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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| H01385 | Rienhoff 症候群 | Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease ... | 先天奇形 | TGFB3 [HSA:7043] [KO:K13377] | |
| H01386 | アスパラギン合成酵素欠損症 | Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive ... | 先天性代謝異常症 | ASNS [HSA:440] [KO:K01953] | |
| H01387 | 活性化 PI3K-delta 症候群 | Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells ... | 免疫系疾患 |
(APDS/IMD14) PIK3CD [HSA:5293] [KO:K00922] (APDS2/IMD36) PIK3R1 [HSA:5295] [KO:K02649] |
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| H01388 |
高プロラクチン血症 下垂体性 PRL 分泌亢進症 |
Hyperprolactinemia (HPRL) unrelated to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological ... | 内分泌代謝疾患 | PRLR [HSA:5618] [KO:K05081] | |
| H01389 | アルパーズ症候群 | Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized ... | 先天性代謝異常症, ミトコンドリア病 | POLG [HSA:5428] [KO:K02332] | |
| H01390 |
ミトコンドリア神経性胃腸管系脳筋症 MNGIE 症候群 |
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine ... | 先天性代謝異常症, ミトコンドリア病 |
TYMP [HSA:1890] [KO:K00758] RRM2B [HSA:50484] [KO:K10808] POLG [HSA:5428] [KO:K02332] LIG3 [HSA:3980] [KO:K10776] |
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| H01391 | 家族性エピソード性疼痛症候群 | Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions ... | 筋骨格疾患 |
(FEPS1) TRPA1 [HSA:8989] [KO:K04984] (FEPS2) SCN10A [HSA:6336] [KO:K04842] (FEPS3) SCN11A [HSA:11280] [KO:K04843] |
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| H01392 | 関節拘縮・精神遅滞・てんかん | Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated ... | 先天奇形 | SLC35A3 [HSA:23443] [KO:K15272] | |
| H01393 | Van Maldergem 症候群 | Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity ... | 先天奇形 |
(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669] |
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| H01394 | Cole disease | Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over ... | 先天奇形 | ENPP1 [HSA:5167] [KO:K01513] | |
| H01395 | 常染色体劣性遺伝性進行性外眼筋麻痺 | Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations ... | 神経系疾患 |
(PEOB1) POLG [HSA:5428] [KO:K02332] (PEOB2) RNASEH1 [HSA:246243] [KO:K03469] (PEOB3) TK2 [HSA:7084] [KO:K00857] (PEOB4) DGUOK [HSA:1716] [KO:K00904] (PEOB5) TOP3A [HSA:7156] [KO:K03165] (PEOB6) RRM1 [HSA:6240] [KO:K10807] |
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| H01396 | もやもや病 | Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory ... | 循環器系疾患 |
(MYMY2) RNF213 [HSA:57674] [KO:K22754] (MYMY5) ACTA2 [HSA:59] [KO:K12313] (MYMY6) GUCY1A3 [HSA:2982] [KO:K12318] (MYMY7) ANO1 [HSA:55107] [KO:K19496] (MYMY8) NOS3 [HSA:4846] [KO:K13242] |
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| H01397 | マダニ媒介性リンパ節炎 | Rickettsia species are arthropod-associated intracellular bacteria and cause diseases in human such as Tick-borne lymphadenopathy, Typhus fever and Spotted fever. Rickettsia slovaca has been isolated from ... | 細菌感染症 | ||
| H01398 |
尿素サイクル異常症 原発性高アンモニア血症 |
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... | 先天性代謝異常症 |
NAGS [HSA:162417] [KO:K11067] CPS1 [HSA:1373] [KO:K01948] OTC [HSA:5009] [KO:K00611] ASS1 [HSA:445] [KO:K01940] ASL [HSA:435] [KO:K01755] ARG1 [HSA:383] [KO:K01476] SLC25A15 [HSA:10166] [KO:K15101] SLC25A13 [HSA:10165] [KO:K15105] |
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| H01399 | Bacillus thuringiensis 感染 | Bacillus thuringiensis is a close taxonomic relative of Bacillus cereus and an insect pathogen that is widely used as a biopesticide. Additionally, this bacterium is known to induce myonecrosis in immunosuppressed ... | 細菌感染症 | ||
| H01400 | 二次性高アンモニア血症 | Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... | 先天性代謝異常症 |
MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915] |
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| H01401 | メチシリン耐性表皮ブドウ球菌感染症 | The genus Staphylococcus known as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in ... | 細菌感染症 | ||
| H01402 | ニコライデス・ バライスター症候群 | Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause ... | 先天奇形 | SMARCA2 [HSA:6595] [KO:K11647] | |
| H01403 | コフィン・シリス症候群 | Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth ... | 先天奇形 |
(CSS1) ARID1B [HSA:57492] [KO:K11653] (CSS2) ARID1A [HSA:8289] [KO:K11653] (CSS3) SMARCB1 [HSA:6598] [KO:K11648] (CSS4) SMARCA4 [HSA:6597] [KO:K11647] (CSS5) SMARCE1 [HSA:6605] [KO:K11651] (CSS6) ARID2 [HSA:196528] [KO:K11765] (CSS7) DPF2 [HSA:5977] [KO:K13196] (CSS8) SMARCC2 [HSA:6601] [KO:K11649] (CSS9) SOX11 [HSA:6664] [KO:K09268] (CSS10) SOX4 [HSA:6659] [KO:K23581] (CSS11) SMARCD1 [HSA:6602] [KO:K11650] (CSS12) BICRA [HSA:29998] [KO:K25612] |
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| H01404 | 点状掌蹠角化症 | Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified ... | 先天奇形 | (PPKP1A) AAGAB [HSA:79719] [KO:K23878] | |
| H01405 | Lactococcus garvieae 感染 | Lactococcus garvieae, catalase-negative, facultative anaerobic cocci, is a major pathogen of fish and causes fatal hemorrhagic septicemia in fish such as yellowtail and trout, and it has also been isolated ... | 細菌感染症 | ||
| H01406 | Streptococcus suis 感染 | Streptococcus suis, a Gram positive coccus, is a zoonotic pathogen that infects pigs and can occasionally cause serious infections in humans. The first case in humans was reported in Denmark in 1968. Human ... | 細菌感染症 | ||
| H01407 | Capnocytophaga ochracea 感染 | Capnocytophaga ochracea is a Gram-negative bacterium, capnophilic (CO2-requiring) organism, originally isolated from a human oral cavity. C. ochracea is a normal inhabitant of the human mouth and other ... | 細菌感染症 | ||
| H01408 |
歯周疾患 歯周病 |
During the early stages of the periodontal disease, saccharolytic, aerobic Streptococcus spp. and other bacteria adhere to and colonize the tooth enamel and root surface. This sets the stage for Fusobacterium ... | 細菌感染症 | ||
| H01409 | メチシリン感受性黄色ブドウ球菌感染症 | Staphylococcus aureus is a Gram-positive human commensal bacterium persistently colonizing the anterior nares of about 30% of the human population. Methicillin-resistant S. aureus (MRSA) is known to have ... | 細菌感染症 | hsa05150 Staphylococcus aureus infection | |
| H01410 | 嫌気性菌感染症 | Anaerobic infections are common and some are serious with a high mortality rate. The clinically important anaerobes are several genera of Gram-negative rods (Bacteroides, Prevotella, Porphyromonas, Fusobacterium ... | 細菌感染症 | ||
| H01411 | Saccharomonospora viridis 感染 | Saccharomonospora viridis is the type species of the genus Saccharomonospora which belongs to the family Pseudonocardiaceae. Members of the species are frequently found in hot compost and hay, and its ... | 細菌感染症 | ||
| H01412 | パールマン症候群 | Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis ... | 先天奇形 | DIS3L2 [HSA:129563] [KO:K18758] | |
| H01413 | アダムズ・オリバー症候群 | Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 ... | 先天奇形 |
(AOS1) ARHGAP31 [HSA:57514] [KO:K20646] (AOS2) DOCK6 [HSA:57572] [KO:K21852] (AOS3) RBPJ [HSA:3516] [KO:K06053] (AOS4) EOGT [HSA:285203] [KO:K18134] (AOS5) NOTCH1 [HSA:4851] [KO:K02599] (AOS6) DLL4 [HSA:54567] [KO:K06051] |
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| H01414 | Hafnia alvei 感染 | The genus Hafnia, a member of the family Enterobacteriaceae, is occasionally implicated in both intestinal and extraintestinal infections in humans. Hafnia alvei is a facultative anaerobic opportunistic ... | 細菌感染症 |