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 |
|---|---|---|---|---|---|
| H01867 | 先天性腎尿路奇形 | Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent ... | 先天奇形 |
(CAKUT1) DSTYK [HSA:25778] [KO:K16288] (CAKUT2) TBX18 [HSA:9096] [KO:K10183] (CAKUT3) NRIP1 [HSA:8204] [KO:K17965] (CAKUTHED) PBX1 [HSA:5087] [KO:K09355] |
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| H01868 | 僧帽弁逸脱症 | Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral ... | 循環器系疾患 |
(MVP2) DCHS1 [HSA:8642] [KO:K16507] (MVP3) DZIP1 [HSA:22873] [KO:K16470] |
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| H01869 | 巨大膀胱短小結腸腸管蠕動不全症 | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset ... | 先天奇形 |
(MMIHS1) MYLK [HSA:4638] [KO:K00907] (MMIHS2) MYH11 [HSA:4629] [KO:K10352] (MMIHS3) LMOD1 [HSA:25802] [KO:K22030] (MMIHS4) MYL9 [HSA:10398] [KO:K12755] (MMIHS5) ACTG2 [HSA:72] [KO:K12315] |
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| H01870 | 小水無脳症 | Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without ... | 先天奇形 | NDE1 [HSA:54820] [KO:K16738] | |
| H01871 | 腸管神経節細胞僅少症 | Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung ... | 消化器系疾患 | ||
| H01872 | 小頭症-毛細血管異形成症候群 | Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy ... | 先天奇形 | STAMBP [HSA:10617] [KO:K11866] | |
| H01873 | 閉塞性細気管支炎 | Obliterative bronchiolitis (OB), also known as bronchiolitis obliterans, is a rare but serious condition resulting in progressive and irreversible airway obstruction. This disease is the result of injury ... | 呼吸器系疾患 | ||
| H01874 | クロンカイト・カナダ症候群 | Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide ... | 消化器系疾患 | ||
| H01875 | 乳幼児肝血管腫 | Infantile hepatic hemangioma (IHH), although rare, is the most common benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree ... | 新生物 | ||
| H01876 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems ... | 先天奇形 | KIF11 [HSA:3832] [KO:K10398] | |
| H01877 | 15q13.3 微細欠失症候群 | Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and ... | 染色体異常 |
CHRNA7 [HSA:1139] [KO:K04809] KLF13 [HSA:51621] [KO:K09208] TRPM1 [HSA:4308] [KO:K04976] FAN1 [HSA:22909] [KO:K15363] |
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| H01878 | Al-Raqad 症候群 | Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects ... | 先天奇形 | DCPS [HSA:28960] [KO:K12584] | |
| H01879 | ウィデマンスタイナー症候群 | Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral ... | 先天奇形 | KMT2A [HSA:4297] [KO:K09186] | |
| H01880 | 常染色体劣性遺伝性小頭症および網脈絡膜症 | Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism ... | 先天奇形 |
(MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573] (MCCRP2) PLK4 [HSA:10733] [KO:K08863] (MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571] |
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| H01881 | 他の脳奇形を伴う複合皮質異形成 | Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... | 先天奇形 |
(CDCBM1) TUBB3 [HSA:10381] [KO:K07375] (CDCBM2) KIF5C [HSA:3800] [KO:K10396] (CDCBM3) KIF2A [HSA:3796] [KO:K10393] (CDCBM4) TUBG1 [HSA:7283] [KO:K10389] (CDCBM5) TUBB2A [HSA:7280] [KO:K07375] (CDCBM6) TUBB [HSA:203068] [KO:K07375] (CDCBM7) TUBB2B [HSA:347733] [KO:K07375] (CDCBM9) CTNNA2 [HSA:1496] [KO:K05691] (CDCBM10) APC2 [HSA:10297] [KO:K02085] (CDCBM11) KIF26A [HSA:26153] [KO:K10404] (CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493] (CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413] (CDCBM14A/14B) ADGRG1 [HSA:9289] [KO:K08450] (CDCBM15) TUBGCP2 [HSA:10844] [KO:K16569] |
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| H01882 | アスペルガー症候群 | Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality ... | 精神及び行動の障害 |
NLGN3 [HSA:54413] [KO:K07378] NLGN4 [HSA:57502] [KO:K07378] |
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| H01883 | Nestor-Guillermo 早老症候群 | Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance ... | 先天性代謝異常症 | BANF1 [HSA:8815] [KO:K21870] | |
| H01884 | Auriculocondylar 症候群 | Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix ... | 先天奇形 |
(ARCND1) GNAI3 [HSA:2773] [KO:K04630] (ARCND2A/2B) PLCB4 [HSA:5332] [KO:K05858] (ARCND3/QME) EDN1 [HSA:1906] [KO:K16366] (ARCND4) HDAC9 [HSA:9734] [KO:K11409] |
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| H01885 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus 症候群 MPPH 症候群 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly ... | 先天奇形 |
(MPPH1) PIK3R2 [HSA:5296] [KO:K02649] (MPPH2) AKT3 [HSA:10000] [KO:K04456] (MPPH3) CCND2 [HSA:894] [KO:K10151] |
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| H01886 | Van den Ende-Gupta 症候群 | Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia ... | 先天奇形 | SCARF2 [HSA:91179] [KO:K24319] | |
| H01887 | 3MC 症候群 | 3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including ... | 先天奇形 |
(3MC1) MASP1 [HSA:5648] [KO:K03992] (3MC2) COLEC11 [HSA:78989] [KO:K10066] (3MC3) COLEC10 [HSA:10584] [KO:K10065] |
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| H01888 | カーペンター症候群 | Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur ... | 先天奇形 |
(CRPT1) RAB23 [HSA:51715] [KO:K06234] (CRPT2) MEGF8 [HSA:1954] [KO:K23664] |
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| H01889 |
Meier-Gorlin 症候群 耳-膝蓋-低身長症候群 |
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings ... | 先天奇形 |
(MGORS1) ORC1 [HSA:4998] [KO:K02603] (MGORS2) ORC4 [HSA:5000] [KO:K02606] (MGORS3) ORC6 [HSA:23594] [KO:K02608] (MGORS4) CDT1 [HSA:81620] [KO:K10727] (MGORS5) CDC6 [HSA:990] [KO:K02213] (MGORS6) GMNN [HSA:51053] [KO:K10749] (MGORS7) CDC45 [HSA:8318] [KO:K06628] (MGORS8) MCM5 [HSA:4174] [KO:K02209] |
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| H01890 | 模様黄斑ジストロフィー | Patterned macular dystrophy (MDPT) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition ... | 神経系疾患 |
(MDPT1) PRPH2 [HSA:5961] [KO:K17343] (MDPT2) CTNNA1 [HSA:1495] [KO:K05691] (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444] |
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| H01891 | 常染色体劣性遺伝性脊髄小脳失調症 | Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... | 神経変性疾患 |
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706] (SCAR2) PMPCA [HSA:23203] [KO:K01412] (SCAR4) VPS13D [HSA:55187] [KO:K19527] (SCAR7) TPP1 [HSA:1200] [KO:K01279] (SCAR8) SYNE1 [HSA:23345] [KO:K19326] (SCAR9) COQ8A [HSA:56997] [KO:K08869] (SCAR10) ANO10 [HSA:55129] [KO:K19327] (SCAR11) SYT14 [HSA:255928] [KO:K19328] (SCAR12) WWOX [HSA:51741] [KO:K19329] (SCAR13) GRM1 [HSA:2911] [KO:K04603] (SCAR14) SPTBN2 [HSA:6712] [KO:K23932] (SCAR15) RUBCN [HSA:9711] [KO:K19330] (SCAR16) STUB1 [HSA:10273] [KO:K09561] (SCAR17) CWF19L1 [HSA:55280] [KO:K24939] (SCAR18) GRID2 [HSA:2895] [KO:K05207] (SCAR19) SLC9A1 [HSA:6548] [KO:K05742] (SCAR20) SNX14 [HSA:57231] [KO:K17926] (SCAR21) SCYL1 [HSA:57410] [KO:K08876] (SCAR22) VWA3B [HSA:200403] [KO:K24509] (SCAR23) TDP2 [HSA:51567] [KO:K19619] (SCAR24) UBA5 [HSA:79876] [KO:K12164] (SCAR25) ATG5 [HSA:9474] [KO:K08339] (SCAR26) XRCC1 [HSA:7515] [KO:K10803] (SCAR27) GDAP2 [HSA:54834] [KO:K24997] (SCAR28) THG1L [HSA:54974] [KO:K10761] (SCAR29) VPS41 [HSA:27072] [KO:K20184] (SCAR30) PITRM1 [HSA:10531] [KO:K06972] (SCAR31) ATG7 [HSA:10533] [KO:K08337] (SCAR32) PRDX3 [HSA:10935] [KO:K20011] (SCAR33) RNU12 [HSA:267010] [KO:K28310] (SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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| H01892 | 末梢性T細胞リンパ腫 | Peripheral T cell lymphomas (PTCLs) are a group of rare lymphomas originating from mature (i.e., post-thymic or "peripheral") T lymphocytes and NK cells. With regard to the current WHO classification, ... | がん |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] TET2 (mutation) [HSA:54790] [KO:K24309] DNMT3A (mutation) [HSA:1788] [KO:K17398] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] |
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| H01893 | 側方髄膜瘤症候群 | Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft ... | 先天奇形 | NOTCH3 [HSA:4854] [KO:K20995] | |
| H01894 | 多発性ミトコンドリア機能障害症候群 | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... | 先天性代謝異常症, ミトコンドリア病 |
(MMDS1) NFU1 [HSA:27247] [KO:K22074] (MMDS2) BOLA3 [HSA:388962] [KO:K22075] (MMDS3) IBA57 [HSA:200205] [KO:K22073] (MMDS4) ISCA2 [HSA:122961] [KO:K22072] (MMDS5) ISCA1 [HSA:81689] [KO:K22063] (MMDS6) PMPCB [HSA:9512] [KO:K17732] (MMDS7) GCSH [HSA:2653] [KO:K02437] (MMDS9B) FDXR [HSA:2232] [KO:K18914] (MMDS10) CIAO1 [HSA:9391] [KO:K24730] |
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| 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] |
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| H01896 | 先天性皮膚欠損 | Aplasia cutis congenita (ACC) is a rare malformation characterized by localized congenital absence of the skin, mostly affecting the scalp vertex. It can occur in isolation or as part of a heterogeneous ... | 先天奇形 | BMS1 [HSA:9790] [KO:K14569] |