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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| H00212 | 腸性肢端皮膚炎 | Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence ... | 先天性代謝異常症 | SLC39A4 [HSA:55630] [KO:K14710] | |
| H00213 | 低ホスファターゼ症 | Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal ... | 先天性代謝異常症 | ALPL [HSA:249] [KO:K01077] | |
| H00214 | 低リン血症性くる病 | Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia ... | 先天性代謝異常症 |
(XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
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| H00215 | 遺伝性周期性四肢麻痺 | The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) ... | 神経系疾患; 筋骨格疾患 |
(HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837] (HOKPP1) CACNA1S [HSA:779] [KO:K04857] (ATS) KCNJ2 [HSA:3759] [KO:K04996] |
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| H00216 |
先天性副腎過形成症 先天性副腎酵素欠損症 |
Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed ... | 内分泌代謝疾患 |
STAR [HSA:6770] [KO:K16931] HSD3B2 [HSA:3284] [KO:K00070] CYP21A2 [HSA:1589] [KO:K00513] CYP11B1 [HSA:1584] [KO:K00497] CYP17A1 [HSA:1586] [KO:K00512] |
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| H00217 | 肺胞蛋白症 | Pulmonary alveolar proteinosis (PAP) is a rare but potentially treatable disease, characterized by impaired surfactant metabolism that leads to accumulation in the alveoli of proteinaceous material rich ... | 呼吸器系疾患 | ||
| H00218 | 嚢胞性線維症 | Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder ... | 呼吸器系疾患 |
CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472] |
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| H00219 | 血友病 | Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor ... | 血液疾患 |
(HEMA) F8 [HSA:2157] [KO:K03899] (HEMB) F9 [HSA:2158] [KO:K01321] (VWD) VWF [HSA:7450] [KO:K03900] (VWDP) GP1BA [HSA:2811] [KO:K06261] |
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| H00220 | 第V因子欠損症 | Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C. | 血液疾患 | F5 [HSA:2153] [KO:K03902] | |
| H00221 | 第Vおよび第VIII因子合併欠乏症 | Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as a cargo receptor for transport of coagulation factors V and VIII from ER to Golgi | 血液疾患 |
LMAN1 [HSA:3998] [KO:K10080] MCFD2 [HSA:90411] [KO:K20364] |
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| H00222 | 先天性フィブリノゲン欠乏症 | Congenital fibrinogen defects caused by mutation of any of fibrinogen genes (FGA, FGB, and FGG) include both quantitative defects (type I deficiencies or afibrinogenemia) and qualitative defects (type ... | 血液疾患 |
FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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| H00223 | 遺伝性血栓性素因 | Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. | 血液疾患 |
(THPH1) F2 [HSA:2147] [KO:K01313] (THPH2) F5 [HSA:2153] [KO:K03902] (THPH3/4) PROC [HSA:5624] [KO:K01344] (THPH5/6) PROS1 [HSA:5627] [KO:K03908] (THPH7) SERPINC1 [HSA:462] [KO:K03911] (THPH8) F9 [HSA:2158] [KO:K01321] (THPH10) SERPIND1 [HSA:3053] [KO:K03912] (THPH11) HRG [HSA:3273] [KO:K23410] (THPH12) THBD [HSA:7056] [KO:K03907] (THPH13) F8 [HSA:2157] [KO:K03899] FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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| H00224 | ベルナール・スーリエ症候群 | Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and ... | 血液疾患 |
GP1BA [HSA:2811] [KO:K06261] GP1BB [HSA:2812] [KO:K06262] GP9 [HSA:2815] [KO:K06263] |
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| H00225 | 血栓性血小板減少性紫斑病 | Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have ... | 循環器系疾患 | ADAMTS13 [HSA:11093] [KO:K08627] | |
| H00226 | グランツマン血小板無力症 | Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... | 血液疾患 |
(GT1) ITGA2B [HSA:3674] [KO:K06476] (GT2) ITGB3 [HSA:3690] [KO:K06493] |
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| H00227 | 先天性無巨核球性血小板減少症 | Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced ... | 血液疾患 |
(CAMT1) MPL [HSA:4352] [KO:K05082] (CAMT2) THPO [HSA:7066] [KO:K06854] |
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| H00228 | サラセミア | Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis ... | 血液疾患 |
(Alpha) HBA1 [HSA:3039] [KO:K13822] (Alpha) HBA2 [HSA:3040] [KO:K13822] (Beta) HBB [HSA:3043] [KO:K13823] (HPFH) HBG1 [HSA:3047] [KO:K13824] (HPFH) HBG2 [HSA:3048] [KO:K13824] (ATRX) ATRX [HSA:546] [KO:K10779] |
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| H00229 |
鎌状赤血球症 鎌状赤血球貧血 |
Sickle cell disease, also known as Sickle cell anaemia, is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of ... | 血液疾患 | HBB [HSA:3043] [KO:K13823] | |
| H00230 | 遺伝性球状赤血球症 | Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis. | 血液疾患 |
(SPH1) ANK1 [HSA:286] [KO:K10380] (SPH2) SPTB [HSA:6710] [KO:K27409] (SPH3) SPTA1 [HSA:6708] [KO:K27408] (SPH4) SLC4A1 [HSA:6521] [KO:K06573] (SPH5) EPB42 [HSA:2038] [KO:K25094] |
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| H00231 | 遺伝性楕円赤血球症 | Hereditary elliptocytosis (EL) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte ... | 血液疾患 |
(EL1) EPB41 [HSA:2035] [KO:K06107] (EL2) SPTA1 [HSA:6708] [KO:K27408] (EL3) SPTB [HSA:6710] [KO:K27409] |
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| H00232 | 遺伝性有口赤血球症 | Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. | 血液疾患 |
(OHST) RHAG [HSA:6005] [KO:K06580] (DHS1) PIEZO1 [HSA:9780] [KO:K22128] (DHS2) KCNN4 [HSA:3783] [KO:K04945] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] (CHC) SLC4A1 [HSA:6521] [KO:K06573] (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299] |
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| H00233 |
MYH9 異常症 腎炎や感音性難聴を伴う(伴わない)巨大血小板性血小板減少症及び顆粒球内封入体 (MATINS) |
The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of ... | 循環器系疾患 | MYH9 [HSA:4627] [KO:K10352] | |
| H00234 | ペルゲル・フエット核異常 | Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities. | 血液疾患 | LBR [HSA:3930] [KO:K19532] | |
| H00235 | メトヘモグロビン血症 | Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency. | 血液疾患 |
CYB5R3 [HSA:1727] [KO:K00326] (alpha) HBA1 [HSA:3039] [KO:K13822] (beta) HBB [HSA:3043] [KO:K13823] (METAG) CYB5A [HSA:1528] [KO:K23490] |
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| H00236 |
先天性赤血球増加症 家族性赤血球増加症 |
Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... | 血液疾患 |
(ECYT1) EPOR [HSA:2057] [KO:K05079] (ECYT1) JAK2 [HSA:3717] [KO:K04447] (ECYT1) SH2B3 [HSA:10019] [KO:K12459] (ECYT2) VHL [HSA:7428] [KO:K03871] (ECYT3) EGLN1 [HSA:54583] [KO:K09592] (ECYT4) EPAS1 [HSA:2034] [KO:K09095] (ECYT5) EPO [HSA:2056] [KO:K05437] (ECYT6) HBB [HSA:3043] [KO:K13823] (ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822] (ECYT8) BPGM [HSA:669] [KO:K01837] |
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| H00237 | ダイアモンド・ブラックファン貧血 | Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the ... | リボソーム病 |
(DBA1) RPS19 [HSA:6223] [KO:K02966] (DBA3) RPS24 [HSA:6229] [KO:K02974] (DBA4) RPS17 [HSA:6218] [KO:K02962] (DBA5) RPL35A [HSA:6165] [KO:K02917] (DBA6) RPL5 [HSA:6125] [KO:K02932] (DBA7) RPL11 [HSA:6135] [KO:K02868] (DBA8) RPS7 [HSA:6201] [KO:K02993] (DBA9) RPS10 [HSA:6204] [KO:K02947] (DBA10) RPS26 [HSA:6231] [KO:K02976] (DBA11) RPL26 [HSA:6154] [KO:K02898] (DBA12) RPL15 [HSA:6138] [KO:K02877] (DBA13) RPS29 [HSA:6235] [KO:K02980] (DBA14) TSR2 [HSA:90121] [KO:K14800] (DBA15) RPS28 [HSA:6234] [KO:K02979] (DBA16) RPL27 [HSA:6155] [KO:K02901] (DBA17) RPS27 [HSA:6232] [KO:K02978] (DBA18) RPL18 [HSA:6141] [KO:K02883] (DBA19) RPL35 [HSA:11224] [KO:K02918] (DBA20) RPS15A [HSA:6210] [KO:K02957] (DBA21) HEATR3 [HSA:55027] [KO:K24812] (DBA22) RPL17 [HSA:6139] [KO:K02880] |
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| H00238 | ファンコニ貧血 | Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility ... | 血液疾患 |
(FANCA) FANCA [HSA:2175] [KO:K10888] (FANCB) FANCB [HSA:2187] [KO:K10889] (FANCC) FANCC [HSA:2176] [KO:K10890] (FANCD1) BRCA2 [HSA:675] [KO:K08775] (FANCD2) FANCD2 [HSA:2177] [KO:K10891] (FANCE) FANCE [HSA:2178] [KO:K10892] (FANCF) FANCF [HSA:2188] [KO:K10893] (FANCG) FANCG [HSA:2189] [KO:K10894] (FANCI) FANCI [HSA:55215] [KO:K10895] (FANCJ) BRIP1 [HSA:83990] [KO:K15362] (FANCL) FANCL [HSA:55120] [KO:K10606] (FANCM) FANCM [HSA:57697] [KO:K10896] (FANCN) PALB2 [HSA:79728] [KO:K10897] (FANCO) RAD51C [HSA:5889] [KO:K10870] (FANCP) SLX4 [HSA:84464] [KO:K10484] (FANCQ) ERCC4 [HSA:2072] [KO:K10848] (FANCR) RAD51 [HSA:5888] [KO:K04482] (FANCS) BRCA1 [HSA:672] [KO:K10605] (FANCT) UBE2T [HSA:29089] [KO:K13960] (FANCU) XRCC2 [HSA:7516] [KO:K10879] (FANCV) MAD2L2 [HSA:10459] [KO:K13728] (FANCW) RFWD3 [HSA:55159] [KO:K15691] (FANCX) FAAP100 [HSA:80233] [KO:K10993] |
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| H00239 | バーター症候群 | Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated ... | 内分泌代謝疾患 |
(BARTS1) SLC12A1 [HSA:6557] [KO:K14425] (BARTS2) KCNJ1 [HSA:3758] [KO:K04995] (BARTS3) CLCNKB [HSA:1188] [KO:K05018] (BARTS4A) BSND [HSA:7809] [KO:K19331] (BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018] (BARTS5) MAGED2 [HSA:10916] [KO:K24127] (HYPOC1) CASR [HSA:846] [KO:K04612] |
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| H00240 | ギテルマン症候群 | Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive ... | 内分泌代謝疾患 | SLC12A3 [HSA:6559] [KO:K14426] | |
| H00241 |
尿細管性アシドーシスを伴う大理石骨病 尿細管性アシドーシス III 型 |
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the ... | 泌尿器系疾患 | CA2 [HSA:760] [KO:K18245] |