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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| H00783 | 熱性けいれん | Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile ... | 神経系疾患 |
(FEB2) HCN2 [HSA:610] [KO:K04955] (FEB3) SCN1A [HSA:6323] [KO:K04833] (FEB4) ADGRV1 [HSA:84059] [KO:K18263] (FEB8) GABRG2 [HSA:2566] [KO:K05186] (FEB11) CPA6 [HSA:57094] [KO:K08782] |
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| H00784 | 限局性常染色体劣性遺伝性貧毛症 | Localized autosomal recessive hypotrichosis (LAH) is a rare non-syndromic human alopecia/hypotrichosis that is inherited as an autosomal recessive trait. Affected individuals display short, sparse hairs ... | 皮膚疾患 |
(LAH1) DSG4 [HSA:147409] [KO:K07599] (LAH2) LIPH [HSA:200879] [KO:K19404] (LAH3) P2Y5 [HSA:10161] [KO:K04273] |
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| H00785 | 若年性黄斑変性を伴う先天性貧毛症 | Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration ... | 先天奇形 | CDH3 [HSA:1001] [KO:K06796] | |
| H00786 | 乏毛症 | Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... | 皮膚疾患 |
(HYPT1) APCDD1 [HSA:147495] [KO:K25812] (HYPT2) CDSN [HSA:1041] [KO:K23457] (HYPT3) KRT74 [HSA:121391] [KO:K07605] (HYPT4/MUHH1) HRURF [HSA:120766137] [KO:K28373] (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277] (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599] (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404] (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273] (HYPT11) SNRPE [HSA:6635] [KO:K11097] (HYPT12) RPL21 [HSA:6144] [KO:K02889] (HYPT13) KRT71 [HSA:112802] [KO:K07605] (HYPT14) LSS [HSA:4047] [KO:K01852] (HYPT15) C3orf52 [HSA:79669] [KO:K26953] |
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| H00787 | 夜盲症 | Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal ... | 神経系疾患 |
(CSNB1A) NYX [HSA:60506] [KO:K08129] (CSNB1B) GRM6 [HSA:2916] [KO:K04608] (CSNB1C) TRPM1 [HSA:4308] [KO:K04976] (CSNB1D) SLC24A1 [HSA:9187] [KO:K13749] (CSNB1E) GPR179 [HSA:440435] [KO:K22961] (CSNB1F) LRIT3 [HSA:345193] [KO:K24491] (CSNB1H) GNB3 [HSA:2784] [KO:K07825] (CSNB1I) GUCY2D [HSA:3000] [KO:K12321] (CSNB2A) CACNA1F [HSA:778] [KO:K04853] (CSNB2B) CABP4 [HSA:57010] [KO:K23531] (CSNBAD1) RHO [HSA:6010] [KO:K04250] (CSNBAD2) PDE6B [HSA:5158] [KO:K13756] (CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631] (CSNBO1) SAG [HSA:6295] [KO:K19627] (CSNBO2) GRK1 [HSA:6011] [KO:K00909] |
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| H00788 |
Hoyeraal-Hreidarsson 症候群 X連鎖先天性角化異常症 |
Hoyeraal-Hreidarsson syndrome is an X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation ... | リボソーム病 | DKC1 [HSA:1736] [KO:K11131] | |
| H00789 | 円錐角膜 | Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. | 神経系疾患 |
(KTCN1) VSX1 [HSA:30813] [KO:K09335] (KTCN9) TUBA3D [HSA:113457] [KO:K07374] |
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| H00790 | KLICK 症候群 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre ... | 先天奇形 | POMP [HSA:51371] [KO:K11599] | |
| H00791 | 播種性表在性光線性汗孔角化症 | Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most ... | 先天奇形 | MVK [HSA:4598] [KO:K00869] | |
| H00792 | ワールブルグ・ ミクロ症候群 | Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism ... | 先天奇形 |
(WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270] (WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937] (WARBM3) RAB18 [HSA:22931] [KO:K07910] (WARBM4) TBC1D20 [HSA:128637] [KO:K20372] |
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| H00793 | 好中球減少を伴う多形皮膚萎縮症 | Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and ... | 皮膚疾患 | USB1 [HSA:79650] [KO:K23093] | |
| H00794 | アロマターゼ過剰症 | Aromatase excess syndrome (AEXS) is a rare disorder characterized by gynecomastia. Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal ... | 内分泌代謝疾患 | CYP19A1 (gain of function) [HSA:1588] [KO:K07434] | |
| H00795 | 乾癬を伴う脂漏様皮膚炎 | Seborrhea-like dermatosis with psoriasiform elements is a chronic dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration ... | 免疫系疾患; 皮膚疾患 | ZNF750 [HSA:79755] [KO:K24377] | |
| H00796 | 網状色素性皮膚症 | Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the ... | 先天奇形 | KRT14 [HSA:3861] [KO:K07604] | |
| H00797 | Martsolf 症候群 | Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone ... | 先天奇形 |
(MARTS1) RAB3GAP2 [HSA:25782] [KO:K19937] (MARTS2) RAB3GAP1 [HSA:22930] [KO:K18270] |
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| H00798 | 家族性手根管症候群 | Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with ... | 神経系疾患 |
(CTS1) TTR [HSA:7276] [KO:K20731] (CTS2) COMP [HSA:1311] [KO:K04659] |
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| H00799 | CEDNIK 症候群 | CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations ... | 先天奇形 | SNAP29 [HSA:9342] [KO:K08509] | |
| H00800 | Loeys-Dietz 症候群 | Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder characterized by arterial aneurysms and dissections, pectus excavatum, craniosynostosis, cleft palate, congenital heart disease, and thin, translucent ... | 先天奇形 |
(LDS1) TGFBR1 [HSA:7046] [KO:K04674] (LDS2) TGFBR2 [HSA:7048] [KO:K04388] (LDS3) SMAD3 [HSA:4088] [KO:K23605] (LDS4) TGFB2 [HSA:7042] [KO:K13376] (LDS5) TGFB3 [HSA:7043] [KO:K13377] (LDS6) SMAD2 [HSA:4087] [KO:K04500] |
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| H00801 | 家族性胸部大動脈瘤及び解離 | Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single ... | 循環器系疾患 |
(AAT3/LDS2) TGFBR2 [HSA:7048] [KO:K04388] (AAT4) MYH11 [HSA:4629] [KO:K10352] (AAT5/LDS1) TGFBR1 [HSA:7046] [KO:K04674] (AAT6) ACTA2 [HSA:59] [KO:K12313] (AAT7) MYLK [HSA:4638] [KO:K00907] (AAT8) PRKG1 [HSA:5592] [KO:K07376] (AAT9) MFAP5 [HSA:8076] [KO:K25410] (AAT10) LOX [HSA:4015] [KO:K00277] (AAT11) FOXE3 [HSA:2301] [KO:K09398] (AAT12) THSD4 [HSA:79875] [KO:K23377] |
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| H00802 | エーラス・ダンロス症候群 | Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other ... | 先天奇形 |
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721] (EDSCL2) COL5A2 [HSA:1290] [KO:K19721] (EDSCL3) THBS2 [HSA:7058] [KO:K04659] (EDSCLL1) TNXB [HSA:7148] [KO:K06252] (EDSCLL2) AEBP1 [HSA:165] [KO:K21392] |
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| H00803 | SeSAME/EAST 症候群 | Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte ... | 神経系疾患 | KCNJ10 [HSA:3766] [KO:K05003] | |
| H00804 | Multiple cutaneous and uterine leiomyomata | Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and ... | 新生物 | FH [HSA:2271] [KO:K01679] | |
| H00805 | 硝子体網膜変性 | The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes ... | 神経系疾患 |
(STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (SVD) KCNJ13 [HSA:3769] [KO:K05006] (WGVRP) VCAN [HSA:1462] [KO:K06793] (KNO1) COL18A1 [HSA:80781] [KO:K06823] (ESCS) NR2E3 [HSA:10002] [KO:K08546] (VRCP) BEST1 [HSA:7439] [KO:K13878] |
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| H00806 | 良性家族性新生児けいれん | Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural ... | 神経系疾患 |
(BFNS1) KCNQ2 [HSA:3785] [KO:K04927] (BFNS2) KCNQ3 [HSA:3786] [KO:K04928] |
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| H00807 | 夜間前頭葉てんかん | Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating ... | 神経系疾患 |
(ENFL1) CHRNA4 [HSA:1137] [KO:K04806] (ENFL3) CHRNB2 [HSA:1141] [KO:K04813] (ENFL4) CHRNA2 [HSA:1135] [KO:K04804] (ENFL5) KCNT1 [HSA:57582] [KO:K04946] |
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| H00808 | 特発性全般てんかん | Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... | 神経系疾患 |
(EIG6) CACNA1H [HSA:8912] [KO:K04855] (EIG8) CASR [HSA:846] [KO:K04612] (EIG9) CACNB4 [HSA:785] [KO:K04865] (EIG10) GABRD [HSA:2563] [KO:K05184] (EIG11) CLCN2 [HSA:1181] [KO:K05011] (EIG12) SLC2A1 [HSA:6513] [KO:K07299] (EIG13) GABRA1 [HSA:2554] [KO:K05175] (EIG14) SLC12A5 [HSA:57468] [KO:K23967] (EIG15) RORB [HSA:6096] [KO:K08533] (EIG16) KCNMA1 [HSA:3778] [KO:K04936] (EIG18) HCN4 [HSA:10021] [KO:K04957] (EIG19) USP25 [HSA:29761] [KO:K11849] |
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| H00809 | 家族性側頭葉てんかん | Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early ... | 神経系疾患 |
(ETL1) LGI1 [HSA:9211] [KO:K25428] (ETL5) CPA6 [HSA:57094] [KO:K08782] (ETL7) RELN [HSA:5649] [KO:K06249] (ETL8) GAL [HSA:51083] [KO:K05244] |
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| H00810 | 進行性ミオクローヌスてんかん | Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously ... | 神経系疾患 |
(EPM1A) CSTB [HSA:1476] [KO:K13907] (EPM1B) PRICKLE1 [HSA:144165] [KO:K04511] (EPM2A) EPM2A [HSA:7957] [KO:K14165] (EPM2B) NHLRC1 [HSA:378884] [KO:K10602] (EPM3) KCTD7 [HSA:154881] [KO:K21917] (EPM4) SCARB2 [HSA:950] [KO:K12384] (EPM6) GOSR2 [HSA:9570] [KO:K08496] (EPM7) KCNC1 [HSA:3746] [KO:K04887] (EPM8) CERS1 [HSA:10715] [KO:K04710] (EPM9) LMNB2 [HSA:84823] [KO:K07611] (EPM10) PRDM8 [HSA:56978] [KO:K20797] (EPM11) SEMA6B [HSA:10501] [KO:K06842] (EPM12) SLC7A6OS [HSA:84138] [KO:K28237] |
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| H00811 | 遠位関節拘縮症 | Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA ... | 先天奇形 |
(DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374] (DA1B) MYBPC1 [HSA:4604] [KO:K12557] (DA1C) MYL11 [HSA:29895] [KO:K12758] (DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220] (DA2B1) TNNI2 [HSA:7136] [KO:K12043] (DA2B2) TNNT3 [HSA:7140] [KO:K12046] (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128] (DA5D) ECEL1 [HSA:9427] [KO:K09610] (DA7) MYH8 [HSA:4626] [KO:K24220] (DA9) FBN2 [HSA:2201] [KO:K23342] (DA11) MET [HSA:4233] [KO:K05099] (DA12) ADAMTS15 [HSA:170689] [KO:K08629] |
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| H00812 | トリコモナス症 | Trichomoniasis is the most common curable sexually transmitted infection caused by a motile flagellate protozoan parasite. Women with trichomoniasis have a wide spectrum of symptoms, ranging from a relatively ... | 寄生虫感染症 |