KEGG MEDICUS 疾患情報 |
Top |
| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H00873 |
Cousin 症候群 肩甲骨骨盤異形成 |
Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial ... | 先天奇形 | TBX15 [HSA:6913] [KO:K10182] | |
| H00874 |
ジストニアと運動神経障害を伴う白質脳症 ステロールキャリアプロテイン 2 欠損症 |
Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown ... | 先天性代謝異常症, ペルオキシソーム病 | SCP2 [HSA:6342] [KO:K08764] | |
| H00875 | 皮質下嚢胞をもつ大頭型白質脳症 | Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline ... | 神経系疾患 |
(MLC1) MLC1 [HSA:23209] [KO:K20070] (MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116] (MLC3) GPRC5B [HSA:51704] [KO:K04619] (MLC4) AQP4 [HSA:361] [KO:K09866] |
|
| H00876 | ミスマッチ修復異常 | Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic ... | がん |
(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734] (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735] (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737] (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] |
|
| H00877 | 脳小血管病 | Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset ... | 循環器系疾患 |
(BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2A/2B) COL4A2 [HSA:1284] [KO:K06237] (BSVD3) COLGALT1 [HSA:79709] [KO:K11703] (BSVD4) NIT1 [HSA:4817] [KO:K11206] (BSVD5) ARGEF15 [HSA:22899] [KO:K20687] (BSVD6) CTSA [HSA:5476] [KO:K13289] |
|
| H00878 | Cystic leukoencephalopathy without megalencephaly | Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with ... | 先天性代謝異常症 | RNASET2 [HSA:8635] [KO:K01166] | |
| H00879 | ペリー症候群 | Perry syndrome is a rapidly progressive, autosomal dominant, neurodegenerative disorder. The cardinal symptoms consist of parkinsonism, depression, severe weight loss and hypoventilation. At a molecular ... | 神経変性疾患 | DCTN1 [HSA:1639] [KO:K04648] | |
| H00880 | 遺伝性対側性色素異常症 | Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It presents in infancy or early childhood as a mixture of hyperpigmented and hypopigmented ... | 皮膚疾患 | ADAR [HSA:103] [KO:K12968] | |
| H00881 | リー・フラウメニ症候群 | Li-Fraumeni syndrome (LFS) is a familial clustering of early onset tumors including sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (ADR). Initially considered as a rare syndrome, ... | 新生物 |
(LFS) TP53 [HSA:7157] [KO:K04451] (LFS2) CHEK2 [HSA:11200] [KO:K06641] |
|
| H00882 | 胎児繭状症候群 | Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound ... | 先天奇形 | CHUK [HSA:1147] [KO:K04467] | |
| H00883 |
類脂質蛋白症 遺伝性ヒアリン皮膚粘膜蓄積症 |
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and ... | 先天奇形 | ECM1 [HSA:1893] [KO:K23867] | |
| H00884 | 家族性進行性色素増加症 | Familial progressive hyperpigmentation is a dominantly inherited genodermatosis, in which patches of hyperpigmentation in the skin are present at birth. Increased number and average size of melanin granules ... | 皮膚疾患 | KITLG [HSA:4254] [KO:K05461] | |
| H00885 |
色素失調症 伊藤白斑 |
Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system ... | 皮膚疾患 | chromosomal mosaicism | |
| H00886 | Donnai-Barrow 症候群 | Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial ... | 先天奇形 | LRP2 [HSA:4036] [KO:K06233] | |
| H00887 | リポ蛋白糸球体症 | Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually ... | 先天性代謝異常症 | APOE [HSA:348] [KO:K04524] | |
| H00888 | 低リン酸血症に関係する腎結石症と骨粗鬆症 | Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired ... | 泌尿器系疾患 |
(NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683] (NPHLOP2) NHERF1 [HSA:9368] [KO:K13365] |
|
| H00889 |
Lujan-Fryns 症候群 マルファン体型を伴う X連鎖性精神遅滞 |
Lujan-Fryns syndrome (LFS) is an X-linked mental retardation (XLMR) syndrome, caused by mutations in the MED12 gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow ... | 先天奇形 | MED12 [HSA:9968] [KO:K15162] | |
| H00890 | 無精子症 | Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia ... | 生殖器系疾患 |
(SPGFY2) USP9Y [HSA:8287] [KO:K11840] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (OAZON) CLDN2 [HSA:9075] [KO:K06087] |
|
| H00891 | 複合型酸化的リン酸化異常 | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... | 先天性代謝異常症, ミトコンドリア病 |
(COXPD1) GFM1 [HSA:85476] [KO:K02355] (COXPD2) MRPS16 [HSA:51021] [KO:K02959] (COXPD3) TSFM [HSA:10102] [KO:K02357] (COXPD4) TUFM [HSA:7284] [KO:K02358] (COXPD5) MRPS22 [HSA:56945] [KO:K17401] (COXPD6) AIFM1 [HSA:9131] [KO:K04727] (COXPD7) MTRFR [HSA:91574] [KO:K23498] (COXPD8) AARS2 [HSA:57505] [KO:K01872] (COXPD9) MRPL3 [HSA:11222] [KO:K02906] (COXPD10) MTO1 [HSA:25821] [KO:K03495] (COXPD11) RMND1 [HSA:55005] [KO:K23499] (COXPD12) EARS2 [HSA:124454] [KO:K01885] (COXPD13) PNPT1 [HSA:87178] [KO:K00962] (COXPD14) FARS2 [HSA:10667] [KO:K01889] (COXPD15) MTFMT [HSA:123263] [KO:K00604] (COXPD16) MRPL44 [HSA:65080] [KO:K17425] (COXPD17) ELAC2 [HSA:60528] [KO:K00784] (COXPD18) SFXN4 [HSA:119559] [KO:K23502] (COXPD19) LYRM4 [HSA:57128] [KO:K22069] (COXPD20) VARS2 [HSA:57176] [KO:K01873] (COXPD21) TARS2 [HSA:80222] [KO:K01868] (COXPD22) ATP5F1A [HSA:498] [KO:K02132] (COXPD23) GTPBP3 [HSA:84705] [KO:K03650] (COXPD24) NARS2 [HSA:79731] [KO:K01893] (COXPD25) MARS2 [HSA:92935] [KO:K01874] (COXPD26) TRMT5 [HSA:57570] [KO:K15429] (COXPD27) CARS2 [HSA:79587] [KO:K01883] (COXPD28) SLC25A26 [HSA:115286] [KO:K15111] (COXPD29) TXN2 [HSA:25828] [KO:K03671] (COXPD30) TRMT10C [HSA:54931] [KO:K17654] (COXPD31) MIPEP [HSA:4285] [KO:K01410] (COXPD32) MRPS34 [HSA:65993] [KO:K17412] (COXPD33) C1QBP [HSA:708] [KO:K15414] (COXPD34) MRPS7 [HSA:51081] [KO:K02992] (COXPD35) TRIT1 [HSA:54802] [KO:K00791] (COXPD36) MRPS2 [HSA:51116] [KO:K02967] (COXPD37) MICOS13 [HSA:125988] [KO:K24624] (COXPD38) MRPS14 [HSA:63931] [KO:K02954] (COXPD39) GFM2 [HSA:84340] [KO:K02355] (COXPD40) QRSL1 [HSA:55278] [KO:K02433] (COXPD41) GATB [HSA:5188] [KO:K02434] (COXPD42) GATC [HSA:283459] [KO:K02435] (COXPD43) TIMM22 [HSA:29928] [KO:K17790] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (COXPD45) MRPL12 [HSA:6182] [KO:K02935] (COXPD46) MRPS23 [HSA:51649] [KO:K17402] (COXPD47) MRPS28 [HSA:28957] [KO:K17407] (COXPD48) NSUN3 [HSA:63899] [KO:K21969] (COXPD49) MIEF2 [HSA:125170] [KO:K23507] (COXPD50) MRPS25 [HSA:64432] [KO:K17404] (COXPD51) PTCD3 [HSA:55037] [KO:K17659] (COXPD52) NFS1 [HSA:9054] [KO:K04487] (COXPD53) C2orf69 [HSA:205327] [KO:K28271] (COXPD54) PRORP [HSA:9692] [KO:K17655] (COXPD55) POLRMT [HSA:5442] [KO:K10908] (COXPD56) TAMM41 [HSA:132001] [KO:K17807] (COXPD57) CRLS1 [HSA:54675] [KO:K08744] (COXPD58) TEFM [HSA:79736] [KO:K17658] (COXPD59) MRPL39 [HSA:54148] [KO:K17420] (COXPD60) MRPL49 [HSA:740] [KO:K17430] |
|
| H00892 | 気管支拡張症 | Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown ... | 呼吸器系疾患 |
(BESC1) SCNN1B [HSA:6338] [KO:K04825] (BESC2) SCNN1A [HSA:6337] [KO:K04824] (BESC3) SCNN1G [HSA:6340] [KO:K04827] |
|
| H00893 | 羊毛状毛髪と角皮症および歯の無形成を伴う拡張型心筋症 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) is a recently reported autosomal dominant phenotype of Carvajal syndrome [DS:H02094] associated with leukonychia and oligodontia | 先天奇形 | DSP [HSA:1832] [KO:K10381] | |
| H00894 | FG 症候群 | FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity ... | 先天奇形 |
(FGS1) MED12 [HSA:9968] [KO:K15162] (FGS2) FLNA [HSA:2316] [KO:K04437] (FGS4) CASK [HSA:8573] [KO:K06103] |
|
| H00895 | 基底細胞母斑症候群 | Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic ... | 先天奇形 |
(BCNS1) PTCH1 [HSA:5727] [KO:K06225] (BCNS2) SUFU [HSA:51684] [KO:K06229] |
|
| H00896 | リンパ脈管筋腫症 | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of ... | 呼吸器系疾患 |
TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
|
| H00897 | 橋小脳低形成 | Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... | 先天奇形 |
(PCH1A) VRK1 [HSA:7443] [KO:K08816] (PCH1B) EXOSC3 [HSA:51010] [KO:K03681] (PCH1C) EXOSC8 [HSA:11340] [KO:K12586] (PCH1D) EXOSC9 [HSA:5393] [KO:K03678] (PCH1E) SLC25A46 [HSA:91137] [KO:K03454] (PCH1F) EXOSC1 [HSA:51013] [KO:K07573] (PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326] (PCH2B) TSEN2 [HSA:80746] [KO:K15322] (PCH2C) TSEN34 [HSA:79042] [KO:K15323] (PCH2D) SEPSECS [HSA:51091] [KO:K03341] (PCH2E) VPS53 [HSA:55275] [KO:K20299] (PCH2F) TSEN15 [HSA:116461] [KO:K15324] (PCH3) PCLO [HSA:27445] [KO:K16882] (PCH6) RARS2 [HSA:57038] [KO:K01887] (PCH7) TOE1 [HSA:114034] [KO:K13202] (PCH8) CHMP1A [HSA:5119] [KO:K12197] (PCH9) AMPD2 [HSA:271] [KO:K01490] (PCH10) CLP1 [HSA:10978] [KO:K14399] (PCH11) TBC1D23 [HSA:55773] [KO:K22555] (PCH12) COASY [HSA:80347] [KO:K02318] (PCH13) VPS51 [HSA:738] [KO:K20296] (PCH14) PPIL1 [HSA:51645] [KO:K12733] (PCH15) CDC40 [HSA:51362] [KO:K12816] (PCH16) MINPP1 [HSA:9562] [KO:K03103] (PCH17) PRDM13 [HSA:59336] [KO:K24645] |
|
| H00898 | ミトコンドリアミオパチー及び鉄芽球性貧血 | Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. MLASA has been associated with ... | 先天性代謝異常症 |
(MLASA1) PUS1 [HSA:80324] [KO:K06173] (MLASA2) YARS2 [HSA:51067] [KO:K01866] |
|
| H00899 | リジン尿性蛋白不耐症 | Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by ... | 先天性代謝異常症 | SLC7A7 [HSA:9056] [KO:K13867] | |
| H00900 | Geleophysic dysplasia | Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, ... | 先天奇形 |
(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430] (GPHYSD2) FBN1 [HSA:2200] [KO:K06825] (GPHYSD3) LTBP3 [HSA:4054] [KO:K08023] |
|
| H00901 | シスチン尿症 | Cystinuria is an inherited disorder of re-absorptive transport of cystine and the dibasic amino acids ornithine, arginine and lysine in the proximal tubule and small intestine. Diagnostically, urinary ... | 先天性代謝異常症 |
SLC3A1 [HSA:6519] [KO:K14210] SLC7A9 [HSA:11136] [KO:K13868] |
|
| H00902 | 言語障害 | Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized ... | 精神及び行動の障害 | FOXP2 [HSA:93986] [KO:K09409] |