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 |
|---|---|---|---|---|---|
| H02047 | Bohring-Opitz 症候群 | Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies ... | 先天奇形 | ASXL1 [HSA:171023] [KO:K11471] | |
| H02048 | ラーセン症候群 | Larsen syndrome (LRS) is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently ... | 先天奇形 | FLNB [HSA:2317] [KO:K27392] | |
| H02049 | 両側副腎皮質大結節性過形成 | Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal ... | 内分泌代謝疾患 |
(AIMAH1) GNAS [HSA:2778] [KO:K04632] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (AIMAH3) KDM1A [HSA:23028] [KO:K11450] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
|
| H02050 | 前思春期性歯周炎 | Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and ... | 消化器系疾患 | CTSC [HSA:1075] [KO:K01275] | |
| H02051 | メイ・ヘグリン異常 | The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested ... | 循環器系疾患 | MYH9 [HSA:4627] [KO:K10352] | |
| H02052 | セバスチャン症候群 | Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result ... | 循環器系疾患 | MYH9 [HSA:4627] [KO:K10352] | |
| H02053 | フェクトナー症候群 | Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features ... | 循環器系疾患 | MYH9 [HSA:4627] [KO:K10352] | |
| H02054 | クリグラー・ナジャー症候群 | Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin ... | 先天性代謝異常症 | UGT1A1 [HSA:54658] [KO:K00699] | |
| H02055 | ジルベール症候群 | Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion ... | 先天性代謝異常症 | UGT1A1 [HSA:54658] [KO:K00699] | |
| H02056 | デュビン・ジョンソン症候群 | Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused ... | 先天性代謝異常症 | ABCC2 [HSA:1244] [KO:K05666] | |
| H02057 | ローター症候群 | Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted ... | 先天性代謝異常症 |
SLCO1B1 [HSA:10599] [KO:K05043] SLCO1B3 [HSA:28234] [KO:K05043] |
|
| H02058 | Kohlschutter-Tonz 症候群 | Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused ... | 神経系疾患 | ROGDI [HSA:79641] [KO:K24628] | |
| H02059 | レプチン欠損症 | Congenital leptin deficiency (LEPD) is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been ... | 内分泌代謝疾患 | LEP [HSA:3952] [KO:K05424] | |
| H02060 | レプチン受容体欠損症 | Leptin receptor deficiency (LEPRD) is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease | 内分泌代謝疾患 | LEPR [HSA:3953] [KO:K05062] | |
| H02061 | エストロゲン不応症候群 | Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported ... | 内分泌代謝疾患 | ESR1 [HSA:2099] [KO:K08550] | |
| H02062 | 短指を伴う家族性指関節症 | Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal ... | 筋骨格疾患 | TRPV4 [HSA:59341] [KO:K04973] | |
| H02063 | 捻曲性骨異形成症 | Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. ... | 先天奇形 | SLC26A2 [HSA:1836] [KO:K14701] | |
| H02064 | 骨発生不全症 I 型 および III 型 | Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations ... | 先天奇形 | FLNB [HSA:2317] [KO:K27392] | |
| H02065 |
軟骨無発生症 IB 型 Fraccaro 型軟骨無発生症 |
Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier ... | 先天奇形 | SLC26A2 [HSA:1836] [KO:K14701] | |
| H02066 |
軟骨無発生症 II 型 Langer-Saldino 型軟骨無発生症 |
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations. | 先天奇形 | COL2A1 [HSA:1280] [KO:K19719] | |
| H02067 | ブーメラン異形成 | Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long ... | 先天奇形 | FLNB [HSA:2317] [KO:K27392] | |
| H02068 | 軟骨低形成症 | Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth ... | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H02069 |
SADDAN 発達遅滞と黒色表皮腫を伴う重症軟骨無形成症 |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3). | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H02070 | Kniest 異形成症 | Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face ... | 先天奇形 | COL2A1 [HSA:1280] [KO:K19719] | |
| H02071 | Czech 異形成症 | Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical ... | 先天奇形 | COL2A1 [HSA:1280] [KO:K19719] | |
| H02072 | スティックラー症候群 | Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy ... | 先天奇形 |
(STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (STL3/OSMEDA) COL11A2 [HSA:1302] [KO:K19721] (STL4) COL9A1 [HSA:1297] [KO:K08131] (STL5) COL9A2 [HSA:1298] [KO:K08131] (STL6) COL9A3 [HSA:1299] [KO:K08131] |
|
| H02073 | Wagner 症候群 | Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN ... | 神経系疾患 | VCAN [HSA:1462] [KO:K06793] | |
| H02074 | Knobloch 症候群 | Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations ... | 先天奇形 |
(KNO1) COL18A1 [HSA:80781] [KO:K06823] (KNO2) PAK2 [HSA:5062] [KO:K04410] |
|
| H02075 | S 錐体増強症候群 | Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness ... | 神経系疾患 |
(ESCS1) NR2E3 [HSA:10002] [KO:K08546] (ESCS2) NRL [HSA:4901] [KO:K09038] |
|
| H02076 | Bacteroides 感染症 | The genus Bacteroides, anaerobic, bile-resistant, non-spore-forming, gram-negative rod, is capable of causing very serious infections (e.g., intra-abdominal sepsis and bacteremia). Particularly, intra-abdominal ... | 細菌感染症 |