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 |
|---|---|---|---|---|---|
| H00813 | LOC 症候群 | Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem ... | 先天奇形 | LAMA3 [HSA:3909] [KO:K06240] | |
| H00814 | 卵黄状黄斑ジストロフィー | Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular ... | 神経系疾患 |
(VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878] (VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343] (VMD4) IMPG1 [HSA:3617] [KO:K19016] (VMD5) IMPG2 [HSA:50939] [KO:K19017] |
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| H00815 | H 症候群 | The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism ... | 先天奇形 | SLC29A3 [HSA:55315] [KO:K15014] | |
| H00816 | 末梢神経障害を伴う脳梁欠損 | Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, ... | 神経系疾患 | SLC12A6 [HSA:9990] [KO:K14427] | |
| H00817 | 鰓・眼・顔面症候群 | Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing ... | 先天奇形 | TFAP2A [HSA:7020] [KO:K09176] | |
| H00818 | Birt-Hogg-Dube 症候群 | Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years ... | 先天奇形 |
(BHD1) FLCN [HSA:201163] [KO:K09594] (BHD2) PRDM10 [HSA:56980] [KO:K24643] |
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| H00819 | シュタルガルト病 | Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE) ... | 神経系疾患 |
(STGD1) ABCA4 [HSA:24] [KO:K05644] (STGD3) ELOVL4 [HSA:6785] [KO:K10249] (STGD4) PROM1 [HSA:8842] [KO:K06532] (STGD5) RDH8 [HSA:50700] [KO:K11150] |
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| H00820 | Bjornstad 症候群 | Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly ... | 先天性代謝異常症 | BCS1L [HSA:617] [KO:K08900] | |
| H00821 | 加齢黄斑変性 | Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... | 神経系疾患 |
(ARMD1) HMCN1 [HSA:83872] [KO:K17341] (ARMD1) CFHR1 [HSA:3078] [KO:K23815] (ARMD1) CFHR3 [HSA:10878] [KO:K23815] (ARMD2) ABCA4 [HSA:24] [KO:K05644] (ARMD3) FBLN5 [HSA:10516] [KO:K17340] (ARMD4) CFH [HSA:3075] [KO:K04004] (ARMD5) ERCC6 [HSA:2074] [KO:K10841] (ARMD6) RAX2 [HSA:84839] [KO:K09333] (ARMD7) HTRA1 [HSA:5654] [KO:K08784] (ARMD8) ARMS2 [HSA:387715] [KO:K25179] (ARMD9) C3 [HSA:718] [KO:K03990] (ARMD10) TLR4 [HSA:7099] [KO:K10160] (ARMD11) CST3 [HSA:1471] [KO:K13899] (ARMD12) CX3CR1 [HSA:1524] [KO:K04192] (ARMD13) CFI [HSA:3426] [KO:K01333] (ARMD14) C2 [HSA:717] [KO:K01332] (ARMD14) CFB [HSA:629] [KO:K01335] (ARMD15) C9 [HSA:735] [KO:K04000] |
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| H00822 | 腎低形成および腎欠損 | Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations ... | 先天奇形 |
(RHDA1) ITGA8 [HSA:8516] [KO:K06584] (RHDA2) FGF20 [HSA:26281] [KO:K04358] (RHDA3) GREB1L [HSA:80000] [KO:K27478] (RHDA4) GFRA1 [HSA:2674] [KO:K19895] |
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| H00823 | ABCD 症候群 | ABCD syndrome (ABCDS) is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait. | 先天奇形 | EDNRB [HSA:1910] [KO:K04198] | |
| H00824 | 関節と動脈の石灰化 | Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E ... | 循環器系疾患 | NT5E [HSA:4907] [KO:K19970] | |
| H00825 | 家族性斑点網膜症 | The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group ... | 神経系疾患 |
(DHRD) EFEMP1 [HSA:2202] [KO:K18262] (BLD) CFH [HSA:3075] [KO:K04004] (FA) RDH5 [HSA:5959] [KO:K00061] (FA/RPA) RLBP1 [HSA:6017] [KO:K19625] (RPA) PRPH2 [HSA:5961] [KO:K17343] (RPA) RHO [HSA:6010] [KO:K04250] (BCD) CYP4V2 [HSA:285440] [KO:K07427] |
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| H00826 | 眼瞼裂狭小・眼瞼下垂・逆内眼角贅皮症候群 | Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ... | 先天奇形 | FOXL2 [HSA:668] [KO:K09405] | |
| H00827 | Brooke-Spiegler 症候群 | Brooke-Spiegler syndrome (BRSS) is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas ... | 新生物 | CYLD [HSA:1540] [KO:K08601] | |
| H00828 | 家族性円柱腫症 | Familial cylindromatosis (FC) is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss ... | 新生物 | CYLD [HSA:1540] [KO:K08601] | |
| H00829 | 多発性家族性毛包上皮腫 | Multiple familial trichoepithelioma (MFT) is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in ... | 新生物 | CYLD [HSA:1540] [KO:K08601] | |
| H00830 | 肺静脈の連結不良を伴う肺胞毛細管形成異常 | Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN) ... | 呼吸器系疾患 | FOXF1 [HSA:2294] [KO:K09399] | |
| H00831 | 遺伝性ジストニア | Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... | 神経系疾患 |
(DYT1) TOR1A [HSA:1861] [KO:K22990] (DYT2) HPCA [HSA:3208] [KO:K23846] (DYT3) TAF1 [HSA:6872] [KO:K03125] (DYT4) TUBB4A [HSA:10382] [KO:K07375] (DYT5) GCH1 [HSA:2643] [KO:K01495] (DYT6) THAP1 [HSA:55145] [KO:K23203] (DYT8) PNKD [HSA:25953] [KO:K23864] (DYT9) SLC2A1 [HSA:6513] [KO:K07299] (DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897] (DYT11) SGCE [HSA:8910] [KO:K27061] (DYT12) ATP1A3 [HSA:478] [KO:K01539] (DYT16) PRKRA [HSA:8575] [KO:K24540] (DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922] (DYT24) ANO3 [HSA:63982] [KO:K19498] (DYT25) GNAL [HSA:2774] [KO:K04633] (DYT26) KCTD17 [HSA:79734] [KO:K21914] (DYT27) COL6A3 [HSA:1293] [KO:K06238] (DYT28) KMT2B [HSA:9757] [KO:K14959] (DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512] (DYT30) VPS16 [HSA:64601] [KO:K20180] (DYT31) AOPEP [HSA:84909] [KO:K09606] (DYT32) VPS11 [HSA:55823] [KO:K20179] (DYT33) EIF2AK2 [HSA:5610] [KO:K16195] (DYT34) KCNN2 [HSA:3781] [KO:K04943] (DYT35) SHQ1 [HSA:55164] [KO:K14764] (DYT36/EKD3) TMEM151A [HSA:256472] [KO:K28463] (DYT37) NUP54 [HSA:53371] [KO:K14308] |
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| H00832 | 中核群神経有棘赤血球症 | Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups ... | 神経系疾患 |
(CHAC) VPS13A [HSA:23230] [KO:K19525] (MLS) XK [HSA:7504] [KO:K19522] (HDL2) JPH3 [HSA:57338] [KO:K19530] (PKAN) PANK2 [HSA:80025] [KO:K09680] |
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| 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] |
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| 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] | |
| H00835 |
コハク酸セミアルデヒド脱水素酵素欠損症 4-ヒドロキシ酪酸尿症 |
Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability ... | 先天性代謝異常症 | (SSADHD) ALDH5A1 [HSA:7915] [KO:K00139] | |
| H00836 |
グルコーストランスポーター1欠損症 GLUT1欠損症候群 |
GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding ... | 神経系疾患 | (GLUT1DS1/2) SLC2A1 [HSA:6513] [KO:K07299] | |
| H00837 | レーバー先天性黒内障 | Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... | 神経系疾患 |
(LCA1) GUCY2D [HSA:3000] [KO:K12321] (LCA2) RPE65 [HSA:6121] [KO:K11158] (LCA3) SPATA7 [HSA:55812] [KO:K19655] (LCA4) AIPL1 [HSA:23746] [KO:K17767] (LCA5) LCA5 [HSA:167691] [KO:K24828] (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] (LCA7) CRX [HSA:1406] [KO:K09337] (LCA8) CRB1 [HSA:23418] [KO:K16681] (LCA9) NMNAT1 [HSA:64802] [KO:K06210] (LCA10) CEP290 [HSA:80184] [KO:K16533] (LCA11) IMPDH1 [HSA:3614] [KO:K00088] (LCA12) RD3 [HSA:343035] [KO:K25404] (LCA13) RDH12 [HSA:145226] [KO:K11153] (LCA14) LRAT [HSA:9227] [KO:K00678] (LCA15) TULP1 [HSA:7287] [KO:K19600] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] (LCA17) GDF6 [HSA:392255] [KO:K20012] (LCA18) PRPH2 [HSA:5961] [KO:K17343] (LCA19) USP45 [HSA:85015] [KO:K11844] (LCAEOD) TUBB4B [HSA:10383] [KO:K07375] |
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| H00838 | 先天性外眼筋線維症 | Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear ... | 神経系疾患 |
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185] (CFEOM2) PHOX2A [HSA:401] [KO:K09330] (CFEOM3A) TUBB3 [HSA:10381] [KO:K07375] (CFEOM5) COL25A1 [HSA:84570] [KO:K24356] |
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| H00839 | 孔脳症 | Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral ... | 先天奇形 |
(BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2) COL4A2 [HSA:1284] [KO:K06237] |
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| H00840 | 偽TORCH症候群 | Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually ... | 先天奇形 |
(PTORCH1) OCLN [HSA:100506658] [KO:K06088] (PTORCH2) USP18 [HSA:11274] [KO:K11846] (PTORCH3) STAT2 [HSA:6773] [KO:K11221] |
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| H00841 | 小児進行性球麻痺 | Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) ... | 神経変性疾患 | RFT2 [HSA:113278] [KO:K14620] | |
| H00842 | 疣贅状表皮発育異常症 | Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis ... | 皮膚疾患 |
(EV1) TMC6 [HSA:11322] [KO:K21988] (EV2) TMC8 [HSA:147138] [KO:K21988] (EV3) CIB1 [HSA:10519] [KO:K17259] (EV4) RHOH [HSA:399] [KO:K07873] (EV5) IL7 [HSA:3574] [KO:K05431] |