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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| H01204 | 小脳失調・精神遅滞および平衡障害症候群 (CAMRQ) | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients ... | 神経系疾患 |
(CAMRQ1) VLDLR [HSA:7436] [KO:K20053] (CAMRQ2) WDR81 [HSA:124997] [KO:K17601] (CAMRQ3) CA8 [HSA:767] [KO:K01672] (CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802] |
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| H01205 | ワルファリンレジスタンス | Warfarin is widely prescribed anticoagulant for the prevention of thromboembolic diseases. However, its use is made difficult by the wide interindividual variation in dose required to achieve a therapeutic ... | 先天性代謝異常症 |
VKORC1 [HSA:79001] [KO:K05357] CYP2A6 [HSA:1548] [KO:K17683] CYP2C9 [HSA:1559] [KO:K17719] GGCX [HSA:2677] [KO:K10106] |
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| H01206 | プラスミノーゲン欠損症 | Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane ... | 血液疾患 | PLG [HSA:5340] [KO:K01315] | |
| H01207 | 三角頭蓋症 | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly | 先天奇形 |
(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362] (TRIGNO2) FREM1 [HSA:158326] [KO:K23380] |
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| H01208 | 頭部円形精子症 | Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding ... | 生殖器系疾患 |
(SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] |
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| H01209 | 遺伝性難聴 (X連鎖) | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | 神経系疾患 |
(DFNX1) PRPS1 [HSA:5631] [KO:K00948] (DFNX2) POU3F4 [HSA:5456] [KO:K09365] (DFNX4) SMPX [HSA:23676] [KO:K24209] (DFNX5) AIFM1 [HSA:9131] [KO:K04727] (DFNX6) COL4A6 [HSA:1288] [KO:K06237] (DFNX7) GPRASP2 [HSA:114928] [KO:K26197] |
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| H01210 | 低マグネシウム血症 | Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution ... | 先天性代謝異常症 |
(HOMG1) TRPM6 [HSA:140803] [KO:K04981] (HOMG2) FXYD2 [HSA:486] [KO:K01538] (HOMG3) CLDN16 [HSA:10686] [KO:K06087] (HOMG4) EGF [HSA:1950] [KO:K04357] (HOMG5) CLDN19 [HSA:149461] [KO:K06087] (HOMG6/HOMGSMR1) CNNM2 [HSA:54805] [KO:K16302] (HOMG7) RRAGD [HSA:58528] [KO:K16186] (HOMGSMR2) ATP1A1 [HSA:476] [KO:K01539] |
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| H01211 | 重症新生児脳症 | MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often ... | 先天奇形 | MECP2 [HSA:4204] [KO:K11588] | |
| H01212 | ニューロセルピン封入体を持つ家族性脳症 | Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive ... | 神経変性疾患 | SERPINI1 [HSA:5274] [KO:K23412] | |
| H01213 | 胆のう疾患 | Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis ... | 消化器系疾患 |
(GBD1) ABCB4 [HSA:5244] [KO:K05659] (GBD4) ABCG8 [HSA:64241] [KO:K05684] |
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| H01214 | Rh欠損症候群 | Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein ... | 血液疾患 | RHAG [HSA:6005] [KO:K06580] | |
| H01215 | Simpson-Golabi-Behmel 症候群 | Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk ... | 先天奇形 |
(SGBS1) GPC3 [HSA:2719] [KO:K08109] (SGBS2) OFD1 [HSA:8481] [KO:K16480] |
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| H01216 | 左室緻密化障害 | Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive ... | 循環器系疾患 |
(LVNC1) DTNA [HSA:1837] [KO:K26998] (LVNC3) LDB3 [HSA:11155] [KO:K19867] (LVNC4) ACTC1 [HSA:70] [KO:K12314] (LVNC5) MYH7 [HSA:4625] [KO:K17751] (LVNC6) TNNT2 [HSA:7139] [KO:K12045] (LVNC7) MIB1 [HSA:57534] [KO:K10645] (LVNC8) PRDM16 [HSA:63976] [KO:K22410] (LVNC9) TPM1 [HSA:7168] [KO:K10373] (LVNC10) MYBPC3 [HSA:4607] [KO:K12568] |
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| H01217 | 原発性限局性皮膚アミロイド症 | Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ... | 皮膚疾患 |
(PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732] |
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| H01218 | P14 欠損症 | The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia ... | 原発性免疫不全症 | MAPBPIP [HSA:28956] [KO:K20398] | |
| H01219 | 拘束性心筋症 | Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial ... | 循環器系疾患 |
(RCM1) TNNI3 [HSA:7137] [KO:K12044] (RCM3) TNNT2 [HSA:7139] [KO:K12045] (RCM4) MYPN [HSA:84665] [KO:K22028] (RCM5) FLNC [HSA:2318] [KO:K27393] (RCM6) KIF20A [HSA:10112] [KO:K10402] DES [HSA:1674] [KO:K07610] ACTC1 [HSA:70] [KO:K12314] |
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| H01220 | 先天性白内障・顔貌異常およびニューロパチー | Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically ... | 先天奇形 | CTDP1 [HSA:9150] [KO:K15732] | |
| H01221 | 角膜上皮基底膜ジストロフィー | Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance ... | 神経系疾患 | TGFBI [HSA:7045] [KO:K19519] | |
| H01222 | カウデン症候群 | Cowden syndrome (CS) is an autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly ... | 先天奇形 |
(CWS1) PTEN [HSA:5728] [KO:K01110] (CWS2) SDHB [HSA:6390] [KO:K00235] (CWS3) SDHD [HSA:6392] [KO:K00237] (CWS4) KLLN [HSA:100144748] [KO:K23389] (CWS5) PIK3CA [HSA:5290] [KO:K00922] (CWS6) AKT1 [HSA:207] [KO:K04456] (CWS7) SEC23B [HSA:10483] [KO:K14006] |
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| H01223 |
常同性運動・てんかん および/または大脳奇形を伴う精神遅滞 5q14.3 欠失症候群 |
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic ... | 染色体異常 | MEF2C [HSA:4208] [KO:K04454] | |
| H01224 | Ketosis-prone diabetes mellitus | Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present ... | 内分泌代謝疾患 | PAX4 [HSA:5078] [KO:K08032] | |
| H01225 | D-2ヒドロキシグルタル酸尿症 | D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been ... | 先天性代謝異常症 |
(D2HGA1) D2HGDH [HSA:728294] [KO:K18204] (D2HGA2) IDH2 [HSA:3418] [KO:K00031] |
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| H01226 |
多合指症 軸前母指側多指 IV 型 |
Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of ... | 先天奇形 | GLI3 [HSA:2737] [KO:K06230] | |
| H01227 | 炎症性腸疾患 (IBD) | Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding ... | 免疫系疾患 | hsa05321 Inflammatory bowel disease |
(IBD1) NOD2 [HSA:64127] [KO:K10165] (IBD10) ATG16L1 [HSA:55054] [KO:K17890] (IBD13) ABCB1 [HSA:5243] [KO:K05658] (IBD14) IRF5 [HSA:3663] [KO:K09446] (IBD17) IL23R [HSA:149233] [KO:K05065] (IBD19) IRGM [HSA:345611] [KO:K14139] (IBD25) IL10RB [HSA:3588] [KO:K05135] (IBD28) IL10RA [HSA:3587] [KO:K05134] (IBD29) INAVA [HSA:55765] [KO:K26459] (IBD30) CARD8 [HSA:22900] [KO:K12801] (IBD31) IL37 [HSA:27178] [KO:K05485] IL10 [HSA:3586] [KO:K05443] MST1 [HSA:4485] [KO:K23441] |
| H01228 | タイプ A インスリン受容体異常症 | Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene ... | INSR [HSA:3643] [KO:K04527] | ||
| H01229 | Inclusion body myopathy 3 | Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively ... | 神経系疾患; 筋骨格疾患 | MYH2 [HSA:4620] [KO:K24220] | |
| H01230 | 成人発症型常染色体優性遺伝性白質ジストロフィー | Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype ... | 神経系疾患 | LMNB1 [HSA:4001] [KO:K07611] | |
| H01231 |
ビオチン・チアミン応答性大脳基底核疾患 チアミン代謝異常症候群 2 |
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion ... | 先天性代謝異常症 | SLC19A3 [HSA:80704] [KO:K14610] | |
| H01232 | 症候群性多臓器自己免疫疾患 | Syndromic multisystem autoimmune disease is a group of hereditary disorders that have a number of clinical features in addition to autoimmune disease. For example, ADMFD is characterized by organomegaly ... | 免疫系疾患 |
(ADMFD) ITCH [HSA:83737] [KO:K05632] (AIS1) FOXD3 [HSA:27022] [KO:K09397] (AIS6) SIAE [HSA:54414] [KO:K05970] (AIMTBS) PDCD1 [HSA:5133] [KO:K06744] |
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| H01233 | ウロカナーゼ欠損症 | Urocanase deficiency is an autosomal recessive disorder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity ... | 先天性代謝異常症 | UROC1 [HSA:131669] [KO:K01712] |