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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| H00573 | Townes-Brocks 症候群 | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ... | 先天奇形 |
(TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154] |
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| H00574 | コフィン・ローリー症候群 | Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial ... | 先天奇形 | RPS6KA3 [HSA:6197] [KO:K04373] | |
| H00575 | 腎尿細管形成不全 | Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading ... | 先天奇形 |
REN [HSA:5972] [KO:K01380] AGT [HSA:183] [KO:K09821] ACE [HSA:1636] [KO:K01283] AGTR1 [HSA:185] [KO:K04166] |
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| H00576 | ピアソン症候群 | Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal ... | 泌尿器系疾患 | LAMB2 [HSA:3913] [KO:K06243] | |
| H00577 | 症候性全般てんかん | Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... | 神経系疾患 |
(RMFSL) BRAT1 [HSA:221927] [KO:K23112] (EPILX) SYN1 [HSA:6853] [KO:K19941] |
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| H00578 | エプスタイン症候群 | Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... | 循環器系疾患 | MYH9 [HSA:4627] [KO:K10352] | |
| H00579 | HANAC 症候群 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include ... | 先天奇形 | COL4A1 [HSA:1282] [KO:K06237] | |
| H00580 | シムケ免疫性骨形成不全 | Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive ... | 先天奇形 | SMARCAL1 [HSA:50485] [KO:K14440] | |
| H00581 | アルポート症候群 | Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV ... | 先天奇形 |
(ATS1) COL4A5 [HSA:1287] [KO:K06237] (ATS2) COL4A4 [HSA:1286] [KO:K06237] (ATS3A_3B) COL4A3 [HSA:1285] [KO:K06237] |
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| H00582 | 良性家族性血尿 | Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... | 泌尿器系疾患 |
(BFH1) COL4A4 [HSA:1286] [KO:K06237] (BFH2) COL4A3 [HSA:1285] [KO:K06237] |
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| H00583 | Opitz-GBBB 症候群 | Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB ... | 先天奇形 | (GBBB1) MID1 [HSA:4281] [KO:K08285] | |
| H00584 | 単純型表皮水疱症 | Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister ... | 先天奇形 |
(EBS1) KRT14 [HSA:3861] [KO:K07604] (EBS2) KRT5 [HSA:3852] [KO:K07605] (EBS3) DST [HSA:667] [KO:K10382] (EBS4) EXPH5 [HSA:23086] [KO:K22236] (EBS5) PLEC1 [HSA:5339] [KO:K10388] (EBS6) KLHL24 [HSA:54800] [KO:K10461] (EBS7) CD151 [HSA:977] [KO:K06537] |
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| H00585 | ヘミデスモソーム型表皮水疱症 | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome ... | 先天奇形 | PLEC [HSA:5339] [KO:K10388] | |
| H00586 | 接合部型表皮水疱症 | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by ... | 先天奇形 |
(JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244] (JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240] (JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246] (JEB4) COL17A1 [HSA:1308] [KO:K07603] (JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525] (JEB6) ITGA6 [HSA:3655] [KO:K06485] (JEB7) ITGA3 [HSA:3675] [KO:K06482] |
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| H00587 | 栄養障害型表皮水疱症 | Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The dystrophic forms of epidermolysis bullosa, in which tissue separation ... | 先天奇形 | COL7A1 [HSA:1294] [KO:K16628] | |
| H00588 | キンドラー症候群 | Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity. | 皮膚疾患 | KIND1 [HSA:55612] [KO:K17082] | |
| H00589 | 滲出性硝子体網膜症 | Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of ... | 神経系疾患 |
(EVR1) FZD4 [HSA:8322] [KO:K02354] (EVR2) NDP [HSA:4693] [KO:K25688] (EVR4) LRP5 [HSA:4041] [KO:K03068] (EVR5) TSPAN12 [HSA:23554] [KO:K17355] (EVR6) ZNF408 [HSA:79797] [KO:K24372] (EVR7) CTNNB1 [HSA:1499] [KO:K02105] (EVR8) LRP6 [HSA:4040] [KO:K03068] |
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| H00590 | 先天性筋ジストロフィー | Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system ... | 神経系疾患; 筋骨格疾患 |
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] (MDRP) BET1 [HSA:10282] [KO:K08504] (MYOS) GOSR2 [HSA:9570] [KO:K08496] |
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| H00591 | 顔面肩甲上腕型筋ジストロフィー | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... | 神経系疾患; 筋骨格疾患 |
(FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
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| H00592 |
カルパイン異常症 肢帯型筋ジストロフィー2A |
Limb-girdle muscular dystrophy 2A (LGMDR1), also known as calpainopathy, is caused by autosomal recessive mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. ... | 神経系疾患; 筋骨格疾患 | (LGMDR1/LGMDD4) CAPN3 [HSA:825] [KO:K08573] | |
| H00593 | 肢帯型筋ジストロフィー | Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital ... | 神経系疾患; 筋骨格疾患 |
(LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (LGMDR29) SNUPN [HSA:10073] [KO:K13151] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
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| H00594 | 遠位型ミオパチー | Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... | 神経系疾患; 筋骨格疾患 |
(MPD1) MYH7 [HSA:4625] [KO:K17751] (MPD3) HNRNPA1 [HSA:3178] [KO:K12741] (MPD4) FLNC [HSA:2318] [KO:K27393] (MPD5) ADSS1 [HSA:122622] [KO:K01939] (MPD6) ACTN2 [HSA:88] [KO:K21073] (MPD7) SMPX [HSA:23676] [KO:K24209] (MPDT) CAV3 [HSA:859] [KO:K12959] (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] (NM) GNE [HSA:10020] [KO:K12409] (DMRV) SQSTM1 [HSA:8878] [KO:K14381] (WDM) TIA1 [HSA:7072] [KO:K13201] (TMD) TTN [HSA:7273] [KO:K12567] |
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| H00595 | 筋原線維性ミオパチー | Myofibrillar myopathy (MFM) is a group of genetically distinct disorders linked by common morphologic features observed on muscle histology. MFM is characterized by slowly progressive weakness that can ... | 神経系疾患; 筋骨格疾患 |
(MFM1) DES [HSA:1674] [KO:K07610] (MFM2A/2B) CRYAB [HSA:1410] [KO:K09542] (MFM3) MYOT [HSA:9499] [KO:K19875] (MFM4) LDB3 [HSA:11155] [KO:K19867] (MFM5) FLNC [HSA:2318] [KO:K27393] (MFM6) BAG3 [HSA:9531] [KO:K09557] (MFM7) KY [HSA:339855] [KO:K24456] (MFM8) PYROXD1 [HSA:79912] [KO:K24426] (MFM9) TTN [HSA:7273] [KO:K12567] (MFM10) SVIL [HSA:6840] [KO:K10369] (MFM11) UNC45B [HSA:146862] [KO:K21991] (MFM12) MYL2 [HSA:4633] [KO:K10351] (MFM13) HSPB8 [HSA:26353] [KO:K08879] |
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| H00596 |
埜中ミオパチー 埜中遠位ミオパチー 遺伝性封入体ミオパチー |
Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine ... | 神経系疾患; 筋骨格疾患 | GNE [HSA:10020] [KO:K12409] | |
| H00597 | シュナイダー ロビンソン症候群 | Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder ... | 先天奇形 | SMS [HSA:6611] [KO:K00802] | |
| H00598 | 46,XX 精巣性分化疾患 | 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female ... | 生殖器系疾患 |
(SRXX1) SRY [HSA:6736] [KO:K09266] (SRXX2) SOX9 [HSA:6662] [KO:K18435] (SRXX3) SOX3 [HSA:6658] [KO:K09267] (SRXX4) NR5A1 [HSA:2516] [KO:K08560] (SRXX5) NR2F2 [HSA:7026] [KO:K08548] |
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| H00599 |
卵巣形成不全 46,XX 性腺形成不全症 |
Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... | 生殖器系疾患 |
(ODG1) FSHR [HSA:2492] [KO:K04247] (ODG2) BMP15 [HSA:9210] [KO:K05498] (ODG3) PSMC3IP [HSA:29893] [KO:K06695] (ODG4) MCM9 [HSA:254394] [KO:K10738] (ODG5) SOHLH1 [HSA:402381] [KO:K22495] (ODG6) NUP107 [HSA:57122] [KO:K14301] (ODG7) MRPS22 [HSA:56945] [KO:K17401] (ODG8) ESR2 [HSA:2100] [KO:K08551] (ODG9) SPIDR [HSA:23514] [KO:K22806] (ODG10) ZSWIM7 [HSA:125150] [KO:K25770] (ODG11) HROB [HSA:78995] [KO:K27803] |
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| H00600 |
ミュラー管無発生 Mayer Rokitansky Kuster Hauser 症候群 |
Mullerian agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It ... | 生殖器系疾患 | WNT4 [HSA:54361] [KO:K00408] | |
| H00601 | ハッチンソン・ギルフォード症候群 | Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled ... | 先天性代謝異常症 | LMNA [HSA:4000] [KO:K12641] | |
| H00602 |
糖質コルチコイド反応性アルドステロン症 家族性高アルドステロン症 I 型 |
Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and ... | 内分泌代謝疾患 |
CYP11B1 [HSA:1584] [KO:K00497] CYP11B2 [HSA:1585] [KO:K07433] |