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 |
|---|---|---|---|---|---|
| H01927 | Van der Woude 症候群 | Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity ... | 先天奇形 |
(VWS1) IRF6 [HSA:3664] [KO:K10154] (VWS2) GRHL3 [HSA:57822] [KO:K09275] |
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| H01928 | Smith-Kingsmore 症候群 | Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous ... | 先天奇形 | MTOR [HSA:2475] [KO:K07203] | |
| H01929 | 2,4-ジエノイル CoA レダクターゼ欠損症 | Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay ... | 先天性代謝異常症, ミトコンドリア病 | NADK2 [HSA:133686] [KO:K00858] | |
| H01930 | Au-Kline 症候群 | Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and ... | 先天奇形 | HNRNPK [HSA:3190] [KO:K12886] | |
| H01931 | Bartsocas-Papas 症候群 | Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more ... | 先天奇形 |
(BPS1) RIPK4 [HSA:54101] [KO:K08848] (BPS2) CHUK [HSA:1147] [KO:K04467] |
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| H01932 | 無眼瞼・巨口症症候群 | Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported ... | 先天奇形 | TWIST2 [HSA:117581] [KO:K09069] | |
| H01933 | 汗孔角化症 | Porokeratosis (POROK) is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella ... | 先天奇形 |
(POROK1) PMVK [HSA:10654] [KO:K13273] (POROK3) MVK [HSA:4598] [KO:K00869] (POROK7) MVD [HSA:4597] [KO:K01597] (POROK8) SLC17A9 [HSA:63910] [KO:K12303] (POROK9) FDPS [HSA:2224] [KO:K00787] |
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| H01934 | Barber-Say 症候群 | Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It ... | 先天奇形 | TWIST2 [HSA:117581] [KO:K09069] | |
| H01935 | 家族性高胆汁性貧血 | Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation | 先天性代謝異常症 |
(FHCA1) TJP2 [HSA:9414] [KO:K06098] (FHCA2) SLC10A1 [HSA:6554] [KO:K14341] (FHCA3) BAAT [HSA:570] [KO:K00659] |
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| H01936 | 高ビリベルジン血症 | Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances ... | 先天性代謝異常症 | BLVRA [HSA:644] [KO:K00214] | |
| H01937 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55 ... | 先天奇形 | CEP55 [HSA:55165] [KO:K16456] | |
| H01938 | ジストニアを伴う高マンガン血症 | Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter ... | 血液疾患 |
(HMNDYT1) SLC30A10 [HSA:55532] [KO:K14697] (HMNDYT2) SLC39A14 [HSA:23516] [KO:K14720] |
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| H01939 |
糖原病 I 型 フォン・ギールケ病 |
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four ... | 先天性代謝異常症 |
(GSD Ia) G6PC [HSA:2538] [KO:K01084] (GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171] |
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| H01940 |
糖原病 II型 ポンペ病 |
Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results ... | 先天性代謝異常症, ライソゾーム病 | GAA [HSA:2548] [KO:K12316] | |
| H01941 |
糖原病 III 型 コーリ病 フォーブズ病 |
Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching ... | 先天性代謝異常症 | AGL [HSA:178] [KO:K01196] | |
| H01942 |
糖原病 IV 型 アンダーセン病 |
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen ... | 先天性代謝異常症 | GBE1 [HSA:2632] [KO:K00700] | |
| H01943 |
糖原病 V 型 マッカードル病 |
Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen ... | 先天性代謝異常症 | PYGM [HSA:5837] [KO:K00688] | |
| H01944 |
糖原病 VI 型 ハース病 |
Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen ... | 先天性代謝異常症 | PYGL [HSA:5836] [KO:K00688] | |
| H01945 |
糖原病 VII 型 垂井病 |
Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle ... | 先天性代謝異常症 | PFKM [HSA:5213] [KO:K00850] | |
| H01946 |
糖原病 XI 型 乳酸デヒドロゲナーゼ A 欠損症 |
Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase. | 先天性代謝異常症 | LDHA [HSA:3939] [KO:K00016] | |
| H01947 | ファンコニ・ビッケル症候群 | Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical ... | 先天性代謝異常症 | SLC2A2 [HSA:6514] [KO:K07593] | |
| H01948 |
糖原病 IX 型 ホスホリラーゼキナーゼ欠損症 |
Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four ... | 先天性代謝異常症 |
(GSD IXa) PHKA2 [HSA:5256] [KO:K07190] (GSD IXb) PHKB [HSA:5257] [KO:K07190] (GSD IXc) PHKG2 [HSA:5261] [KO:K00871] (GSD IXd) PHKA1 [HSA:5255] [KO:K07190] |
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| H01949 |
糖原病 0b 型 筋グリコーゲン合成酵素欠損症 |
Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, ... | 先天性代謝異常症 | GYS1 [HSA:2997] [KO:K00693] | |
| H01950 |
糖原病 0a 型 肝グリコーゲン合成酵素欠損症 |
Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0a is caused by mutations in the GYS2 gene, which ... | 先天性代謝異常症 | GYS2 [HSA:2998] [KO:K00693] | |
| H01951 | 糖原病 X 型 | Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The ... | 先天性代謝異常症 | PGAM2 [HSA:5224] [KO:K01834] | |
| H01952 | 糖原病 XII 型 | Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical ... | 先天性代謝異常症 | ALDOA [HSA:226] [KO:K01623] | |
| H01953 | 糖原病 XIII 型 | Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical ... | 先天性代謝異常症 | ENO3 [HSA:2027] [KO:K01689] | |
| H01954 |
糖原病 XIV 型 先天性グリコシル化異常症 It 型 |
Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the ... | 先天性代謝異常症 | PGM1 [HSA:5236] [KO:K01835] | |
| H01955 | 糖原病 XV 型 | Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentations ... | 先天性代謝異常症 | GYG1 [HSA:2992] [KO:K00750] | |
| H01956 | 心臓の糖原病 | Glycogen storage disease of heart (GSDH) is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized ... | 先天性代謝異常症 | PRKAG2 [HSA:51422] [KO:K07200] |