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 |
|---|---|---|---|---|---|
| H00393 |
エンテロウイルス感染症 非ポリオエンテロウイルス感染症 |
Enteroviruses are a large and diverse group of viruses belonging to the genus Enterovirus in the family Picornaviridae of +ssRNA viruses. Most non-polio enterovirus infections are mild, but some of them ... | ウイルス感染症 | ||
| H00394 | 麻疹 | Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The ... | ウイルス感染症 | hsa05162 Measles | |
| H00395 | 風疹 | Rubella, also known as German measles, is an infection caused by the rubella virus in the Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing ... | ウイルス感染症 | ||
| H00396 |
流行性耳下腺炎 おたふく風邪 |
Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic ... | ウイルス感染症 | ||
| H00397 | ロスリバー熱 | Ross River fever is an infectious disease caused by Ross River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated ... | ウイルス感染症 | ||
| H00398 | インフルエンザ | Influenza is typically a self-limiting upper respiratory disease caused by three types of influenza viruses: influenza A, B, and C. Influenza A and B viruses cause highly contagious diseases whereas influenza ... | ウイルス感染症 | hsa05164 Influenza A | |
| H00399 |
鳥インフルエンザ 新型インフルエンザ (H5N1) |
Avian influenza is an infectious disease caused by Influenzavirus A that belongs to the genus Alphainfluenzavirus in the Orthomyxoviridae family of -ssRNA virus. Influenzavirus A viruses are species specific ... | ウイルス感染症 | hsa05164 Influenza A | |
| H00400 | パラインフルエンザ感染症 | Human parainfluenza viruses (HPIV) are single-stranded RNA viruses belonging to the paramyxovirus family. They are the second most common causes of pediatric lower respiratory tract disease leading to ... | ウイルス感染症 | ||
| H00401 | RSウイルス感染症 | Respiratory syncytial virus (RSV) of the Paramyxoviridae family is a major cause of acute lower respiratory tract illness in infants and young children. It affects the elderly and immunocompromised individuals ... | ウイルス感染症 | ||
| H00402 | 重症急性呼吸器症候群 | Severe acute respiratory syndrome (SARS) is a viral respiratory illness caused by SARS coronavirus. SARS first emerged in 2002 and gained global from 2002 to 2003. The main mode of transmission of SARS ... | ウイルス感染症 | ||
| H00403 | ヌクレオチド除去修復機構異常疾患 | Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations ... | 先天奇形 |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS/XFEPS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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| H00404 |
伝染性紅斑 第五病 リンゴ病 |
Erythema infectiosum, or fifth disease, is a benign pediatric condition caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent ... | ウイルス感染症 | ||
| H00405 |
マールブルグ病 マールブルグ出血熱 |
Marburg disease is a severe infectious disease caused by marburgviruses within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent ... | ウイルス感染症 | ||
| H00406 |
後天性免疫不全症候群 (AIDS) エイズ |
Since the discovery in 1980s, HIV/AIDS has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS can be ascribed to the profound immune deficiency in patients ... | 免疫系疾患; ウイルス感染症 | hsa05170 Human immunodeficiency virus 1 infection | |
| H00407 | ペルオキシソームβ酸化系酵素欠損症 | Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system ... | 先天性代謝異常症 |
ACOX1 [HSA:51] [KO:K00232] HSD17B4 [HSA:3295] [KO:K12405] AMACR [HSA:23600] [KO:K01796] SCP2 [HSA:6342] [KO:K08764] |
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| H00408 | 1型糖尿病 | The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated ... | 代謝疾患; 免疫系疾患; 内分泌系疾患 | hsa04940 Type I diabetes mellitus |
(T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
| H00409 | 2型糖尿病 | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | 内分泌代謝疾患 | hsa04930 Type II diabetes mellitus |
(T2D1) CAPN10 [HSA:11132] [KO:K08579] (T2D5) TBC1D4 [HSA:9882] [KO:K17902] IGF2BP2 [HSA:10644] [KO:K17392] SLC30A8 [HSA:169026] [KO:K14695] KCNJ11 [HSA:3767] [KO:K05004] MTNR1B [HSA:4544] [KO:K04286] ENPP1 [HSA:5167] [KO:K01513] PPARG [HSA:5468] [KO:K08530] HNF1B [HSA:6928] [KO:K08034] TCF7L2 [HSA:6934] [KO:K04491] WFS1 [HSA:7466] [KO:K14020] PAX4 [HSA:5078] [KO:K08032] HNF1B [HSA:6928] [KO:K08034] AKT2 [HSA:208] [KO:K04456] ABCC8 [HSA:6833] [KO:K05032] GCK [HSA:2645] [KO:K12407] NEUROD1 [HSA:4760] [KO:K08033] GPD2 [HSA:2820] [KO:K00111] IRS1 [HSA:3667] [KO:K16172] PPP1R3A [HSA:5506] [KO:K07189] HNF4A [HSA:3172] [KO:K07292] |
| H00410 | 若年発症成人型糖尿病 (MODY) | Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years ... | 内分泌代謝疾患 | hsa04950 Maturity onset diabetes of the young |
(MODY1) HNF4A [HSA:3172] [KO:K07292] (MODY2) GCK [HSA:2645] [KO:K12407] (MODY3) HNF1A [HSA:6927] [KO:K08036] (MODY4) PDX1 [HSA:3651] [KO:K07594] (MODY5) HNF1B [HSA:6928] [KO:K08034] (MODY6) NEUROD1 [HSA:4760] [KO:K08033] (MODY7) KLF11 [HSA:8462] [KO:K09209] (MODY8) CEL [HSA:1056] [KO:K12298] (MODY9) PAX4 [HSA:5078] [KO:K08032] (MODY10) INS [HSA:3630] [KO:K04526] (MODY11) BLK [HSA:640] [KO:K08890] (MODY12) ABCC8 [HSA:6833] [KO:K05032] (MODY13) KCNJ11 [HSA:3767] [KO:K05004] (MODY14) APPL1 [HSA:26060] [KO:K08733] |
| H00411 | A型肝炎 | Hepatitis A is an infectious disease caused by hepatitis A virus (HAV), also called hepatovirus A, belonging to the Picornaviridae family of +ssRNA viruses. HAV can be transmitted through contaminated ... | ウイルス感染症 | ||
| H00412 | B型肝炎 | Hepatitis B is an infectious disease caused by hepatitis B virus (HBV) belonging to the Hepadnaviridae family of dsDNA-RT viruses. Both acute and chronic hepatitis B can be caused by blood-borne HBV infections ... | ウイルス感染症 | hsa05161 Hepatitis B |
IFNAR2 (susceptibility) [HSA:3455] [KO:K05131] IFNGR1 (susceptibility) [HSA:3459] [KO:K05132] IL10RB (susceptibility) [HSA:3588] [KO:K05135] |
| H00413 | C型肝炎 | Hepatitis C is a blood-borne infectious disease caused by Hepatitis C virus (HCV) belonging to the Flaviviridae family of +ssRNA viruses. HCV infection often becomes chronic and can lead to degenerative ... | ウイルス感染症 | hsa05160 Hepatitis C |
CCR5 (resistance) [HSA:1234] [KO:K04180] IFNG (response to therapy) [HSA:3458] [KO:K04687] IFNL3 (response to therapy) [HSA:282617] [KO:K22669] PTPRC (susceptibility) [HSA:5788] [KO:K06478] |
| H00414 | D型肝炎 | Hepatitis D is caused by hepatitis D virus (HDV), also called hepatitis delta virus, which is a satellite that can infect human only in the presence of hepatitis B virus (HBV). | ウイルス感染症 | ||
| H00415 | E型肝炎 | Hepatitis E is an infectious disease caused by hepatitis E virus (HEV) belonging to the Hepeviridae family of +ssRNA viruses. HEV is transmitted through the fecal-oral route. | ウイルス感染症 | ||
| H00416 | オムスク出血熱 | Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic ... | ウイルス感染症 | ||
| H00417 | アルストレム症候群 | Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia ... | 先天奇形 | ALMS1 [HSA:7840] [KO:K16741] | |
| H00418 | バルデ・ビードル症候群 | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... | 先天性代謝異常症 |
(BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) CFAP418 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
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| H00419 | 先天性全身性リポジストロフィー | Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes ... | 先天性代謝異常症 |
(CGL1) AGPAT2 [HSA:10555] [KO:K13509] (CGL2) BSCL2 [HSA:26580] [KO:K19365] (CGL3) CAV1 [HSA:857] [KO:K06278] (CGL4) CAVIN1 [HSA:284119] [KO:K19387] (CGL5) PCYT1A [HSA:5130] [KO:K00968] |
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| H00420 | 家族性部分型リポジストロフィー | Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have ... | 先天性代謝異常症 |
(FPLD2) LMNA [HSA:4000] [KO:K12641] (FPLD3) PPARG [HSA:5468] [KO:K08530] (FPLD4) PLIN1 [HSA:5346] [KO:K08768] (FPLD5) CIDEC [HSA:63924] [KO:K25878] (FPLD6) LIPE [HSA:3991] [KO:K07188] (FPLD7) CAV1 [HSA:857] [KO:K06278] (FPLD8) ADRA2A [HSA:150] [KO:K04138] (FPLD9) PLAAT3 [HSA:11145] [KO:K16817] (APLD) LMNB2 [HSA:84823] [KO:K07611] AKT2 [HSA:208] [KO:K04456] |
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| H00421 | ムコ多糖症 | Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is ... | 先天性代謝異常症, ライソゾーム病 |
(MPS1) IDUA [HSA:3425] [KO:K01217] (MPS2) IDS [HSA:3423] [KO:K01136] (MPS3A) SGSH [HSA:6448] [KO:K01565] (MPS3B) NAGLU [HSA:4669] [KO:K01205] (MPS3C) HGSNAT [HSA:138050] [KO:K10532] (MPS3D) GNS [HSA:2799] [KO:K01137] (MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] (MPS6) ARSB [HSA:411] [KO:K01135] (MPS7) GUSB [HSA:2990] [KO:K01195] (MPS9) HYAL1 [HSA:3373] [KO:K01197] (MPS10) ARSK [HSA:153642] [KO:K12376] |
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| H00422 | 糖タンパク分解反応異常症 | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... | 先天性代謝異常症, ライソゾーム病 |
(Sialidosis) NEU1 [HSA:4758] [KO:K01186] (GSL) CTSA [HSA:5476] [KO:K13289] (MANSA) MAN2B1 [HSA:4125] [KO:K12311] (MANSB) MANBA [HSA:4126] [KO:K01192] (AGU) AGA [HSA:175] [KO:K01444] (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206] (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204] |