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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| H01114 | 眼組織欠損症 | Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal ... | 先天奇形 |
PAX6 [HSA:5080] [KO:K08031] SALL2 [HSA:6297] [KO:K19871] YAP1 [HSA:10413] [KO:K16687] |
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| H01115 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis ... | 神経変性疾患 | ABHD12 [HSA:26090] [KO:K13704] | |
| H01116 | 全脈絡膜萎縮症 | Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the ... | 神経系疾患 | CHM [HSA:1121] [KO:K23460] | |
| H01117 | 慢性再発性多発性骨髄炎 | Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital ... | 免疫系疾患 |
(CRMO1) LPIN2 [HSA:9663] [KO:K15728] (CRMO2) IL1RN [HSA:3557] [KO:K05481] (CRMO3) IL1R1 [HSA:3554] [KO:K04386] |
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| H01118 |
進行性外眼筋麻痺 常染色体優性遺伝性進行性外眼筋麻痺 |
Progressive external ophthalmoplegia (PEO) is a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia ... | 神経系疾患 |
(PEOA1) POLG [HSA:5428] [KO:K02332] (PEOA2) SLC25A4 [HSA:291] [KO:K05863] (PEOA3) TWNK [HSA:56652] [KO:K17680] (PEOA4) POLG2 [HSA:11232] [KO:K02333] (PEOA5) RRM2B [HSA:50484] [KO:K10808] (PEOA6) DNA2 [HSA:1763] [KO:K10742] |
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| H01119 | プロリダーゼ欠損症 | Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen ... | 先天性代謝異常症 | PEPD [HSA:5184] [KO:K14213] | |
| H01120 | Fowler 症候群 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting ... | 神経系疾患 | FLVCR2 [HSA:55640] [KO:K08220] | |
| H01121 | SCOT欠損症 | Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency ... | 先天性代謝異常症 | OXCT1 [HSA:5019] [KO:K01027] | |
| H01122 |
先天性肺胞蛋白症 肺サーファクタント代謝異常症 |
Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in ... | 呼吸器系疾患 |
(SMDP1) SFTPB [HSA:6439] [KO:K26067] (SMDP2) SFTPC [HSA:6440] [KO:K26068] (SMDP3) ABCA3 [HSA:21] [KO:K05643] (SMDP4) CSF2RA [HSA:1438] [KO:K05066] (SMDP5) CSF2RB [HSA:1439] [KO:K04738] |
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| H01123 | HMG-CoA合成酵素欠損症 | HMG-CoA synthase (HMGCS) deficiency is an autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial ... | 先天性代謝異常症, ミトコンドリア病 | HMGCS2 [HSA:3158] [KO:K01641] | |
| H01124 | PNPO 欠損症 | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with ... | 神経系疾患 | PNPO [HSA:55163] [KO:K00275] | |
| H01125 | 熱変形赤血球症 | Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation ... | 血液疾患 | SPTA1 [HSA:6708] [KO:K27408] | |
| H01126 | 腎性糖尿 | Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any ... | 先天性代謝異常症 | SLC5A2 [HSA:6524] [KO:K14382] | |
| H01127 | PIGM 先天性グリコシル化異常症 | PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this ... | 先天性代謝異常症 | PIGM [HSA:93183] [KO:K05284] | |
| H01128 | 細網異形成症 | Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and is characterized ... | 免疫系疾患 | AK2 [HSA:204] [KO:K00939] | |
| H01129 | ブロディーミオパチー | Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium ... | 神経系疾患; 筋骨格疾患 | ATP2A1 [HSA:487] [KO:K05853] | |
| H01130 | 遅発性網膜変性 | Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the ... | 神経系疾患 | C1QTNF5 [HSA:114902] [KO:K24212] | |
| H01131 | 遺伝性神経痛性筋萎縮症 | Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory ... | 神経系疾患 | SEPT9 [HSA:10801] [KO:K16938] | |
| H01132 | 再生不良性貧血 | Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence ... | 血液疾患 |
TERC [HSA:7012] [KO:K22183] TERT [HSA:7015] [KO:K11126] IFNG [HSA:3458] [KO:K04687] PRF1 [HSA:5551] [KO:K07818] SBDS [HSA:51119] [KO:K14574] NBN [HSA:4683] [KO:K10867] |
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| H01133 | Reynolds 症候群 | Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies ... | 免疫系疾患 | LBR [HSA:3930] [KO:K19532] | |
| H01134 | Rhabdoid predisposition syndrome | Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally ... | がん |
(RTPS1) SMARCB1 [HSA:6598] [KO:K11648] (RTPS2) SMARCA4 [HSA:6597] [KO:K11647] |
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| H01135 | リボース 5-リン酸イソメラーゼ欠損症 | Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral ... | 先天性代謝異常症 | RPIA [HSA:22934] [KO:K01807] | |
| H01136 | カルボキシペプチダーゼN 欠損症 | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... | 免疫系疾患 | CPN1 [HSA:1369] [KO:K01292] | |
| H01137 | アライグマ回虫症 | Baylisascariasis is a parasitic infection caused by Baylisascaris procyonis, a large nematodes of the order Ascaridida. The full clinical spectrum of human baylisascariasis includes visceral larva migrans ... | 寄生虫感染症 | ||
| H01138 | ヒメノレピス条虫症 | Hymenolepiasis is an infection caused by two species of tapeworm, Hymenolepis nana and H. diminuta, that are common in tropical and subtropical climates. H. nana mostly causes human infections, the source ... | 寄生虫感染症 | ||
| H01139 | ヒト顆粒球アナプラズマ症 | Human granulocytic anaplasmosis (HGA), previously known as human granulocytic ehrlichiosis (HGE), is a tick-borne infection caused by Anaplasma phagocytophilum. It results in symptoms ranging from mild ... | 細菌感染症 | ||
| H01140 | 腺熱リケッチア症 | Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish ... | 細菌感染症 | ||
| H01141 | Human monocytic ehrlichiosis | Human monocytic ehrlichiosis is a tick-borne infectious disease caused by Ehrlichia chaffeensis that infects mononuclear phagocytic cells. The bacterium is maintained in nature involving many vertebrate ... | 細菌感染症 | ||
| H01142 | Ehrlichia ewingii 感染 | Human ehrlichiosis is a recently recognized tick-borne infection. Ehrlichia ewingii has been identified as a cause of human disease in addition to formerly known pathogenic Ehrlichia species. | 細菌感染症 | ||
| H01143 | ビタミンD依存性くる病 | Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent ... | 先天性代謝異常症 |
(VDDR1A) CYP27B1 [HSA:1594] [KO:K07438] (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419] (VDDR2A) VDR [HSA:7421] [KO:K08539] (VDDR3) CYP3A4 [HSA:1576] [KO:K17689] |