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 |
|---|---|---|---|---|---|
| H01294 | 抗利尿不適合性腎症候群 | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption ... | 内分泌代謝疾患 | AVPR2 [HSA:554] [KO:K04228] | |
| H01295 | 脳葉酸輸送不全による神経変性 | Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances ... | 神経変性疾患 | FOLR1 [HSA:2348] [KO:K13649] | |
| H01296 | 圧迫麻痺性遺伝性ニューロパチー (HNPP) | Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative ... | 神経系疾患 | PMP22 [HSA:5376] [KO:K19289] | |
| H01297 | ミオパシーを伴う中性脂質蓄積症 | Neutral lipid storage disease with myopathy (NLSDM) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral ... | 先天性代謝異常症 | PNPLA2 [HSA:57104] [KO:K16816] | |
| H01298 | 肺胞微石症 | Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases ... | 呼吸器系疾患 | SLC34A2 [HSA:10568] [KO:K14683] | |
| H01299 | 特発性肺線維症 | Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase ... | 呼吸器系疾患 |
(PFBMFT1) TERT [HSA:7015] [KO:K11126] (PFBMFT2) TERC [HSA:7012] [KO:K22183] (ILD1) SFTPA1 [HSA:653509] [KO:K10067] (ILD2) SFTPA2 [HSA:729238] [KO:K10067] (ILD2) MUC5B [HSA:727897] [KO:K13908] SFTPC [HSA:6440] [KO:K26068] |
|
| H01301 | 出血性脳疾患・上衣下石灰化および白内障 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation ... | 神経系疾患 | JAM3 [HSA:83700] [KO:K06785] | |
| H01302 | Hyperchlorhidrosis isolated | Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis ... | 先天性代謝異常症 | CA12 [HSA:771] [KO:K01672] | |
| H01303 |
異化亢進性低タンパク血症 免疫不全 43 |
Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin ... | 血液疾患 | B2M [HSA:567] [KO:K08055] | |
| H01304 | 高グリシン尿症 | Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. | 泌尿器系疾患 |
SLC6A20 [HSA:54716] [KO:K05048] SLC6A19 [HSA:340024] [KO:K05334] SLC36A2 [HSA:153201] [KO:K14209] |
|
| H01305 |
脳のミエリン形成不全 早期乳児てんかん性脳症 39 |
Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this ... | 先天性代謝異常症, ミトコンドリア病 | SLC25A12 [HSA:8604] [KO:K15105] | |
| H01306 | FRA12A 精神遅滞 | FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of ... | 精神及び行動の障害 | DIP2B [HSA:57609] [KO:K24908] | |
| H01307 | 非症候性先天性爪疾患 | Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified ... | 皮膚疾患 |
(NDNC1) FZD6 [HSA:8323] [KO:K02376] (NDNC3) PLCD1 [HSA:5333] [KO:K05857] (NDNC4) RSPO4 [HSA:343637] [KO:K23099] (NDNC8) COL7A1 [HSA:1294] [KO:K16628] |
|
| H01308 | 巨大頭蓋巨人症および顔異形症候群 | Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome. | 先天奇形 | RNF135 [HSA:84282] [KO:K16272] | |
| H01309 | サルコイドーシス | Sarcoidosis is a multisystem disease characterized by granulomatous inflammation throughout the body afflicting different organ systems. Pulmonary complaints are most common, however, cardiac, optic, and ... | 免疫系疾患 | ||
| H01310 |
マルチミニコア病 脊椎硬直症候群 |
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined ... | 神経系疾患; 筋骨格疾患 |
SEPN1 [HSA:57190] [KO:K19874] RYR1 [HSA:6261] [KO:K04961] |
|
| H01311 | 腸管組織侵襲性大腸菌感染症 | Enteroinvasive Escherichia coli (EIEC) infection is common in developing countries and comparatively rare in developed countries. EIEC invades intestinal epithelial cells, causing necrosis, ulceration ... | 細菌感染症 | ||
| H01312 | 腸管凝集性大腸菌感染症 | Enteroaggregative Escherichia coli (EAEC or EAggEC) infection is a cause of traveler's diarrhea and persistent watery diarrhea in young children and patients infected with HIV. EAEC adheres to the small ... | 細菌感染症 | ||
| H01313 |
大腸菌性髄膜炎 新生児髄膜炎起因大腸菌感染症 |
Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia ... | 細菌感染症 | ||
| H01314 |
鼠咬症 そこう症 ヘーヴァヒル熱 |
Rat-bite fever is a systemic febrile zoonotic illness caused by either Streptobacillus moniliformis, common in Western countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is ... | 細菌感染症 | ||
| H01315 |
類丹毒 豚丹毒 |
Erysipelothrix rhusiopathiae is a non-sporulating, gram-positive, rod-shaped bacterium which was identified as the etiologic agent of swine erysipelas. Infection in man is occupationally related, occurring ... | 細菌感染症 | ||
| H01316 |
皮膚糸状菌症 白癬 |
Dermatophytosis (tinea, ringworm) is an infection of keratinized structures, such as the hair, skin or nails caused by dermatophyte fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea ... | 真菌感染症 | ||
| H01317 | 侵襲性歯周炎 | Aggressive periodontitis is a disease of the periodontium occurring in an otherwise healthy adolescent, which is characterized by a rapid loss of alveolar bone around more than one tooth of the permanent ... | 細菌感染症 | ||
| H01318 |
フランベジア いちご腫 |
Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Yaws is ... | 細菌感染症 | ||
| H01319 |
コクシジオイデス症 渓谷熱 |
Coccidioides immitis and C. posadasii are two endemic dimorphic fungal pathogens that cause coccidioidomycosis, also called valley fever, and are found in the southwestern United States and northern Mexico ... | 真菌感染症 | ||
| H01320 | 流行性角結膜炎 | Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: ... | ウイルス感染症 | ||
| H01321 | 肺炎球菌感染症 | Pneumococcal disease (PD) is infectious disease caused by Streptococcus pneumoniae (pneumococcus). PD is particularly common in younger children and in older adults and is roughly divided into invasive ... | 細菌感染症 | ||
| H01322 | キャサヌル森林病 | Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease virus (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV ... | ウイルス感染症 | ||
| H01323 |
ノロウイルス性腸炎 ノロウイルス性胃腸炎 流行性嘔吐症 |
Enteritis due to Norovirus is a major nonbacterial gastroenteritis worldwide. Norovirus is one of five genera of the family Caliciviridae of +ssRNA viruses. Human norovirus, previously known as Norwalk ... | ウイルス感染症 | ||
| H01324 | リンパ球性脈絡髄膜炎 | Lymphocytic choriomeningitis (LCM) is an infectious disease caused by Lymphocytic choriomeningitis virus (LCMV), an arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. ... | ウイルス感染症 |