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 |
|---|---|---|---|---|---|
| H01144 | Ochrobactrum anthropi 感染 | Ochrobactrum anthropi is a ubiquitous oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream ... | 細菌感染症 | ||
| H01145 | 無トランスフェリン血症 | Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported | 循環器系疾患 | TF [HSA:7018] [KO:K14736] | |
| H01146 | アミノアシラーゼ1欠損症 | Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay ... | 先天性代謝異常症 | ACY1 [HSA:95] [KO:K14677] | |
| H01147 | Methylobacterium 感染 | Methylobacterium species are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both ... | 細菌感染症 | ||
| H01148 | Caulobacter 感染 | The genus Caulobacter is a gram-negative bacterium characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing ... | 細菌感染症 | ||
| H01149 | 角膜輪状類皮 | The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been ... | 新生物 | PITX2 [HSA:5308] [KO:K04686] | |
| H01150 | Phenylobacterium 感染 | Phenylobacterium is a gram-negative rod bacterium. The first case of cutaneous infectious granuloma caused by this bacterium was reported in 2010. | 細菌感染症 | ||
| H01151 | Brevundimonas 感染 | Brevundimonas species are aerobic non-fermenting gram-negative bacilli. They are infrequently isolated from clinical samples and can cause opportunistic infections in patients with underlying diseases | 細菌感染症 | ||
| H01152 | 無鉤条虫症 | Taenia saginata (beef tapeworm) infection, which causes chronic abdominal pain or persistent diarrhea, is caused by the ingestion of the larval stage of cysticerci in beef. T. saginata is distributed worldwide ... | 寄生虫感染症 | ||
| H01153 |
エキノコックス症 多包虫症 |
Human echinococcosis is a zoonosis caused by the larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, affecting an estimated 2-3 million people worldwide. Contamination ... | 寄生虫感染症 | ||
| H01154 |
早期興奮症候群 WPW 症候群 |
Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading ... | 循環器系疾患 | PRKAG2 [HSA:51422] [KO:K07200] | |
| H01155 | ルシー・レヴィー症候群 | Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis ... | 神経系疾患 |
MPZ [HSA:4359] [KO:K06770] PMP22 [HSA:5376] [KO:K19289] |
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| H01156 | STAR 症候群 | STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features ... | 先天奇形 | FAM58A [HSA:92002] [KO:K23964] | |
| H01157 | Agrobacterium radiobacter 感染 | Agrobacteria are small, gram-negative bacilli widely distributed in soil. They are best known for the phytopathogenicity, causing tumorigenic disease in plants. However, Agrobacterium spp. are also recognized ... | 細菌感染症 | ||
| H01158 | 全身性脱毛症 | Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are ... | 皮膚疾患 | HR [HSA:55806] [KO:K00478] | |
| H01159 | 前眼部形成異常 | Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest ... | 先天奇形 |
(ASGD1) PITX3 [HSA:5309] [KO:K09357] (ASGD2) FOXE3 [HSA:2301] [KO:K09398] (ASGD3) FOXC1 [HSA:2296] [KO:K09396] (ASGD4) PITX2 [HSA:5308] [KO:K04686] (ASGD5) PAX6 [HSA:5080] [KO:K08031] (ASGD6) CYP1B1 [HSA:1545] [KO:K07410] (ASGD7) PXDN [HSA:7837] [KO:K19511] (ASGD8) CPAMD8 [HSA:27151] [KO:K27774] |
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| H01160 | 裂脳症 | Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces ... | 先天奇形 |
SIX3 [HSA:6496] [KO:K19473] SHH [HSA:6469] [KO:K11988] EMX2 [HSA:2018] [KO:K09317] |
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| H01161 |
芳香族 L- アミノ酸脱炭酸酵素欠損症 AADC欠損症 |
Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia ... | 神経系疾患 | DDC [HSA:1644] [KO:K01593] | |
| H01162 |
スコット症候群 血小板型出血性疾患 7 (BDPLT7) |
Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane ... | 血液疾患 | ANO6 [HSA:196527] [KO:K19500] | |
| H01163 | 先天性 CBG 欠損症 | Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only ... | 内分泌代謝疾患 | SERPINA6 [HSA:866] [KO:K04525] | |
| H01164 | Paracoccus yeei 感染 | Paracoccus yeei, a gram-negative bacterium, has been identified as an unusual etiologic opportunistic agent in patients with cardiac transplant, automated peritoneal dialysis, or corneal graft. | 細菌感染症 | ||
| H01165 | Novosphingobium aromaticivorans 感染 | Novosphingobium aromaticivorans is a gram-negative aerobic bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of ... | 細菌感染症 | ||
| H01166 | Sphingomonas paucimobilis 感染 | Sphingomonas paucimobilis is a yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has been reported to cause nosocomial infections and is considered to originate ... | 細菌感染症 | ||
| H01167 | Granulibacter 感染 | Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, ... | 細菌感染症 |
CYBB (Chronic granulomatous disease) [HSA:1536] [KO:K21421] CYBA (Chronic granulomatous disease) [HSA:1535] [KO:K08009] NCF1 (Chronic granulomatous disease) [HSA:653361] [KO:K08011] |
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| H01168 | 海青組織球病 | Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes ... | 先天性代謝異常症 | APOE [HSA:348] [KO:K04524] | |
| H01169 | Acetobacter 感染 | Acetobacter belongs to the group of acetic acid bacteria that oxidize alcohols or sugars incompletely. A. cibinongensis is one of the members that is mainly found in tropical fruits and flowers. A case ... | 細菌感染症 | ||
| H01170 | シャルルヴォア・サグエ型痙性失調症 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS ... | 神経系疾患 | SACS [HSA:26278] [KO:K17592] | |
| H01171 | Poor drug metabolism | Many administered drugs are first activated by phase I drug-metabolizing enzymes, such as cytochrome P450 (CYP). There are some defective activity mutants due to CYP polymorphisms. In these cases, drugs ... | 先天性代謝異常症 |
CYP2C19 [HSA:1557] [KO:K17721] CYP2D6 [HSA:1565] [KO:K17712] |
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| H01172 | 乳児期発症上行性遺伝性痙性対麻痺 | Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic ... | 神経系疾患 | ALS2 [HSA:57679] [KO:K04575] | |
| H01173 | Stiff skin syndrome | Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant ... | 皮膚疾患 | FBN1 [HSA:2200] [KO:K06825] |