KEGG MEDICUS Search Result |
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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00202 | Hepatic porphyria | Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic | Inherited metabolic disorder |
(PCT) UROD [HSA:7389] [KO:K01599] (AIP) HMBS [HSA:3145] [KO:K01749] (VP) PPOX [HSA:5498] [KO:K00231] (ALADP) ALAD [HSA:210] [KO:K01698] (HCP) CPOX [HSA:1371] [KO:K00228] |
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| H00203 |
Acatalasemia Takahara disease |
Acatalasemia, also known as acatalasia, is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such ... | Inherited metabolic disorder | CAT [HSA:847] [KO:K03781] | |
| H00204 | Heimler syndrome | Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been ... | Inherited metabolic disorder, Peroxisomal disease |
(HMLR1) PEX1 [HSA:5189] [KO:K13338] (HMLR2) PEX6 [HSA:5190] [KO:K13339] |
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| H00205 | Peroxisome biogenesis disorder | Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal ... | Inherited metabolic disorder, Peroxisomal disease |
(PBD1A/1B) PEX1 [HSA:5189] [KO:K13338] (PBD2A/2B) PEX5 [HSA:5830] [KO:K13342] (PBD3A/3B) PEX12 [HSA:5193] [KO:K13345] (PBD4A/4B) PEX6 [HSA:5190] [KO:K13339] (PBD5A/5B) PEX2 [HSA:5828] [KO:K06664] (PBD6A/6B) PEX10 [HSA:5192] [KO:K13346] (PBD7A/7B) PEX26 [HSA:55670] [KO:K13340] (PBD8A/8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10A) PEX3 [HSA:8504] [KO:K13336] (PBD11A/11B) PEX13 [HSA:5194] [KO:K13344] (PBD12A) PEX19 [HSA:5824] [KO:K13337] (PBD13A) PEX14 [HSA:5195] [KO:K13343] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
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| H00206 | Mevalonate kinase deficiency | Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia ... | Inherited metabolic disorder | MVK [HSA:4598] [KO:K00869] | |
| H00207 | Rhizomelic chondrodysplasia punctata | Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone ... | Inherited metabolic disorder, Peroxisomal disease |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
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| H00208 | Hyperbilirubinemia | Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin ... | Inherited metabolic disorder |
(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699] (DJS) ABCC2 [HSA:1244] [KO:K05666] (RS) SLCO1B1 [HSA:10599] [KO:K05043] (RS) SLCO1B3 [HSA:28234] [KO:K05043] |
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| H00209 | Menkes syndrome | Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients ... | Inherited metabolic disorder | ATP7A [HSA:538] [KO:K17686] | |
| H00210 |
Wilson disease Hepatolenticular degeneration |
Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper ... | Inherited metabolic disorder | ATP7B [HSA:540] [KO:K17686] | |
| H00211 | Hemochromatosis | Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body. | Inherited metabolic disorder |
(HFE1) HFE [HSA:3077] [KO:K26535] (HFE2A) HJV [HSA:148738] [KO:K23100] (HFE2B) HAMP [HSA:57817] [KO:K23106] (HFE3) TFR2 [HSA:7036] [KO:K23910] (HFE4) SLC40A1 [HSA:30061] [KO:K14685] (HFE5) FTH1 [HSA:2495] [KO:K00522] |
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| H00212 | Acrodermatitis enteropathica | 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 ... | Inherited metabolic disorder | SLC39A4 [HSA:55630] [KO:K14710] | |
| H00213 | Hypophosphatasia | 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 ... | Inherited metabolic disorder | ALPL [HSA:249] [KO:K01077] | |
| H00214 | Hypophosphatemic rickets | 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 ... | Inherited metabolic disorder |
(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 | Periodic paralysis | The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) ... | Nervous system disease; Musculoskeletal disease |
(HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837] (HOKPP1) CACNA1S [HSA:779] [KO:K04857] (ATS) KCNJ2 [HSA:3759] [KO:K04996] |
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| H00216 | Congenital adrenal hyperplasia | 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 ... | Endocrine and metabolic disease |
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 | Pulmonary alveolar proteinosis | 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 ... | Respiratory system disease | ||
| H00218 | Cystic fibrosis | 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 ... | Respiratory system disease |
CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472] |
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| H00219 | Hemophilia | 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 ... | Hematologic disease |
(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 |
Factor V deficiency Owren disease |
Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C. | Hematologic disease | F5 [HSA:2153] [KO:K03902] | |
| H00221 | Combined deficiency of factors V and VIII | 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 | Hematologic disease |
LMAN1 [HSA:3998] [KO:K10080] MCFD2 [HSA:90411] [KO:K20364] |
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| H00222 |
Afibrinogenemia Dysfibrinogenemia |
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 ... | Hematologic disease |
FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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| H00223 |
Inherited thrombophilia Thrombophilia due to thrombin defect (THPH) |
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. | Hematologic disease |
(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 |
Bernard-Soulier syndrome Giant platelet syndrome |
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 ... | Hematologic disease |
GP1BA [HSA:2811] [KO:K06261] GP1BB [HSA:2812] [KO:K06262] GP9 [HSA:2815] [KO:K06263] |
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| H00225 |
Thrombotic thrombocytopenic purpura Moschcowitz disease Schulman-Upshaw syndrome |
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 ... | Cardiovascular disease | ADAMTS13 [HSA:11093] [KO:K08627] | |
| H00226 | Glanzmann thrombasthenia | 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 ... | Hematologic disease |
(GT1) ITGA2B [HSA:3674] [KO:K06476] (GT2) ITGB3 [HSA:3690] [KO:K06493] |
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| H00227 | Congenital amegakaryocytic thrombocytopenia | Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced ... | Hematologic disease |
(CAMT1) MPL [HSA:4352] [KO:K05082] (CAMT2) THPO [HSA:7066] [KO:K06854] |
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| H00228 | Thalassemia | 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 ... | Hematologic disease |
(Alpha) HBA1 [HSA:3039] [KO:K13822] (Alpha) HBA2 [HSA:3040] [KO:K13822] (Beta) HBB [HSA:3043] [KO:K13823] (Beta) HBG1 [HSA:3047] [KO:K13824] (Beta) HBG2 [HSA:3048] [KO:K13824] (ATRX) ATRX [HSA:546] [KO:K10779] |
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| H00229 |
Sickle cell disease Sickle cell anemia |
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 ... | Hematologic disease | HBB [HSA:3043] [KO:K13823] | |
| H00230 | Hereditary spherocytosis | Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis. | Hematologic disease |
(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 | Hereditary elliptocytosis | 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 ... | Hematologic disease |
(EL1) EPB41 [HSA:2035] [KO:K06107] (EL2) SPTA1 [HSA:6708] [KO:K27408] (EL3) SPTB [HSA:6710] [KO:K27409] |
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| H00232 | Hereditary stomatocytosis | 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. | Hematologic disease |
(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-related disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (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 ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] | |
| H00234 | Pelger-Huet anomaly | Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities. | Hematologic disease | LBR [HSA:3930] [KO:K19532] | |
| H00235 | Methemoglobinemia | Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency. | Hematologic disease |
CYB5R3 [HSA:1727] [KO:K00326] CYB5A [HSA:1528] [KO:K23490] HBA1 [HSA:3039] [KO:K13822] HBB [HSA:3043] [KO:K13823] |
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| H00236 |
Congenital polycythemia Familial erythrocytosis (ECYT) |
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 ... | Hematologic disease |
(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 | Diamond-Blackfan anemia | 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 ... | Ribosomopathy |
(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] |
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| H00238 | Fanconi anemia | 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 ... | Hematologic disease |
(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] |
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| H00239 | Bartter syndrome | 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 ... | Endocrine and metabolic disease |
(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 | Gitelman syndrome | 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 ... | Endocrine and metabolic disease | SLC12A3 [HSA:6559] [KO:K14426] | |
| H00241 | Combined proximal and distal renal tubular acidosis (RTA type 3) | 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 ... | Urinary system disease | CA2 [HSA:760] [KO:K18245] |
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