KEGG MEDICUS 疾患情報

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31 件中 1 〜 30 を表示 1 2 次へ
エントリ 名称 概要 カテゴリ パスウェイ 病因遺伝子
H00167 フェニルケトン尿症
高フェニルアラニン血症 		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 ... 先天性代謝異常症 (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 眼皮膚白皮症 Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. 先天性代謝異常症 (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]
H00183 ホモシスチン尿症 Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. 先天性代謝異常症 CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
(HMAD) MMADHC [HSA:27249] [KO:K26006]
H00184 高メチオニン血症 Hypermethioninemia is an inborn error of methionine metabolism. 先天性代謝異常症 MAT1A [HSA:4143] [KO:K00789]
AHCY [HSA:191] [KO:K01251]
GNMT [HSA:27232] [KO:K00552]
ADK [HSA:132] [KO:K00856]
H00211 ヘモクロマトーシス Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body. 先天性代謝異常症 (HFE1) HFE [HSA:3077] [KO:K26535]
(HFE2A) HJV [HSA:148738] [KO:K23100]
(HFE2B) HAMP [HSA:57817] [KO:K23106]
(HFE3) TFR2 [HSA:7036] [KO:K23910]
(HFE4) SLC40A1 [HSA:30061] [KO:K14685]
(HFE5) FTH1 [HSA:2495] [KO:K00522]
H00216 先天性副腎過形成症
先天性副腎酵素欠損症 		Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed ... 内分泌代謝疾患 STAR [HSA:6770] [KO:K16931]
HSD3B2 [HSA:3284] [KO:K00070]
CYP21A2 [HSA:1589] [KO:K00513]
CYP11B1 [HSA:1584] [KO:K00497]
CYP17A1 [HSA:1586] [KO:K00512]
H00262 葉酸感受性神経管欠損症 Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status ... 先天奇形 MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
H00265 遺伝性感覚性自律神経性ニューロパチー Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly ... 神経系疾患 (HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654]
(HSAN1C) SPTLC2 [HSA:9517] [KO:K00654]
(HSAN2A) WNK1 [HSA:65125] [KO:K08867]
(HSAN2B) FAM134B [HSA:54463] [KO:K23880]
(HSAN2C) KIF1A [HSA:547] [KO:K10392]
(HSAN2D) SCN9A [HSA:6335] [KO:K04841]
(HSAN3) IKBKAP [HSA:8518] [KO:K11373]
(HSAN4) NTRK1 [HSA:4914] [KO:K03176]
(HSAN5) NGFB [HSA:4803] [KO:K02582]
(HSAN6) DST [HSA:667] [KO:K10382]
(HSAN7) SCN11A [HSA:11280] [KO:K04843]
(HSAN8) PRDM12 [HSA:59335] [KO:K24255]
(HSAN9) TECPR2 [HSA:9895] [KO:K23881]
(HSN1D) ATL1 [HSA:51062] [KO:K17339]
(HSN1E) DNMT1 [HSA:1786] [KO:K00558]
(HSN1F) ATL3 [HSA:25923] [KO:K17339]
H00507 先天性角化異常症 Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... リボソーム病 (DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012] [KO:K22183]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCA3/A5) TINF2 [HSA:26277] [KO:K11112]
(DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
(DKCA6/B7) ACD [HSA:65057] [KO:K11114]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB2) NHP2 [HSA:55651] [KO:K11129]
(DKCB3) WRAP53 [HSA:55135] [KO:K23314]
(DKCB6) PARN [HSA:5073] [KO:K01148]
(DKCB8) DCLRE1B [HSA:64858] [KO:K15341]
(DKCD) TYMS [HSA:7298] [KO:K00560]
H00604 遺伝性難聴 (常染色体優性) Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... 神経系疾患 (DFNA1) DIAPH1 [HSA:1729] [KO:K05740]
(DFNA2A) KCNQ4 [HSA:9132] [KO:K04929]
(DFNA2B) GJB3 [HSA:2707] [KO:K07622]
(DFNA3A) GJB2 [HSA:2706] [KO:K07621]
(DFNA3B) GJB6 [HSA:10804] [KO:K07625]
(DFNA4A) MYH14 [HSA:79784] [KO:K10352]
(DFNA4B) CEACAM16 [HSA:388551] [KO:K06499]
(DFNA5) GSDME [HSA:1687] [KO:K22146]
(DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020]
(DFNA7) LMX1A [HSA:4009] [KO:K09371]
(DFNA8/12) TECTA [HSA:7007] [KO:K18273]
(DFNA9) COCH [HSA:1690] [KO:K23574]
(DFNA10) EYA4 [HSA:2070] [KO:K17622]
(DFNA11) MYO7A [HSA:4647] [KO:K10359]
(DFNA13) COL11A2 [HSA:1302] [KO:K19721]
(DFNA15) POU4F3 [HSA:5459] [KO:K09366]
(DFNA17) MYH9 [HSA:4627] [KO:K10352]
(DFNA20/26) ACTG1 [HSA:71] [KO:K05692]
(DFNA21) RIPOR2 [HSA:9750] [KO:K24818]
(DFNA22) MYO6 [HSA:4646] [KO:K10358]
(DFNA23) SIX1 [HSA:6495] [KO:K15614]
(DFNA25) SLC17A8 [HSA:246213] [KO:K12302]
(DFNA27) REST [HSA:5978] [KO:K09222]
(DFNA28) GRHL2 [HSA:79977] [KO:K09275]
(DFNA34) NLRP3 [HSA:114548] [KO:K12800]
(DFNA36) TMC1 [HSA:117531] [KO:K21988]
(DFNA37) COL11A1 [HSA:1301] [KO:K19721]
(DFNA39) DSPP [HSA:1834] [KO:K23573]
(DFNA40) CRYM [HSA:1428] [KO:K18258]
(DFNA41) P2RX2 [HSA:22953] [KO:K05216]
(DFNA44) CCDC50 [HSA:152137] [KO:K25949]
(DFNA50) MIR96 [HSA:407053] [KO:K17114]
(DFNA56) TNC [HSA:3371] [KO:K06252]
(DFNA64) DIABLO [HSA:56616] [KO:K10522]
(DFNA65) TBC1D24 [HSA:57465] [KO:K21841]
(DFNA66) CD164 [HSA:8763] [KO:K06546]
(DFNA67) OSBPL2 [HSA:9885] [KO:K20174]
(DFNA68) HOMER2 [HSA:9455] [KO:K15010]
(DFNA69) KITLG [HSA:4254] [KO:K05461]
(DFNA70) MCM2 [HSA:4171] [KO:K02540]
(DFNA71) DMXL2 [HSA:23312] [KO:K24155]
(DFNA72) SLC44A4 [HSA:80736] [KO:K15377]
(DFNA73) PTPRQ [HSA:374462] [KO:K16910]
(DFNA74) PDE1C [HSA:5137] [KO:K13755]
(DFNA75) TRRAP [HSA:8295] [KO:K08874]
(DFNA76) PLS1 [HSA:5357] [KO:K17275]
(DFNA77) ABCC1 [HSA:4363] [KO:K05665]
(DFNA78) SLC12A2 [HSA:6558] [KO:K10951]
(DFNA79) SCD5 [HSA:79966] [KO:K00507]
(DFNA80) GREB1L [HSA:80000] [KO:K27478]
(DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
(DFNA82) ATP2B2 [HSA:491] [KO:K05850]
(DFNA83) MAP1B [HSA:4131] [KO:K10429]
(DFNA84) ATP11A [HSA:23250] [KO:K26934]
(DFNA85) USP48 [HSA:84196] [KO:K11858]
(DFNA86) THOC1 [HSA:9984] [KO:K12878]
(DFNA87) PI4KB [HSA:5298] [KO:K19801]
(DFNA88) EPHA10 [HSA:284656] [KO:K08897]
(DFNA89) ATOH1 [HSA:474] [KO:K09083]
(DFNA90) MYO3A [HSA:53904] [KO:K08834]
H00605 遺伝性難聴 (常染色体劣性) Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... 神経系疾患 (DFNB1A) GJB2 [HSA:2706] [KO:K07621]
(DFNB1A) GJB3 [HSA:2707] [KO:K07622]
(DFNB1B) GJB6 [HSA:10804] [KO:K07625]
(DFNB2) MYO7A [HSA:4647] [KO:K10359]
(DFNB3) MYO15A [HSA:51168] [KO:K10361]
(DFNB4) SLC26A4 [HSA:5172] [KO:K14702]
(DFNB4) FOXI1 [HSA:2299] [KO:K09401]
(DFNB4) KCNJ10 [HSA:3766] [KO:K05003]
(DFNB6) TMIE [HSA:259236] [KO:K23907]
(DFNB7/11) TMC1 [HSA:117531] [KO:K21988]
(DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634]
(DFNB9) OTOF [HSA:9381] [KO:K19949]
(DFNB12) CDH23 [HSA:64072] [KO:K06813]
(DFNB12) ATP2B2 [HSA:491] [KO:K05850]
(DFNB15) GIPC3 [HSA:126326] [KO:K20056]
(DFNB16) STRC [HSA:161497] [KO:K24636]
(DFNB18A) USH1C [HSA:10083] [KO:K21877]
(DFNB18B) OTOG [HSA:340990] [KO:K25030]
(DFNB21) TECTA [HSA:7007] [KO:K18273]
(DFNB22) OTOA [HSA:146183] [KO:K25029]
(DFNB23) PCDH15 [HSA:65217] [KO:K16500]
(DFNB24) RDX [HSA:5962] [KO:K05762]
(DFNB25) GRXCR1 [HSA:389207] [KO:K17479]
(DFNB26) GAB1 [HSA:2549] [KO:K09593]
(DFNB26) METTL13 [HSA:51603] [KO:K25166]
(DFNB28) TRIOBP [HSA:11078] [KO:K23751]
(DFNB29) CLDN14 [HSA:23562] [KO:K06087]
(DFNB30) MYO3A [HSA:53904] [KO:K08834]
(DFNB31) WHRN [HSA:25861] [KO:K21879]
(DFNB32) CDC14A [HSA:8556] [KO:K06639]
(DFNB35) ESRRB [HSA:2103] [KO:K08553]
(DFNB36) ESPN [HSA:83715] [KO:K24047]
(DFNB37) MYO6 [HSA:4646] [KO:K10358]
(DFNB39) HGF [HSA:3082] [KO:K05460]
(DFNB42) ILDR1 [HSA:286676] [KO:K25781]
(DFNB44) ADCY1 [HSA:107] [KO:K08041]
(DFNB48) CIB2 [HSA:10518] [KO:K23837]
(DFNB49) MARVELD2 [HSA:153562] [KO:K17291]
(DFNB53) COL11A2 [HSA:1302] [KO:K19721]
(DFNB57) PDZD7 [HSA:79955] [KO:K21882]
(DFNB59) PJVK [HSA:494513] [KO:K22147]
(DFNB61) SLC26A5 [HSA:375611] [KO:K14703]
(DFNB63) LRTOMT [HSA:220074] [KO:K00545]
(DFNB66) DCDC2 [HSA:51473] [KO:K23405]
(DFNB67) LHFPL5 [HSA:222662] [KO:K23893]
(DFNB68) S1PR2 [HSA:9294] [KO:K04292]
(DFNB70) PNPT1 [HSA:87178] [KO:K00962]
(DFNB74) MSRB3 [HSA:253827] [KO:K07305]
(DFNB76) SYNE4 [HSA:163183] [KO:K23401]
(DFNB77) LOXHD1 [HSA:125336] [KO:K24822]
(DFNB79) TPRN [HSA:286262] [KO:K24164]
(DFNB82) GPSM2 [HSA:29899] [KO:K15837]
(DFNB84A) PTPRQ [HSA:374462] [KO:K16910]
(DFNB84B) OTOGL [HSA:283310] [KO:K25030]
(DFNB86) TBC1D24 [HSA:57465] [KO:K21841]
(DFNB88) ELMOD3 [HSA:84173] [KO:K23538]
(DFNB89) KARS1 [HSA:3735] [KO:K04567]
(DFNB91) SERPINB6 [HSA:5269] [KO:K13963]
(DFNB93) CABP2 [HSA:51475] [KO:K23531]
(DFNB94) NARS2 [HSA:79731] [KO:K01893]
(DFNB97) MET [HSA:4233] [KO:K05099]
(DFNB98) TSPEAR [HSA:54084] [KO:K24437]
(DFNB99) TMEM132E [HSA:124842] [KO:K17599]
(DFNB100) PPIP5K2 [HSA:23262] [KO:K13024]
(DFNB101) GRXCR2 [HSA:643226] [KO:K24294]
(DFNB102) EPS8 [HSA:2059] [KO:K17277]
(DFNB103) CLIC5 [HSA:53405] [KO:K05025]
(DFNB104) RIPOR2 [HSA:9750] [KO:K24818]
(DFNB106) EPS8L2 [HSA:64787] [KO:K17277]
(DFNB107) WBP2 [HSA:23558] [KO:K22524]
(DFNB108) ROR1 [HSA:4919] [KO:K05122]
(DFNB109) ESRP1 [HSA:54845] [KO:K14947]
(DFNB110) COCH [HSA:1690] [KO:K23574]
(DFNB111) MPZL2 [HSA:10205] [KO:K27316]
(DFNB112) BDP1 [HSA:55814] [KO:K15198]
(DFNB113) CEACAM16 [HSA:388551] [KO:K06499]
(DFNB114) GRAP [HSA:10750] [KO:K23694]
(DFNB115) SPNS2 [HSA:124976] [KO:K23677]
(DFNB116) CLDN9 [HSA:9080] [KO:K06087]
(DFNB117) CLRN2 [HSA:645104] [KO:K23841]
(DFNB119) SPATA5L1 [HSA:79029] [KO:K26051]
(DFNB120) MINAR2 [HSA:100127206] [KO:K24830]
(DFNB121) GPR156 [HSA:165829] [KO:K04617]
(DFNB122) TMTC4 [HSA:84899] [KO:K23424]
(DFNB123) STX4 [HSA:6810] [KO:K13502]
(DFNB124) PKHD1L1 [HSA:93035] [KO:K27624]
(DFNB125) GAS2 [HSA:2620] [KO:K24627]
H00768 常染色体劣性遺伝性知的発達障害
常染色体劣性遺伝性精神遅滞 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... 精神及び行動の障害 (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K19478]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K09259]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102] [KO:K28020]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
(MRT74) APC2 [HSA:10297] [KO:K02085]
(MRT75) PIDD1 [HSA:55367] [KO:K10130]
(MRT76) GRIA1 [HSA:2890] [KO:K05197]
(MRT77) CEP104 [HSA:9731] [KO:K16458]
(MRT78) WDR11 [HSA:55717] [KO:K24260]
(MRT79) TPR [HSA:7175] [KO:K09291]
(MRT80) CASP2 [HSA:835] [KO:K02186]
(MRT81) ASCC3 [HSA:10973] [KO:K18663]
(MRT82) NSUN6 [HSA:221078] [KO:K21971]
(MRT83) KICS2 [HSA:144577] [KO:K23297]
H00833 脳の鉄沈着を伴う神経変性疾患 Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as ... 神経系疾患 (NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) C19orf12 [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
(NBIA9) FTH1 [HSA:2495] [KO:K00522]
H00834 グアニジノ酢酸メチルトランスフェラーゼ欠損症 Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a ... 先天性代謝異常症 GAMT [HSA:2593] [KO:K00542]
H00846 Fuhrmann 症候群 Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia ... 先天奇形 WNT7A [HSA:7476] [KO:K00572]
H00847 Al-Awadi/Raas-Rothschild 症候群 Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss ... 先天奇形 WNT7A [HSA:7476] [KO:K00572]
H00849 脳クレアチン欠乏症候群 Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency ... 先天性代謝異常症 (CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
(CCDS2) GAMT [HSA:2593] [KO:K00542]
(CCDS3) GATM [HSA:2628] [KO:K00613]
H00964 Poor metabolism of thiopurines Poor metabolism of thiopurines (THPM) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of ... 先天性代謝異常症 (THPM1) TPMT [HSA:7172] [KO:K00569]
(THPM2) NUDT15 [HSA:55270] [KO:K03574]
H01005 ドーパミンベータヒドロキシラーゼ欠損症 Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... 神経系疾患 DBH [HSA:1621] [KO:K00503]
H01266 高カロチン血症およびビタミン A 欠乏症 Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential ... 先天性代謝異常症 BCMO1 [HSA:53630] [KO:K00515]
H01285 メチルコバラミン欠乏G Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine ... 先天性代謝異常症 MTR [HSA:4548] [KO:K00548]
H01646 うつ病 Major depressive disorder (MDD) is the most common psychiatric disorder mainly characterized by depressed mood, loss of interest, feelings of worthlessness, and a high risk of suicide. Accumulated evidence ... 精神及び行動の障害 TPH2 [HSA:121278] [KO:K00502]
HTR2A [HSA:3356] [KO:K04157]
FKBP5 [HSA:2289] [KO:K09571]
H01649 統合失調症 Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive ... 精神及び行動の障害 (SCZD4) PRODH [HSA:5625] [KO:K00318]
(SCZD6) NRG1 [HSA:3084] [KO:K05455]
(SCZD9) DISC1 [HSA:27185] [KO:K16534]
(SCZD15) SHANK3 [HSA:85358] [KO:K15009]
(SZCD17) NRXN1 [HSA:9378] [KO:K07377]
(SCZD18) SLC1A1 [HSA:6505] [KO:K05612]
(SCZD19) RBM12 [HSA:10137] [KO:K24526]
MTHFR [HSA:4524] [KO:K25004]
CHI3L1 [HSA:1116] [KO:K17523]
SYN2 [HSA:6854] [KO:K19941]
DRD3 [HSA:1814] [KO:K04146]
RTN4R [HSA:65078] [KO:K16659]
DAOA [HSA:267012] [KO:K24397]
HTR2A [HSA:3356] [KO:K04157]
AKT1 [HSA:207] [KO:K04456]
C4A [HSA:720] [KO:K03989]
APOL2 [HSA:23780] [KO:K14480]
APOL4 [HSA:80832] [KO:K14480]
COMT [HSA:1312] [KO:K00545]
H01714 慢性閉塞性肺疾患 (COPD) Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation ... 呼吸器系疾患 SERPINA1 [HSA:5265] [KO:K03984]
HMOX1 [HSA:3162] [KO:K00510]
MMP1 [HSA:4312] [KO:K01388]
H01895 注意欠陥多動障害 (ADHD) Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized ... 精神及び行動の障害 (ADHD) DRD5 [HSA:1816] [KO:K05840]
(ADHD) DRD4 [HSA:1815] [KO:K04147]
(ADHD7) TPH2 [HSA:121278] [KO:K00502]
(ADHD8) CDH2 [HSA:1000] [KO:K06736]
H02460 顔異形と骨格異常を伴う神経発達障害 Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... 先天奇形 (NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403]
(DEGCAGS) ZNF699 [HSA:374879] [KO:K09228]
(NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898]
(NEDDFSB) HNRNPR [HSA:10236] [KO:K13161]
(NEDFSS) TRPM3 [HSA:80036] [KO:K04978]
(NEDSFF) DPH5 [HSA:51611] [KO:K00586]
H02557 ドーパ反応性ジストニア Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa ... 神経系疾患 (DYT5a) GCH1 [HSA:2643] [KO:K01495]
(DYT5b) TH [HSA:7054] [KO:K00501]
H02751 起立性低血圧 Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ... 循環器系疾患 (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
H02905 Santos 症候群 Santos syndrome is a novel syndrome characterized by fibular agenesis/hypoplasia, clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause ... 先天奇形 WNT7A [HSA:7476] [KO:K00572]
H02929 ヘムオキシゲナーゼ1欠損症 Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder characterized by intravascular haemolysis with peculiarly low bilirubin levels, nephritis, and features of systemic inflammation ... 先天性代謝異常症 HMOX1 [HSA:3162] [KO:K00510]
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