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Entry | Name | Description | Category | Pathway | Gene |
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H00200 | Beta-ureidopropionase deficiency | Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental ... | Inherited metabolic disorder | UPB1 [HSA:51733] [KO:K01431] | |
H00201 | Erythropoietic porphyria | Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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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 | ... severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single ... | 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 | ... detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more ... | 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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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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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] | |
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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H00227 | Congenital amegakaryocytic thrombocytopenia | ... marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by ... | Hematologic disease |
(CAMT1) MPL [HSA:4352] [KO:K05082] (CAMT2) THPO [HSA:7066] [KO:K06854] |
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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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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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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] | |
H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | ... extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular ... | Urinary system disease |
(PHA1A) NR3C2 [HSA:4306] [KO:K08555] (PHA1B1) SCNN1A [HSA:6337] [KO:K04824] (PHA1B2) SCNN1B [HSA:6338] [KO:K04825] (PHA1B3) SCNN1G [HSA:6340] [KO:K04827] (PHA2B) WNK4 [HSA:65266] [KO:K08867] (PHA2C) WNK1 [HSA:65125] [KO:K08867] (PHA2D) KLHL3 [HSA:26249] [KO:K10443] (PHA2E) CUL3 [HSA:8452] [KO:K03869] |
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H00244 | Pseudohypoparathyroidism | Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype ... | Endocrine and metabolic disease |
(PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632] (PHP1B) STX16 [HSA:8675] [KO:K08489] (PHP1B) GNAS-AS1 [HSA:149775] |
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H00245 | Calcium sensing receptor (CASR) related disease | The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function ... | Inherited metabolic disorder | CASR [HSA:846] [KO:K04612] | |
H00251 |
Thyroid dyshormonogenesis Dyshormogenetic goiter |
Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... | Endocrine and metabolic disease |
(TDH1) SLC5A5 [HSA:6528] [KO:K14385] (TDH2A) TPO [HSA:7173] [KO:K00431] (TDH2B/PDS) SLC26A4 [HSA:5172] [KO:K14702] (TDH2B) FOXI1 [HSA:2299] [KO:K09401] (TDH3) TG [HSA:7038] [KO:K10809] (TDH4) IYD [HSA:389434] [KO:K17231] (TDH5) DUOXA2 [HSA:405753] [KO:K17232] (TDH6) DUOX2 [HSA:50506] [KO:K13411] |
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H00255 | Hypogonadotropic hypogonadism | ... congenital or acquired. Congenital HH is clinically and genetically heterogeneous. Clinically, the disorder is characterized by an absence of puberty and infertility. The genetic condition is classically ... | Endocrine and metabolic disease |
(HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413] (HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362] (HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380] (HH4/KAL4) PROK2 [HSA:60675] [KO:K24191] (HH5/KAL5) CHD7 [HSA:55636] [KO:K14437] (HH6/KAL6) FGF8 [HSA:2253] [KO:K04358] (HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280] (HH8) KISS1R [HSA:84634] [KO:K08374] (HH9) NSMF [HSA:26012] [KO:K23844] (HH10) TAC3 [HSA:6866] [KO:K05240] (HH11) TACR3 [HSA:6870] [KO:K04224] (HH12) GNRH1 [HSA:2796] [KO:K05252] (HH13) KISS1 [HSA:3814] [KO:K23140] (HH14) WDR11 [HSA:55717] [KO:K24260] (HH15) HS6ST1 [HSA:9394] [KO:K02514] (HH16) SEMA3A [HSA:10371] [KO:K06840] (HH17) SPRY4 [HSA:81848] [KO:K17385] (HH18) IL17RD [HSA:54756] [KO:K05167] (HH19) DUSP6 [HSA:1848] [KO:K21946] (HH20) FGF17 [HSA:8822] [KO:K04358] (HH21) FLRT3 [HSA:23767] [KO:K16362] (HH22) FEZF1 [HSA:389549] [KO:K24502] (HH23/FEUNS) LHB [HSA:3972] [KO:K08521] (HH24/IFSHD) FSHB [HSA:2488] [KO:K05250] (HH25) NDNF [HSA:79625] [KO:K25687] (HH26) TCF12 [HSA:6938] [KO:K15603] (HH27) NHLH2 [HSA:4808] [KO:K09075] |
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H00257 |
Achalasia Addisonianism Alacrima syndrome Triple A syndrome Allgrove syndrome |
Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by ... | Endocrine and metabolic disease |
(AAA) AAAS [HSA:8086] [KO:K14320] (AAMR) GMPPA [HSA:29926] [KO:K00966] |
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H00258 |
Aldosterone synthase deficiency Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency |
Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone ... | Endocrine and metabolic disease | CYP11B2 [HSA:1585] [KO:K07433] | |
H00261 |
Meckel syndrome Meckel-Gruber syndrome |
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet. | Congenital malformation |
(MKS1) MKS1 [HSA:54903] [KO:K19332] (MKS2) TMEM216 [HSA:51259] [KO:K19385] (MKS3) TMEM67 [HSA:91147] [KO:K19348] (MKS4) CEP290 [HSA:80184] [KO:K16533] (MKS5) RPGRIP1L [HSA:23322] [KO:K16550] (MKS6) CC2D2A [HSA:57545] [KO:K19352] (MKS7) NPHP3 [HSA:27031] [KO:K19360] (MKS8) TCTN2 [HSA:79867] [KO:K19361] (MKS9) B9D1 [HSA:27077] [KO:K16744] (MKS10) B9D2 [HSA:80776] [KO:K16745] (MKS11) TMEM231 [HSA:79583] [KO:K19362] (MKS12) KIF14 [HSA:9928] [KO:K17915] (MKS13) TMEM107 [HSA:84314] [KO:K22764] (MKS14) TXNDC15 [HSA:79770] [KO:K25389] |
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H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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H00265 | Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly ... | Nervous system disease |
(HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654] (HSAN1C) SPTLC2 [HSA:9517] [KO:K00654] (HSAN2A) WNK1 [HSA:65125] [KO:K08867] (HSAN2B) FAM134B [HSA:54463] [KO:K23880] (HSAN2C) KIF1A [HSA:547] [KO:K10392] (HSAN2D) SCN9A [HSA:6335] [KO:K04841] (HSAN3) IKBKAP [HSA:8518] [KO:K11373] (HSAN4) NTRK1 [HSA:4914] [KO:K03176] (HSAN5) NGFB [HSA:4803] [KO:K02582] (HSAN6) DST [HSA:667] [KO:K10382] (HSAN7) SCN11A [HSA:11280] [KO:K04843] (HSAN8) PRDM12 [HSA:59335] [KO:K24255] (HSAN9) TECPR2 [HSA:9895] [KO:K23881] (HSN1D) ATL1 [HSA:51062] [KO:K17339] (HSN1E) DNMT1 [HSA:1786] [KO:K00558] (HSN1F) ATL3 [HSA:25923] [KO:K17339] |
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H00266 | Hereditary spastic paraplegia | Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. | Nervous system disease |
(SPG1) L1CAM [HSA:3897] [KO:K06550] (SPG2) PLP1 [HSA:5354] [KO:K17271] (SPG3) ATL1 [HSA:51062] [KO:K17339] (SPG4) SPAST [HSA:6683] [KO:K13254] (SPG5) CYP7B1 [HSA:9420] [KO:K07430] (SPG6) NIPA1 [HSA:123606] [KO:K19364] (SPG7) SPG7 [HSA:6687] [KO:K09552] (SPG8) WASHC5 [HSA:9897] [KO:K18464] (SPG9) ALDH18A1 [HSA:5832] [KO:K12657] (SPG10) KIF5A [HSA:3798] [KO:K10396] (SPG11) SPG11 [HSA:80208] [KO:K19026] (SPG12) RTN2 [HSA:6253] [KO:K20722] (SPG13) HSPD1 [HSA:3329] [KO:K04077] (SPG15) ZFYVE26 [HSA:23503] [KO:K19027] (SPG17) BSCL2 [HSA:26580] [KO:K19365] (SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341] (SPG20) SPART [HSA:23111] [KO:K19366] (SPG21) SPG21 [HSA:51324] [KO:K19367] (SPG23) DSTYK [HSA:25778] [KO:K16288] (SPG26) B4GALNT1 [HSA:2583] [KO:K00725] (SPG28) DDHD1 [HSA:80821] [KO:K13619] (SPG30) KIF1A [HSA:547] [KO:K10392] (SPG31) REEP1 [HSA:65055] [KO:K17338] (SPG33) ZFYVE27 [HSA:118813] [KO:K19368] (SPG35) FA2H [HSA:79152] [KO:K19703] (SPG39) PNPLA6 [HSA:10908] [KO:K14676] (SPG42) SLC33A1 [HSA:9197] [KO:K03372] (SPG43) C19orf12 [HSA:83636] [KO:K23168] (SPG44) GJC2 [HSA:57165] [KO:K07619] (SPG45) NT5C2 [HSA:22978] [KO:K01081] (SPG46) GBA2 [HSA:57704] [KO:K17108] (SPG47) AP4B1 [HSA:10717] [KO:K12401] (SPG48) AP5Z1 [HSA:9907] [KO:K19025] (SPG49) TECPR2 [HSA:9895] [KO:K23881] (SPG50) AP4M1 [HSA:9179] [KO:K12402] (SPG51) AP4E1 [HSA:23431] [KO:K12400] (SPG52) AP4S1 [HSA:11154] [KO:K12403] (SPG53) VPS37A [HSA:137492] [KO:K12185] (SPG54) DDHD2 [HSA:23259] [KO:K16545] (SPG55) MTRFR [HSA:91574] [KO:K23498] (SPG56) CYP2U1 [HSA:113612] [KO:K07422] (SPG57) TFG [HSA:10342] [KO:K09292] (SPG61) ARL6IP1 [HSA:23204] [KO:K24864] (SPG62) ERLIN1 [HSA:10613] [KO:K23341] (SPG63) AMPD2 [HSA:271] [KO:K01490] (SPG64) ENTPD1 [HSA:953] [KO:K01510] (SPG70) MARS1 [HSA:4141] [KO:K01874] (SPG72A/72B) REEP2 [HSA:51308] [KO:K17338] (SPG73) CPT1C [HSA:126129] [KO:K19524] (SPG74) IBA57 [HSA:200205] [KO:K22073] (SPG75) MAG [HSA:4099] [KO:K06771] (SPG76) CAPN1 [HSA:823] [KO:K01367] (SPG77) FARS2 [HSA:10667] [KO:K01889] (SPG78) ATP13A2 [HSA:23400] [KO:K13526] (SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611] (SPG80) UBAP1 [HSA:51271] [KO:K24629] (SPG81) SELENOI [HSA:85465] [KO:K00993] (SPG82) PCYT2 [HSA:5833] [KO:K00967] (SPG83) HPDL [HSA:84842] [KO:K24788] (SPG84) PI4KA [HSA:5297] [KO:K00888] (SPG85) RNF170 [HSA:81790] [KO:K15707] (SPG86) ABHD16A [HSA:7920] [KO:K25824] (SPG87) TMEM63C [HSA:57156] [KO:K21989] (SPG88) KPNA3 [HSA:3839] [KO:K23583] (SPG89) AMFR [HSA:267] [KO:K10636] (SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384] (SPG91) SPTAN1 [HSA:6709] [KO:K06114] (SPG92) FICD [HSA:11153] [KO:K04095] (SPG93) NFU1 [HSA:27247] [KO:K22074] |
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