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 |
|---|---|---|---|---|---|
| H01957 | 福山型先天性筋ジストロフィー | Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD ... | 先天性代謝異常症 | FKTN [HSA:2218] [KO:K19872] | |
| H01958 | メロシン欠損型先天性筋ジストロフィー | Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations ... | 神経系疾患; 筋骨格疾患 | LAMA2 [HSA:3908] [KO:K05637] | |
| H01959 | 筋ジストロフィー・ジストログリカノパチー C 型 | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | 先天性代謝異常症 |
(MDDGC1) POMT1 [HSA:10585] [KO:K00728] (MDDGC2) POMT2 [HSA:29954] [KO:K00728] (MDDGC3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGC4) FKTN [HSA:2218] [KO:K19872] (MDDGC5) FKRP [HSA:79147] [KO:K19873] (MDDGC7) CRPPA [HSA:729920] [KO:K21031] (MDDGC8) POMGNT2 [HSA:84892] [KO:K18207] (MDDGC9) DAG1 [HSA:1605] [KO:K06265] (MDDGC12) POMK [HSA:84197] [KO:K17547] (MDDGC14) GMPPB [HSA:29925] [KO:K00966] (MDDGC15) DPM3 [HSA:54344] [KO:K09659] |
|
| H01960 | 筋ジストロフィー・ジストログリカノパチー B 型 | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | 先天性代謝異常症 |
(MDDGB1) POMT1 [HSA:10585] [KO:K00728] (MDDGB2) POMT2 [HSA:29954] [KO:K00728] (MDDGB3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGB4) FKTN [HSA:2218] [KO:K19872] (MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873] (MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668] (MDDGB14) GMPPB [HSA:29925] [KO:K00966] (MDDGB15) DPM3 [HSA:54344] [KO:K09659] |
|
| H01961 | 先天性筋ジストロフィー 1C 型 | Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused ... | 先天性代謝異常症 | FKRP [HSA:79147] [KO:K19873] | |
| H01962 | 先天性筋ジストロフィー 1D 型 | Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in ... | 先天性代謝異常症 | LARGE [HSA:9215] [KO:K09668] | |
| H01963 | デュシェンヌ型筋ジストロフィー | Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer ... | 神経系疾患; 筋骨格疾患 | DMD [HSA:1756] [KO:K10366] | |
| H01964 | ベッカー型筋ジストロフィー | Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the ... | 神経系疾患; 筋骨格疾患 | DMD [HSA:1756] [KO:K10366] | |
| H01965 |
三好型筋ジストロフィー 三好型ミオパチー |
Miyoshi muscular dystrophy (MMD) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms ... | 神経系疾患; 筋骨格疾患 |
(MMD1) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] |
|
| H01966 |
軟骨毛髪低形成症 骨幹端異形成症 McKusik 型 |
Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, ... | リボソーム病 | RMRP [HSA:6023] [KO:K14576] | |
| H01967 | Anauxetic dysplasia | Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently ... | 先天奇形 |
(ANXD1) RMRP [HSA:6023] [KO:K14576] (ANXD2) POP1 [HSA:10940] [KO:K01164] (ANXD3) NEPRO [HSA:25871] [KO:K27075] |
|
| H01968 |
高 IgE 症候群 Job 症候群 Buckley 症候群 |
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria ... | 免疫系疾患 |
(HIES1) STAT3 [HSA:6774] [KO:K04692] (HIES2) DOCK8 [HSA:81704] [KO:K21852] (HIES3) ZNF341 [HSA:84905] [KO:K24852] (HIES4A/4B) IL6ST [HSA:3572] [KO:K05060] (HIES5) IL6R [HSA:3570] [KO:K05055] (HIES6) STAT6 [HSA:6778] [KO:K11225] (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219] (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836] |
|
| H01969 |
X連鎖性リンパ球増殖症候群 Duncan 病 |
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response ... | 原発性免疫不全症 |
(XLP1) SH2D1A [HSA:4068] [KO:K07990] (XLP2) XIAP [HSA:331] [KO:K04725] |
|
| H01970 | リンパ球増殖症候群 | Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common ... | 原発性免疫不全症 |
(LPFS1) ITK [HSA:3702] [KO:K07363] (LPFS2) CD27 [HSA:939] [KO:K05144] (LPFS3) CD70 [HSA:970] [KO:K05470] |
|
| H01971 | IPEX 症候群 | IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of ... | 原発性免疫不全症 | FOXP3 [HSA:50943] [KO:K10163] | |
| H01972 |
多腺性自己免疫症候群 1型 自己免疫性多腺性内分泌不全症・カンジダ症・外胚葉ジストロフィー (APECED) |
Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies ... | 原発性免疫不全症 | AIRE [HSA:326] [KO:K10603] | |
| H01973 | 妊性宦官型症候群 | Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis ... | 先天奇形 | LHB [HSA:3972] [KO:K08521] | |
| H01974 | 肢帯型筋ジストロフィー 2B | Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized ... | 神経系疾患; 筋骨格疾患 | DYSF [HSA:8291] [KO:K18261] | |
| H01975 | Welander 遠位型ミオパチー | Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common ... | 神経系疾患; 筋骨格疾患 | TIA1 [HSA:7072] [KO:K13201] | |
| H01976 | 脛骨筋ジストロフィー | Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains ... | 神経系疾患; 筋骨格疾患 | TTN [HSA:7273] [KO:K12567] | |
| H01977 |
Laing 遠位型ミオパチー 遠位型ミオパチー 1 |
Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal ... | 神経系疾患; 筋骨格疾患 | MYH7 [HSA:4625] [KO:K17751] | |
| H01978 | 乾性遺伝性有口赤血球症 | Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate ... | 循環器系疾患 |
(DHS1) PIEZO1 [HSA:9780] [KO:K22128] (DHS2) KCNN4 [HSA:3783] [KO:K04945] |
|
| H01979 | 水分過剰遺伝性有口赤血球症 | Overhydrated hereditary stomatocytosis (OHST), which is clinically characterized by a hemolytic anemia, is a rare, dominantly inherited disorder of red blood cells (RBCs) associated with increased membrane ... | 血液疾患 | RHAG [HSA:6005] [KO:K06580] | |
| H01980 |
SCAD 欠損症 短鎖アシルCoA デヒドロゲナーゼ欠損症 ACADS 欠損症 |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting ... | 先天性代謝異常症, ミトコンドリア病 | ACADS [HSA:35] [KO:K00248] | |
| H01981 | カルニチンパルミトイルトランスフェラーゼ I 欠損症 | Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria ... | 先天性代謝異常症, ミトコンドリア病 | CPT1A [HSA:1374] [KO:K08765] | |
| H01982 | カルニチンパルミトイルトランスフェラーゼ II 欠損症 | Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined ... | 先天性代謝異常症, ミトコンドリア病 | CPT2 [HSA:1376] [KO:K08766] | |
| H01983 | カルニチン-アシルカルニチントランスロカーゼ欠損症 | Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting ... | 先天性代謝異常症 | SLC25A20 [HSA:788] [KO:K15109] | |
| H01984 | レオパード症候群 | LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic ... | 先天奇形 |
(LPRD1) PTPN11 [HSA:5781] [KO:K07293] (LPRD2) RAF1 [HSA:5894] [KO:K04366] (LPRD3) BRAF [HSA:673] [KO:K04365] |
|
| H01985 | 繊維形成性小円形細胞腫瘍 | Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality ... | がん |
EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234] MET (mutation) [HSA:4233] [KO:K05099] PIK3CA (mutation) [HSA:5290] [KO:K00922] |
|
| H01986 | Legius 症候群 | Legius syndrome (LS) is a mild neurofibromatosis type 1-like syndrome. Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a ... | 先天奇形 | SPRED1 [HSA:161742] [KO:K04703] |