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 |
|---|---|---|---|---|---|
| H01777 | シュワルツ・ヤンペル症候群 | Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied ... | 神経系疾患; 筋骨格疾患 | HSPG2 [HSA:3339] [KO:K06255] | |
| H01778 |
ウルリッヒ病 ウルリッヒ型先天性筋ジストロフィー |
Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility ... | 神経系疾患; 筋骨格疾患 |
(UCMD1A) COL6A1 [HSA:1291] [KO:K06238] (UCMD1B) COL6A2 [HSA:1292] [KO:K06238] (UCMD1C) COL6A3 [HSA:1293] [KO:K06238] (UCMD2) COL12A1 [HSA:1303] [KO:K08132] |
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| H01779 | 神経フェリチン症 | Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain (FTL) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the ... | 神経変性疾患 | FTL [HSA:2512] [KO:K13625] | |
| H01780 | 非ジストロフィー性ミオトニー症候群 | Non-dystrophic myotonias are rare diseases caused by mutations in key skeletal muscle ion channels. The major clinical manifestation is muscle stiffness as a consequence of the myotonia. Additional common ... | 神経系疾患; 筋骨格疾患 |
CLCN1 [HSA:1180] [KO:K05010] SCN4A [HSA:6329] [KO:K04837] |
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| H01781 | 自己貪食空胞性ミオパチー | Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized ... | 神経系疾患; 筋骨格疾患 |
LAMP2 [HSA:3920] [KO:K06528] VMA21 [HSA:203547] [KO:K23952] |
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| H01782 | 好酸球性消化管疾患 | Eosinophilic gastrointestinal disorder (EGID) is a disorder characterised by eosinophilic infiltration of the gastrointestinal tract. The most common form of EGID is Eosinophilic Esophagitis (EoE). Other ... | 免疫系疾患 | ||
| H01783 | エプスタイン病 | Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied ... | 先天奇形 | ||
| H01784 | 原発性高カイロミクロン血症 | Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to the accumulation of chylomicron. The main clinical symptoms of this disorder are a huge increase in plasma triglyceride ... | 先天性代謝異常症 |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025] |
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| H01785 | 三尖弁閉鎖症 | Tricuspid atresia is the third most common cyanotic congenital heart defect. It consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle ... | 先天奇形 | ||
| H01786 | 修正大血管転位症 | Congenitally corrected transposition of the great arteries is a rare cardiac defect characterized by the combination of atrioventricular (AV) discordance and ventriculo-arterial (VA) discordance. The morphologic ... | 先天奇形 | ||
| H01787 | 単心室症 | Univentricular heart is a term used to describe a wide variety of structural cardiac abnormalities associated with a functional single ventricular chamber. Truly solitary ventricles are exceedingly rare ... | 先天奇形 | ||
| H01788 | クリッペル・トレノネー・ウェーバー症候群 | Klippel-Trenaunay-Weber syndrome is a rare congenital syndrome, consisting of vascular malformation of blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas ... | 先天奇形 | ||
| H01789 | You-Hoover-Fong 症候群 | You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals ... | 先天奇形 | TELO2 [HSA:9894] [KO:K11137] | |
| H01790 |
エマヌエル症候群 22番過剰派生染色体症候群 |
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies ... | 染色体異常 | ||
| H01791 | スミス・マギニス症候群 | Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. SMS is characterised by intellectual disability ... | 染色体異常 | (SMS) RAI1 [HSA:10743] [KO:K19749] | |
| H01792 | 1p36 欠失症候群 | 1p36 deletion syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features ... | 染色体異常 | ||
| H01793 | ヤング・シンプソン症候群 | Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability ... | 先天奇形 | KAT6B [HSA:23522] [KO:K11306] | |
| H01794 |
Genitopatellar 症候群 性器膝蓋骨症候群 |
Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive ... | 先天奇形 | KAT6B [HSA:23522] [KO:K11306] | |
| H01795 | 眼瞼裂狭小・精神遅滞症候群 | Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying ... | 先天奇形 |
(SBBYS) KAT6B [HSA:23522] [KO:K11306] (OHDOX) MED12 [HSA:9968] [KO:K15162] |
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| H01796 | 櫛でとかせない頭髪症候群 | Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected ... | 先天奇形 |
(UHS1) PADI3 [HSA:51702] [KO:K01481] (UHS2) TGM3 [HSA:7053] [KO:K05620] (UHS3) TCHH [HSA:7062] [KO:K18626] |
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| H01797 | Webb-Dattani 症候群 | Webb-Dattani syndrome is an autosomal recessive disorder characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe ... | 先天奇形 | ARNT2 [HSA:9915] [KO:K15589] | |
| H01798 | 常染色体優性遺伝性新生血管炎症性硝子体網膜症 | Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an inherited autoimmune uveitis and vitreoretinal degeneration characterized by inflammatory cells in the vitreous and anterior ... | 神経系疾患 | CAPN5 [HSA:726] [KO:K08574] | |
| H01799 | 振動性蕁麻疹 | Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory ... | 免疫系疾患; 皮膚疾患 | ADGRE2 [HSA:30817] [KO:K08443] | |
| H01800 | Verheij 症候群 | Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, ... | 先天奇形 | PUF60 [HSA:22827] [KO:K12838] | |
| H01801 |
第１４番染色体父親性ダイソミー症候群 鏡・緒方症候群 |
Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios ... | 染色体異常 | ||
| H01802 | 心室中隔欠損を伴わない肺動脈閉鎖症 | Pulmonary atresia with intact ventricular septum (PAIVS) is a severe cardiac malformation characterized by variable right ventricular development and imperforate pulmonary valve. PAIVS has a wide spectrum ... | 先天奇形 | ||
| H01803 | 心室中隔欠損を伴う肺動脈閉鎖症 | Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence ... | 先天奇形 | ||
| H01804 | アイザックス症候群 | Isaacs syndrome is a rare neuromuscular disorder of continuous muscle fibre activity resulting from peripheral nerve hyper excitability. Symptoms commonly include myokymia, pseudomyotonia, muscle cramps ... | 神経系疾患; 筋骨格疾患 | ||
| H01805 | Tricho-hepato-enteric 症候群 | Tricho-hepato-enteric syndrome (THE), also known as syndromic diarrhea (SD), is a congenital enteropathy presenting with early-onset severe intractable diarrhea and associated with non-specific villous ... | 先天奇形 |
(THES1) SKIC3 [HSA:9652] [KO:K12600] (THES2) SKIC2 [HSA:6499] [KO:K12599] |
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| H01806 | Tenorio 症候群 | Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502] ... | 先天奇形 | RNF125 [HSA:54941] [KO:K12170] |