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 |
|---|---|---|---|---|---|
| H01174 | 先天性下痢症 | Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... | 消化器系疾患 |
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] [KO:K28457] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] (DIAR14) GRWD1 [HSA:83743] [KO:K14848] (DIAR15) MYO1A [HSA:4640] [KO:K10356] |
|
| H01175 | ブドウ球菌感染症 | Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus ... | 細菌感染症 | ||
| H01176 | 単純性尿路感染 | Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen ... | 細菌感染症 | ||
| H01177 | 乳児両側性線条体壊死 | Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement ... | 神経系疾患 |
NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
|
| H01178 | ハエ幼虫症 | Myiasis is a parasitic infestation of vital tissue of the skin and mucous membranes by dipterous larvae. Human myiasis is a rare clinic condition but more prevalent in humid tropical and subtropical regions ... | 寄生虫感染症 | ||
| H01179 | スナノミ症 | Tungiasis is a tropical ectoparasitosis caused by the permanent penetration of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring ... | 寄生虫感染症 | ||
| H01180 |
Sveinsson 網脈絡膜萎縮 らせん状乳頭周囲脈絡網膜変性 |
Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically ... | 神経系疾患 | TEAD1 [HSA:7003] [KO:K09448] | |
| H01181 | T-細胞免疫不全症先天性脱毛および爪ジストロフィー | T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively ... | 免疫系疾患 | FOXN1 [HSA:8456] [KO:K09407] | |
| H01182 | ビオチニダーゼ欠損症 | Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin ... | 先天性代謝異常症 | BTD [HSA:686] [KO:K01435] | |
| H01183 |
ビタミン B1 反応性巨赤芽球性貧血症 チアミン代謝異常症候群 1 |
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive ... | 先天性代謝異常症 | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01184 | 家族性認知症 | Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI/ ITM2B gene. Familial dementia is characterized by ... | 神経変性疾患 | ITM2B [HSA:9445] [KO:K18264] | |
| H01185 | 脳アミロイド血管症 | Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated ... | 神経変性疾患 |
CST3 [HSA:1471] [KO:K13899] APP [HSA:351] [KO:K04520] |
|
| H01186 | 甲状腺ホルモン代謝異常症 | Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic ... | 内分泌代謝疾患 |
(THMA1) SECISBP2 [HSA:79048] [KO:K19539] (THMA2) DIO1 [HSA:1733] [KO:K01562] |
|
| H01187 |
Tietz 症候群 白皮症・難聴症候群 |
Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene ... | 皮膚疾患 | MITF [HSA:4286] [KO:K09455] | |
| H01188 | Tn 症候群 | Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen ... | 血液疾患 | COSMC [HSA:29071] [KO:K09653] | |
| H01189 | トランスアルドラーゼ欠乏症 | Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes in the ... | 先天性代謝異常症 | TALDO1 [HSA:6888] [KO:K00616] | |
| H01190 | トランスコバラミン II 欠乏症 | Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase ... | 先天性代謝異常症 | TCN2 [HSA:6948] [KO:K14619] | |
| H01191 | 鼻茸を伴うアスピリン喘息 | Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger ... | 免疫系疾患 |
TBX21 [HSA:30009] [KO:K10166] PTGER2 [HSA:5732] [KO:K04259] |
|
| H01192 | リジルヒドロキシラーゼ3 欠損症 | Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues ... | 先天奇形 | PLOD3 [HSA:8985] [KO:K13646] | |
| H01193 | 家族性腫瘍状石灰化症 | Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings ... | 先天性代謝異常症 |
(HFTC1) GALNT3 [HSA:2591] [KO:K00710] (HFTC2) FGF23 [HSA:8074] [KO:K22428] (HFTC3) KL [HSA:9365] [KO:K14756] (NFTC) SAMD9 [HSA:54809] [KO:K23949] |
|
| H01194 | X連鎖性点状軟骨異形成症 | Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different ... | 先天奇形 |
(CDPX1) ARSL [HSA:415] [KO:K18222] (CDPX2) EBP [HSA:10682] [KO:K01824] |
|
| H01195 | VATER/VACTERL連合 | The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without ... | 先天奇形 |
PTEN [HSA:5728] [KO:K01110] HOXD13 [HSA:3239] [KO:K09298] (VACTERLX) ZIC3 [HSA:7547] [KO:K18487] (VCTERL) WBP11 [HSA:51729] [KO:K12866] |
|
| H01196 | 小球性低色素性貧血 | Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling ... | 血液疾患 |
(AHMIO1) SLC11A2 [HSA:4891] [KO:K21398] (AHMIO2) STEAP3 [HSA:55240] [KO:K10142] |
|
| H01197 | ジヒドロ葉酸還元酵素欠損症 | Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused ... | 先天性代謝異常症 | DHFR [HSA:1719] [KO:K00287] | |
| H01198 | 腎ファンコニー症候群 | Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal ... | 先天性代謝異常症 |
(FRTS1) GATM [HSA:2628] [KO:K00613] (FRTS2) SLC34A1 [HSA:6569] [KO:K14683] (FRTS3) EHHADH [HSA:1962] [KO:K07514] (FRTS4) HNF4A [HSA:3172] [KO:K07292] (FRTS5) NDUFAF6 [HSA:137682] [KO:K18163] |
|
| H01199 | 高アルファリポタンパク質血症 | Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary ... | 先天性代謝異常症 |
(HALP1) CETP [HSA:1071] [KO:K16835] (HALP2) APOC3 [HSA:345] [KO:K08759] |
|
| H01200 | 致死性乳児心臓脳筋症 | Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome ... | 先天性代謝異常症 |
(CEMCOX1) SCO2 [HSA:9997] [KO:K23755] (CEMCOX2) COX15 [HSA:1355] [KO:K02259] (CEMCOX3) COA5 [HSA:493753] [KO:K18178] (CEMCOX4) COA6 [HSA:388753] [KO:K18179] |
|
| H01201 | イェンセン症候群 | Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia ... | 先天性代謝異常症, ミトコンドリア病 | TIMM8A [HSA:1678] [KO:K17780] | |
| H01202 | 白内障 | Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can ... | 神経系疾患 |
(CTRCT1) GJA8 [HSA:2703] [KO:K07617] (CTRCT2) CRYGC [HSA:1420] [KO:K23483] (CTRCT3) CRYBB2 [HSA:1415] [KO:K23482] (CTRCT4) CRYGD [HSA:1421] [KO:K23483] (CTRCT5) HSF4 [HSA:3299] [KO:K09417] (CTRCT6) EPHA2 [HSA:1969] [KO:K05103] (CTRCT9) CRYAA [HSA:1409] [KO:K09541] (CTRCT10) CRYBA1 [HSA:1411] [KO:K23482] (CTRCT11) PITX3 [HSA:5309] [KO:K09357] (CTRCT12) BFSP2 [HSA:8419] [KO:K10379] (CTRCT13) GCNT2 [HSA:2651] [KO:K00742] (CTRCT14) GJA3 [HSA:2700] [KO:K07612] (CTRCT15) MIP [HSA:4284] [KO:K09863] (CTRCT16) CRYAB [HSA:1410] [KO:K09542] (CTRCT17) CRYBB1 [HSA:1414] [KO:K23482] (CTRCT18) FYCO1 [HSA:79443] [KO:K21954] (CTRCT19) LIM2 [HSA:3982] [KO:K24190] (CTRCT20) CRYGS [HSA:1427] [KO:K23483] (CTRCT21) MAF [HSA:4094] [KO:K09035] (CTRCT22) CRYBB3 [HSA:1417] [KO:K23482] (CTRCT23) CRYBA4 [HSA:1413] [KO:K23482] (CTRCT30) VIM [HSA:7431] [KO:K07606] (CTRCT31) CHMP4B [HSA:128866] [KO:K12194] (CTRCT33) BFSP1 [HSA:631] [KO:K10378] (CTRCT34) FOXE3 [HSA:2301] [KO:K09398] (CTRCT36) TDRD7 [HSA:23424] [KO:K18405] (CTRCT38) AGK [HSA:55750] [KO:K09881] (CTRCT39) CRYGB [HSA:1419] [KO:K23483] (CTRCT40) NHS [HSA:4810] [KO:K24144] (CTRCT41) WFS1 [HSA:7466] [KO:K14020] (CTRCT42) CRYBA2 [HSA:1412] [KO:K23482] (CTRCT43) UNC45B [HSA:146862] [KO:K21991] (CTRCT44) LSS [HSA:4047] [KO:K01852] (CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703] (CTRCT46) LEMD2 [HSA:221496] [KO:K24080] (CTRCT47) SLC16A12 [HSA:387700] [KO:K11810] (CTRCT48) DNMBP [HSA:23268] [KO:K20705] (CTRCT49) PANK4 [HSA:55229] [KO:K24265] (CTRCT50) TRPM3 [HSA:80036] [KO:K04978] |
|
| H01203 |
先天性緑内障 緑内障 3 型 |
Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features ... | 先天奇形 |
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |