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 |
|---|---|---|---|---|---|
| H00061 | プリオン病 | Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these ... | 神経変性疾患 | hsa05020 Prion disease | PRNP (mutation) [HSA:5621] [KO:K05634] |
| H00062 |
球脊髄性筋萎縮症 (SBMA) ケネディ病 X-連鎖性脊髄性筋萎縮症 1 (SMAX1) |
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease ... | 神経変性疾患 | (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557] | |
| H00063 | 脊髄小脳失調症 | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | 神経変性疾患 | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA4) ZFHX3 [HSA:463] [KO:K09378] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA25) PNPT1 [HSA:87178] [KO:K00962] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42/42ND) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] (SCA51) THAP11 [HSA:57215] [KO:K23211] |
| H00064 | 毛細血管拡張性運動失調症 | Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous ... | 免疫系疾患; 神経系疾患 | (AT) ATM [HSA:472] [KO:K04728] | |
| H00065 | アレキサンダー病 | Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological ... | 神経変性疾患 | GFAP (mutation) [HSA:2670] [KO:K05640] | |
| H00066 | レビー小体型認知症 | Lewy Body dementia (LDB) is neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. It is the second most-common degenerative dementia after ... | 神経変性疾患 |
SNCA (mutation, triplication) [HSA:6622] [KO:K04528] SNCB (mutation) [HSA:6620] [KO:K24201] LRRK2 (mutation) [HSA:120892] [KO:K08844] GBA (mutation) [HSA:2629] [KO:K01201] |
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| H00067 | フリードライヒ運動失調症 | Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron ... | 神経変性疾患 | FXN (GAA repeat expansion) [HSA:2395] [KO:K19054] | |
| H00068 |
レーベル遺伝性視神経症 レーバー遺伝性視神経萎縮症 |
Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting ... | 神経系疾患 |
ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] CYTB [HSA:4519] [KO:K00412] COX1 [HSA:4512] [KO:K02256] COX3 [HSA:4514] [KO:K02262] ATP6 [HSA:4508] [KO:K02126] |
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| H00069 | 糖原病 | Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... | 先天性代謝異常症 |
(GSD1A) G6PC1 [HSA:2538] [KO:K01084] (GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171] (GSD2I/GSD2L) GAA [HSA:2548] [KO:K12316] (GSD3) AGL [HSA:178] [KO:K01196] (GSD4) GBE1 [HSA:2632] [KO:K00700] (GSD5) PYGM [HSA:5837] [KO:K00688] (GSD6) PYGL [HSA:5836] [KO:K00688] (GSD7) PFKM [HSA:5213] [KO:K00850] (GSD9A) PHKA2 [HSA:5256] [KO:K07190] (GSD9B) PHKB [HSA:5257] [KO:K07190] (GSD9C) PHKG2 [HSA:5261] [KO:K00871] (GSD9D) PHKA1 [HSA:5255] [KO:K07190] (GSD10) PGAM2 [HSA:5224] [KO:K01834] (GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593] (GSD11) LDHA [HSA:3939] [KO:K00016] (GSD12) ALDOA [HSA:226] [KO:K01623] (GSD13) ENO3 [HSA:2027] [KO:K01689] (GSD14) PGM1 [HSA:5236] [KO:K01835] (GSD15) GYG1 [HSA:2992] [KO:K00750] (GSD0A) GYS2 [HSA:2998] [KO:K00693] (GSD0B) GYS1 [HSA:2997] [KO:K00693] (GSDH) PRKAG2 [HSA:51422] [KO:K07200] |
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| H00070 | ガラクトース血症 | Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ... | 先天性代謝異常症 |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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| H00071 | フルクトース血症 | Hereditary fructose intolerance or fructosemia (fructose in the blood) is an autosomal recessive disorder caused by a defect in an aldolase gene (aldolase B), which is normally expressed in liver and kidney ... | 先天性代謝異常症 | ALDOB [HSA:229] [KO:K01623] | |
| H00072 | ピルビン酸脱水素酵素複合体欠損症 | Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... | 先天性代謝異常症 |
(PDHAD) PDHA1 [HSA:5160] [KO:K00161] (PDHBD) PDHB [HSA:5162] [KO:K00162] (PDHDD) DLAT [HSA:1737] [KO:K00627] (PDHPD) PDP1 [HSA:54704] [KO:K01102] (PDHXD) PDHX [HSA:8050] [KO:K13997] (DLDD) DLD [HSA:1738] [KO:K00382] |
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| H00073 | ピルビン酸カルボキシラーゼ欠損症 | Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate. | 先天性代謝異常症 | PC [HSA:5091] [KO:K01958] | |
| H00074 | カナバン病 | Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus ... | 先天性代謝異常症 | ASPA [HSA:443] [KO:K01437] | |
| H00075 |
レフスム病 多発神経炎型遺伝性失調症 |
Refsum disease (RD) is an autosomal recessive sensory motor neuropathy characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations ... | 先天性代謝異常症, ペルオキシソーム病 |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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| H00076 | コケイン症候群 | Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing ... | 神経変性疾患 |
(CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
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| H00077 | 進行性核上性麻痺 | Progressive supranuclear palsy (PSNP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with ... | 神経変性疾患 | MAPT [HSA:4137] [KO:K04380] | |
| H00078 | 前頭側頭葉変性症 | Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated ... | 神経変性疾患 |
(Pick disease/ FTD1) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD1) PSEN1 [HSA:5663] [KO:K04505] (FTD2) GRN [HSA:2896] [KO:K23879] |
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| H00079 | 喘息 | Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway ... | 免疫系疾患 | hsa05310 Asthma |
IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
| H00080 | 全身性エリテマトーデス | Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain ... | 免疫系疾患 | hsa05322 Systemic lupus erythematosus |
(SLE) PTPN22 [HSA:26191] [KO:K18024] (SLE) FCGR2A [HSA:2212] [KO:K06472] (SLE) FCGR2B [HSA:2213] [KO:K12560] (SLE) CTLA4 [HSA:1493] [KO:K06538] (SLE) TREX1 [HSA:11277] [KO:K10790] (SLE) DNASE1 [HSA:1773] [KO:K11994] (SLEB1) TLR5 [HSA:7100] [KO:K10168] (SLEB9) CR2 [HSA:1380] [KO:K04012] (SLEB10) IRF5 [HSA:3663] [KO:K09446] (SLEB11) STAT4 [HSA:6775] [KO:K11222] (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995] (SLEB17) TLR7 [HSA:51284] [KO:K05404] (SLEB18) PLD4 [HSA:122618] [KO:K16860] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] C2 [HSA:717] [KO:K01332] C4A [HSA:720] [KO:K03989] TNF [HSA:7124] [KO:K03156] FCGR3A [HSA:2214] [KO:K06463] FCGR3B [HSA:2215] [KO:K06463] CRP [HSA:1401] [KO:K16143] ZNF423 [HSA:23090] [KO:K22870] |
| H00081 | 橋本病 | Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid ... | 免疫系疾患 | CTLA4 [HSA:1493] [KO:K06538] | |
| H00082 | グレーブス病 | Graves disease is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies ... | 免疫系疾患 | ||
| H00083 | 同種移植片拒絶反応 | Allograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen ... | 免疫系疾患 | hsa05330 Allograft rejection |
TNF [HSA:7124] [KO:K03156] IL10 [HSA:3586] [KO:K05443] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IFNG [HSA:3458] [KO:K04687] HLA-DMA [HSA:3108] [KO:K06752] ICAM1 [HSA:3383] [KO:K06490] CTLA4 [HSA:1493] [KO:K06538] ACE [HSA:1636] [KO:K01283] ITGB3 [HSA:3690] [KO:K06493] |
| H00084 | 移植片対宿主病 | Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD ... | 免疫系疾患 | hsa05332 Graft-versus-host disease |
IL10 [HSA:3586] [KO:K05443] TNF [HSA:7124] [KO:K03156] IL1A [HSA:3552] [KO:K04383] IL1RN [HSA:3557] [KO:K05481] IFNG [HSA:3458] [KO:K04687] IL6 [HSA:3569] [KO:K05405] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IL13 [HSA:3596] [KO:K05435] TNFRSF1B [HSA:7133] [KO:K05141] IL2 [HSA:3558] [KO:K05429] |
| H00085 | 無ガンマグロブリン血症 | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | 免疫系疾患 |
(AGMX1) BTK [HSA:695] [KO:K07370] (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470] (AGM2) IGLL1 [HSA:3543] [KO:K06554] (AGM3) CD79A [HSA:973] [KO:K06506] (AGM4) BLNK [HSA:29760] [KO:K07371] (AGM5) LRRC8A [HSA:56262] [KO:K22038] (AGM6) CD79B [HSA:974] [KO:K06507] (AGM7) PIK3R1 [HSA:5295] [KO:K02649] (AGM8A/8B) TCF3 [HSA:6929] [KO:K09063] (AGM9) SLC39A7 [HSA:7922] [KO:K14713] (AGM10) SPI1 [HSA:6688] [KO:K09438] |
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| H00086 | 高 IgM を伴う免疫不全症 | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | 免疫系疾患 |
(HIGM1) CD40LG [HSA:959] [KO:K03161] (HIGM2) AICDA [HSA:57379] [KO:K10989] (HIGM3) CD40 [HSA:958] [KO:K03160] (HIGM5) UNG [HSA:7374] [KO:K03648] |
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| H00087 | 他の体液性免疫不全症 | Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of ... | 免疫系疾患 |
DNMT3B [HSA:1789] [KO:K17399] IGKC Ig heavy chain |
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| H00088 | 分類不能型免疫不全症 | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | 免疫系疾患 |
(CVID1) ICOS [HSA:29851] [KO:K06713] (CVID2) TNFRSF13B [HSA:23495] [KO:K05150] (CVID3) CD19 [HSA:930] [KO:K06465] (CVID4) TNFRSF13C [HSA:115650] [KO:K05151] (CVID5) MS4A1 [HSA:931] [KO:K06466] (CVID6) CD81 [HSA:975] [KO:K06508] (CVID7) CR2 [HSA:1380] [KO:K04012] (CVID8) LRBA [HSA:987] [KO:K24181] (CVID10) NFKB2 [HSA:4791] [KO:K04469] (CVID11) IL21 [HSA:59067] [KO:K05434] (CVID12) NFKB1 [HSA:4790] [KO:K02580] (CVID13) IKZF1 [HSA:10320] [KO:K09220] (CVID14) IRF2BP2 [HSA:359948] [KO:K27448] (CVID15) SEC61A1 [HSA:29927] [KO:K10956] |
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| H00089 |
IFN-gamma/IL-12 軸 メンデル遺伝型マイコバクテリア易感染症 (MSMD) |
The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ... | 原発性免疫不全症 |
(IMD27) IFNGR1 [HSA:3459] [KO:K05132] (IMD28) IFNGR2 [HSA:3460] [KO:K05133] (IMD29) IL12B [HSA:3593] [KO:K05425] (IMD30) IL12RB1 [HSA:3594] [KO:K05063] (IMD31) STAT1 [HSA:6772] [KO:K11220] (IMD32) IRF8 [HSA:3394] [KO:K10155] (IMD33) IKBKG [HSA:8517] [KO:K07210] (IMD34) CYBB [HSA:1536] [KO:K21421] (IMD38) ISG15 [HSA:9636] [KO:K12159] (IMD42) RORC [HSA:6097] [KO:K08534] |
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| H00090 |
NK細胞障害 免疫不全症 (IMD20) |
A patient with a mutation in CD16, also known as FcgRIIIa, has been identified. He was a 3-year-old boy, and suffered from recurrent viral respiratory tract infections since birth. CD16 is part of the ... | 原発性免疫不全症 | FCGR3A [HSA:2214] [KO:K06463] |