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Entry Name Description Category Pathway Gene
H00102 Classic complement pathway component defects ... account for the more common type of complement deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most ... Primary immunodeficiency (C1QD1) C1QA [HSA:712] [KO:K03986]
(C1QD2) C1QB [HSA:713] [KO:K03987]
(C1QD3) C1QC [HSA:714] [KO:K03988]
(C1SD) C1S [HSA:716] [KO:K01331]
(C2D) C2 [HSA:717] [KO:K01332]
(C3D) C3 [HSA:718] [KO:K03990]
(C4AD) C4A [HSA:720] [KO:K03989]
(C4BD) C4B [HSA:721] [KO:K03989]
H00104 Alternative complement pathway component defects ... Hydrolyzed C3Bb is responsible for a constant low level of C3 cleavage into C3b. If C3b binds to an appropriate surface, factor B will bind with C3b to form C3bBb, a highly efficient C3-cleaving enzyme. This ... Primary immunodeficiency (CFBD) CFB [HSA:629] [KO:K01335]
(CFDD) CFD [HSA:1675] [KO:K01334]
(CFHD) CFH [HSA:3075] [KO:K04004]
(CFPD) CFP [HSA:5199] [KO:K15412]
H00106 Complement regulatory protein defects ... (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within the Factor I gene ... Primary immunodeficiency SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
CFI [HSA:3426] [KO:K01333]
CD55 [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
H00107 Other well-defined immunodeficiency syndromes ... (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions of the WAS gene have ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00108 Autoimmune lymphoproliferative syndromes Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes ... Primary immunodeficiency (ALPS1A) FAS [HSA:355] [KO:K04390]
(ALPS1B) FASLG [HSA:356] [KO:K04389]
(ALPS2A) CASP10 [HSA:843] [KO:K04400]
(ALPS2B) CASP8 [HSA:841] [KO:K04398]
(ALPS3) PRKCD [HSA:5580] [KO:K06068]
(ALPS4) NRAS [HSA:4893] [KO:K07828]
(ALPS5) CTLA4 [HSA:1493] [KO:K06538]
H00109 Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder with uncontrolled activation of T cells and macrophages (hemophagocytic activation) that infiltrate into liver, spleen ... Primary immunodeficiency (FHL2) PRF1 [HSA:5551] [KO:K07818]
(FHL3) UNC13D [HSA:201294] [KO:K19728]
(FHL4) STX11 [HSA:8676] [KO:K08487]
(FHL5) STXBP2 [HSA:6813] [KO:K15300]
(FHL6) RC3H1 [HSA:149041] [KO:K15690]
H00111 Typhoid fever ... serovar Typhi is a systemic febrile disease and endemic disease in many areas of the world, mainly in developing countries. Typhoid is transmitted through ingestion of contaminated water or food and characterized ... Bacterial infectious disease hsa05132 Salmonella infection
H00112 Paratyphoid fever Paratyphoid fever is a systemic febrile illness endemic in developing countries where sanitation is lacking and access to clean water is reduced. The disease is similar to typhoid fever [DS:H00111] but ... Bacterial infectious disease
H00118 Congenital disorders of glycosylation type I ... precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum. An increasing number of disorders have been discovered, with many subtypes identified ... Inherited metabolic disorder (CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
(CDG-Ibb) DHDDS [HSA:79947] [KO:K11778]
(CDG-Icc) MAGT1 [HSA:84061] [KO:K19478]
H00119 Congenital disorders of glycosylation type II ... genes encoding enzymes in the processing of N-glycans on the glycosylated proteins either late in the endoplasmic reticulum or the Golgi compartments. Multiple subtypes have been identified although the numbers ... Inherited metabolic disorder (CDG2A) MGAT2 [HSA:4247] [KO:K00736]
(CDG2B) GCS1 [HSA:7841] [KO:K01228]
(CDG2C) SLC35C1 [HSA:55343] [KO:K15279]
(CDG2D) B4GALT1 [HSA:2683] [KO:K07966]
(CDG2E) COG7 [HSA:91949] [KO:K20294]
(CDG2F) SLC35A1 [HSA:10559] [KO:K15272]
(CDG2G) COG1 [HSA:9382] [KO:K20288]
(CDG2H) COG8 [HSA:84342] [KO:K20295]
(CDG2I) COG5 [HSA:10466] [KO:K20292]
(CDG2J) COG4 [HSA:25839] [KO:K20291]
(CDG2K) TMEM165 [HSA:55858] [KO:K23541]
(CDG2L) COG6 [HSA:57511] [KO:K20293]
(CDG2M) SLC35A2 [HSA:7355] [KO:K15272]
(CDG2N) SLC39A8 [HSA:64116] [KO:K14714]
(CDG2O) CCDC115 [HSA:84317] [KO:K23543]
(CDG2P) TMEM199 [HSA:147007] [KO:K23542]
(CDG2Q) COG2 [HSA:22796] [KO:K20289]
(CDG2R) ATP6AP2 [HSA:10159] [KO:K19514]
(CDG2S) ATP6AP1 [HSA:537] [KO:K03662]
(CDG2T) GALNT2 [HSA:2590] [KO:K00710]
(CDG2V) EDEM3 [HSA:80267] [KO:K10086]
(CDG2W) SLC37A4 [HSA:2542] [KO:K08171]
(CDG2Y) GET4 [HSA:51608] [KO:K23387]
(CDG2Z) CAMLG [HSA:819] [KO:K22385]
(CDG2AA) STX5 [HSA:6811] [KO:K08490]
(CDG2BB) COG3 [HSA:83548] [KO:K20290]
H00120 Muscular dystrophy-dystroglycanopathy type A 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 ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00123 Mucopolysaccharidosis type IV Mucopolysaccharidosis type IV (MPS4) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the enzyme genes involved in glycosaminoglycan degradation. The defect results in ... Inherited metabolic disorder, Lysosomal disease (MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [HSA:2720] [KO:K12309]
H00127 Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MLD) ARSA [HSA:410] [KO:K01134]
(MLDSAPB) PSAP [HSA:5660] [KO:K12382]
H00128 Mucopolysaccharidosis type I
Hurler-Scheie syndrome
Hurler syndrome
Scheie syndrome 		Mucopolysaccharidosis type I (MPS1) is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase in glycosaminoglycan degradation. The enzyme defect results ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
H00129 Mucopolysaccharidosis type II
Hunter syndrome 		Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation ... Inherited metabolic disorder, Lysosomal disease (MPS2) IDS [HSA:3423] [KO:K01136]
H00130 Mucopolysaccharidosis type III Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results ... Inherited metabolic disorder, Lysosomal disease (MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
H00131 Mucopolysaccharidosis type VI
Maroteaux-Lamy syndrome 		Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in ... Inherited metabolic disorder, Lysosomal disease (MPS6) ARSB [HSA:411] [KO:K01135]
H00132 Mucopolysaccharidosis type VII
Sly syndrome 		Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results ... Inherited metabolic disorder, Lysosomal disease (MPS7) GUSB [HSA:2990] [KO:K01195]
H00133 Mucopolysaccharidosis type IX
Hyaluronidase deficiency 		Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase. Inherited metabolic disorder, Lysosomal disease (MPS9) HYAL1 [HSA:3373] [KO:K01197]
H00135 Krabbe disease
Globoid cell leukodystrophy 		Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase. Inherited metabolic disorder, Lysosomal disease (KRB) GALC [HSA:2581] [KO:K01202]
(KRBSAPA) PSAP [HSA:5660] [KO:K12382]
H00139 alpha-Mannosidosis ... autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides ... Inherited metabolic disorder, Lysosomal disease MAN2B1 [HSA:4125] [KO:K12311]
H00140 beta-Mannosidosis ... behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly. Inherited metabolic disorder, Lysosomal disease MANBA [HSA:4126] [KO:K01192]
H00141 Fucosidosis ... The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe ... Inherited metabolic disorder, Lysosomal disease FUCA1 [HSA:2517] [KO:K01206]
H00142 Sialidosis
Mucolipidosis I 		... activity of sialidase (neuraminidase). The enzymatic defect results in the accumulation of sialidated glycopeptides and oligosaccharides in many organs. The disease is classified into two types: type 1 for the ... Inherited metabolic disorder, Lysosomal disease NEU1 [HSA:4758] [KO:K01186]
H00143 Mucolipidosis II
I-cell disease 		... is multimeric enzyme involved in phosphotransfer of UDP-N-acetylglucosamine to lysosomal enzymes (glycoproteins). It is the necessary process for the transport of newly synthesized lysosomal proteins to ... Inherited metabolic disorder, Lysosomal disease GNPTAB [HSA:79158] [KO:K08239]
H00144 Mucolipidosis IV ... recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. ML IV is caused by mutations in mucolipin 1 (MCOLN1), a late endosomal/lysosomal ... Inherited metabolic disorder, Lysosomal disease MCOLN1 [HSA:57192] [KO:K04992]
H00145 Aspartylglucosaminuria ... aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00147 Sialuria ... with infantile onset, while the SD has a milder phenotype with later onset. Both disorders cause developmental delay, and ISSD is generally fatal in early childhood. The differential diagnosis of free sialic ... Inherited metabolic disorder, Lysosomal disease (SD, ISSD) SLC17A5 [HSA:26503] [KO:K12301]
(French type) GNE [HSA:10020] [KO:K12409]
H00148 Lysosomal acid lipase deficiency ... hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the ... Inherited metabolic disorder, Lysosomal disease LIPA [HSA:3988] [KO:K01052]
H00149 Neuronal ceroid lipofuscinosis ... intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital ... Inherited metabolic disorder, Lysosomal disease (CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN4A/6) CLN6 [HSA:54982] [KO:K12359]
(CLN4B) DNAJC5 [HSA:80331] [KO:K09525]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN7) MSFD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(CLN11) GRN [HSA:2896] [KO:K23879]
(CLN12) ATP13A2 [HSA:23400] [KO:K13526]
(CLN13) CTSF [HSA:8722] [KO:K01373]
(CLN14) KCTD7 [HSA:154881] [KO:K21917]
H00150 Danon disease
X-linked vacuolar cardiomyopathy and myopathy 		... disorder caused by deficiency of lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of ... Inherited metabolic disorder, Lysosomal disease LAMP2 [HSA:3920] [KO:K06528]
H00154 Hyperlipoproteinemia, type I Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ... Inherited metabolic disorder LPL [HSA:4023] [KO:K01059]
APOC2 [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia 		... hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB ... Inherited metabolic disorder (FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
H00156 Hyperlipoproteinemia, type III
Dysbetalipoproteinemia 		Hyperlipoproteinemia type III is an autosomal recessive disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E. Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H00157 Hyperlipoproteinemia, type V Type V hyperlipoproteinemia is a hereditary disorder characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast. It has been reported that mutations ... Inherited metabolic disorder APOA5 [HSA:116519] [KO:K09025]
H00158 Lecithin:cholesterol acyltransferase deficiency
Norum disease
Fish-eye disease 		... disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria. Inherited metabolic disorder LCAT [HSA:3931] [KO:K00650]
H00159 Tangier disease Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. Inherited metabolic disorder ABCA1 [HSA:19] [KO:K05641]
H00160 Abetalipoproteinemia
Bassen-Kornzweig Disease 		Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins. Inherited metabolic disorder MTTP [HSA:4547] [KO:K14463]
H00161 Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis. Inherited metabolic disorder (SLOS) DHCR7 [HSA:1717] [KO:K00213]
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