天性代謝異常症, ライソゾーム病 | GLA [HSA:2717] [KO:K01189] | |
| H00126 | ゴーシェ病 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201] (GDSAPC) PSAP [HSA:5660] [KO:K12382] |
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| H00127 | 異染性白質ジストロフィー | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(MLD) ARSA [HSA:410] [KO:K01134] (MLDSAPB) PSAP [HSA:5660] [KO:K12382] |
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| H00128 |
ムコ多糖症 I 型 ハーラー・シャイエ症候群 ハーラー症候群 シャイエ症候群 |
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 ... | 先天性代謝異常症, ライソゾーム病 | (MPS1) IDUA [HSA:3425] [KO:K01217] | |
| H00129 |
ムコ多糖症 II 型 ハンター症候群 |
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 ... | 先天性代謝異常症, ライソゾーム病 | (MPS2) IDS [HSA:3423] [KO:K01136] | |
| H00130 | ムコ多糖症 III 型 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(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 |
ムコ多糖症 VI 型 マロトー・ラミー症候群 |
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 ... | 先天性代謝異常症, ライソゾーム病 | (MPS6) ARSB [HSA:411] [KO:K01135] | |
| H00132 |
ムコ多糖症 VII 型 スライ症候群 |
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 ... | 先天性代謝異常症, ライソゾーム病 | (MPS7) GUSB [HSA:2990] [KO:K01195] | |
| H00133 |
ムコ多糖症 IX 型 ヒアルロニダーゼ欠損症 |
Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase. | 先天性代謝異常症, ライソゾーム病 | (MPS9) HYAL1 [HSA:3373] [KO:K01197] | |
| H00134 | X連鎖魚鱗癬 | 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 ... | 先天奇形 | STS [HSA:412] [KO:K01131] | |
| H00135 |
クラッベ病 グロボイド細胞白質ジストロフィー |
Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase. | 先天性代謝異常症, ライソゾーム病 |
(KRB) GALC [HSA:2581] [KO:K01202] (KRBSAPA) PSAP [HSA:5660] [KO:K12382] |
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| H00136 | ニーマン・ピック病 C 型 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(NPC1/ D) NPC1 [HSA:4864] [KO:K12385] (NPC2) NPC2 [HSA:10577] [KO:K13443] |
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| H00137 | ニーマン・ピック病 A/B 型 | 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 ... | 先天性代謝異常症, ライソゾーム病 | SMPD1 [HSA:6609] [KO:K12350] | |
| H00138 |
ファーバー脂肪性肉芽腫症 ファーバー病 |
Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency. | 先天性代謝異常症, ライソゾーム病 | ASAH1 [HSA:427] [KO:K12348] | |
| H00139 | α-マンノシドーシス | 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 ... | 先天性代謝異常症, ライソゾーム病 | MAN2B1 [HSA:4125] [KO:K12311] | |
| H00140 | β-マンノシドーシス | 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 ... | 先天性代謝異常症, ライソゾーム病 | MANBA [HSA:4126] [KO:K01192] | |
| H00141 | フコース症 | 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 ... | 先天性代謝異常症, ライソゾーム病 | FUCA1 [HSA:2517] [KO:K01206] | |
| H00142 |
シアリドーシス ムコリピドーシス 1 型 |
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 ... | 先天性代謝異常症, ライソゾーム病 | NEU1 [HSA:4758] [KO:K01186] | |
| H00143 |
ムコリピドーシス II 型 I 細胞病 |
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 ... | 先天性代謝異常症, ライソゾーム病 | GNPTAB [HSA:79158] [KO:K08239] | |
| H00144 | ムコリピドーシス IV 型 | 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 ... | 先天性代謝異常症, ライソゾーム病 | MCOLN1 [HSA:57192] [KO:K04992] | |
| H00145 | アスパルチルグルコサミン尿症 | 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 ... | 先天性代謝異常症, ライソゾーム病 | AGA [HSA:175] [KO:K01444] | |
| H00146 | α-N-アセチルガラクトサミニダーゼ欠損症 | 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 ... | 先天性代謝異常症, ライソゾーム病 | NAGA [HSA:4668] [KO:K01204] | |
| H00147 | シアル酸尿症 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301] (French type) GNE [HSA:10020] [KO:K12409] |
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| H00148 | リソソーム酸性リパーゼ欠損症 | 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 ... | 先天性代謝異常症, ライソゾーム病 | LIPA [HSA:3988] [KO:K01052] | |
| H00149 | 神経セロイドリポフスチン症 | 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 ... | 先天性代謝異常症, ライソゾーム病 |
(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 | ダノン病 | 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 ... | 先天性代謝異常症, ライソゾーム病 | LAMP2 [HSA:3920] [KO:K06528] | |
| H00151 |
脳腱黄色腫症 ヴァン-ボガエール病 |
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 ... | 先天性代謝異常症 | CYP27A1 [HSA:1593] [KO:K00488] |