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Entry Name Description Category Pathway Gene
H00085 Agammaglobulinemias ... deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias ... Immune system disease (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00086 Immunodeficiency with hyper-IgM ... deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (b), hyper-IgM syndrome (HIM) ... Immune system disease (HIGM1) CD40LG [HSA:959] [KO:K03161]
(HIGM2) AICDA [HSA:57379] [KO:K10989]
(HIGM3) CD40 [HSA:958] [KO:K03160]
(HIGM5) UNG [HSA:7374] [KO:K03648]
H00088 Common variable immunodeficiency ... deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00090 NK cell defects ... absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also had severe clinical problems after BCG vaccination. Primary immunodeficiency FCGR3A [HSA:2214] [KO:K06463]
H00092 T-B-Severe combined immunodeficiency ... differentiation, along with direct or indirect impairment of B-cell development and function. Adenosine deaminase (ADA) deficiency accounts for about half of the autosomal recessive forms of SCIDs. It is one of ... Primary immunodeficiency ADA [HSA:100] [KO:K01488]
RAG1 [HSA:5896] [KO:K10628]
RAG2 [HSA:5897] [KO:K10988]
DCLRE1C [HSA:64421] [KO:K10887]
AK2 [HSA:204] [KO:K00939]
(IMD26) PRKDC [HSA:5591] [KO:K06642]
(IMD58) CARMIL2 [HSA:146206] [KO:K20493]
(IMD121) PSMB10 [HSA:5699] [KO:K02733]
H00094 Immunodeficiency associated with DNA repair defects ... immunodeficient individual who suffered recurrent sinopulmonary infection leading to bronchiectasis. A non-inactivating mutational change in DNA ligase IV has also been identified in a leukaemia patient, who ... Primary immunodeficiency ATM [HSA:472] [KO:K04728]
MRE11A [HSA:4361] [KO:K10865]
NBS1(Nibrin) [HSA:4683] [KO:K10867]
LIG1 [HSA:3978] [KO:K10747]
LIG4 [HSA:3981] [KO:K10777]
BLM [HSA:641] [KO:K10901]
MCM4 [HSA:4173] [KO:K02212]
(LICS) NSMCE3 [HSA:56160] [KO:K22823]
H00095 Ectodermal dysplasia and immunodeficiency ... mutations in NEMO, which is located on the X chromosome and encodes IKK-gamma. A novel autosomal dominant of EDA-ID, recently identified in one child, was found to be caused by a hypermorphic mutation ... Immune system disease (EDAID1) IKBKG [HSA:8517] [KO:K07210]
(EDAID2) NFKBIA [HSA:4792] [KO:K04734]
H00096 Defects of toll-like receptor signaling Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon ... Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00098 Chronic granulomatous disease ... characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria ... Primary immunodeficiency (CGDX) CYBB [HSA:1536] [KO:K21421]
(CGD1) NCF1 [HSA:653361] [KO:K08011]
(CGD3) NCF2 [HSA:4688] [KO:K08010]
(CGD3) NCF4 [HSA:4689] [KO:K08012]
(CGD4) CYBA [HSA:1535] [KO:K08009]
(CGD5) CYBC1 [HSA:79415] [KO:K25863]
H00099 Leukocyte adhesion deficiency ... interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00100 Neutropenic disorders ... growth factor-independent 1 (GFI1) gene are also associated with SCN. In patients with autosomal dominant cyclic neutropenia (CyN), a condition with oscillating neutrophil counts but less severe clinical ... Primary immunodeficiency (SCN1) ELANE [HSA:1991] [KO:K01327]
(SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223]
(SCN3) HAX1 [HSA:10456] [KO:K16220]
(SCN4) G6PC3 [HSA:92579] [KO:K01084]
(SCN5) VPS45 [HSA:11311] [KO:K12479]
(SCN6) JAGN1 [HSA:84522] [KO:K25789]
(SCN7) CSF3R [HSA:1441] [KO:K05061]
(SCN8) SRP54 [HSA:6729] [KO:K03106]
(SCN9) CLPB [HSA:81570] [KO:K03695]
(SCN10) SRP68 [HSA:6730] [KO:K03107]
(SCN11) SEC61A1 [HSA:29927] [KO:K10956]
(SCNX) WAS [HSA:7454] [KO:K05747]
H00103 Late complement pathway defects Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly ... Primary immunodeficiency (C5D) C5 [HSA:727] [KO:K03994]
(C6D) C6 [HSA:729] [KO:K03995]
(C7D) C7 [HSA:730] [KO:K03996]
(C8D1) C8A [HSA:731] [KO:K03997]
(C8D2) C8B [HSA:732] [KO:K03998]
(C9D) C9 [HSA:735] [KO:K04000]
C8G [HSA:733] [KO:K03999]
H00107 Other well-defined immunodeficiency syndromes ... with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result ... 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]
H00110 Cholera ... also to the O139 serogroup. Seven cholera pandemics have occurred since 1817, with six pandemics originating in India and the seventh pandemic originating in Indonesia in 1961. The last outbreak is dominated ... Bacterial infectious disease hsa05110 Vibrio cholerae infection
H00111 Typhoid fever ... areas of the world, mainly in developing countries. Typhoid is transmitted through ingestion of contaminated water or food and characterized by a variable incubation period ranging from three days to one ... Bacterial infectious disease hsa05132 Salmonella infection
H00113 Salmonellosis ... Salmonellosis is one of the most frequently occurring food-borne diseases worldwide. Foods prepared with contaminated raw eggs, egg products, and insufficiently heated meat have been identified as the primary sources ... Bacterial infectious disease
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]
H00137 Niemann-Pick disease type A/B ... disease (NPD) is an autosomal recessive lysosomal storage disorder caused by deficient acid sphingomyelinase (ASM) activity, resulting in accumulation of sphingomyelin and cholesterol in many organs. ASM ... Inherited metabolic disorder, Lysosomal disease SMPD1 [HSA:6609] [KO:K12350]
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]
H00145 Aspartylglucosaminuria ... enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite ... Inherited metabolic disorder, Lysosomal disease AGA [HSA:175] [KO:K01444]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00150 Danon disease
X-linked vacuolar cardiomyopathy and myopathy 		... lysosomal-associated membrane protein Lamp2 and resulting in cardiomyopathy, myopathy, and mental retardation. Originally Danon disease was classificatied as a variant of glycogen storage disease II (Pompe disease). ... Inherited metabolic disorder, Lysosomal disease LAMP2 [HSA:3920] [KO:K06528]
H00152 Sitosterolemia ... disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols. Inherited metabolic disorder (STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia 		Familial 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 ... 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]
H00169 Ocular albinism
Ocular albinism type I (OA1)
Waardenburg syndrome type II (WS2-OA) 		... disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal dominant ocular albinism. Inherited metabolic disorder (OA1) GPR143 [HSA:4935] [KO:K08470]
(WS2A) MITF [HSA:4286] [KO:K09455]
H00177 Neonatal adrenoleukodystrophy ... course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Inherited metabolic disorder, Peroxisomal disease (PBD1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10B) PEX3 [HSA:8504] [KO:K13336]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
H00185 Citrullinemia Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. Inherited metabolic disorder (CTLN1) ASS1 [HSA:445] [KO:K01940]
(CTLN2) SLC25A13 [HSA:10165] [KO:K15105]
H00186 Hyperargininemia Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy. Inherited metabolic disorder ARG1 [HSA:383] [KO:K01476]
H00189 Ornithinaemia
Gyrate Atrophy 		Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy. Inherited metabolic disorder OAT [HSA:4942] [KO:K00819]
H00190 Hyperprolinemia ... ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in ... Inherited metabolic disorder (HYRPRO1) PRODH [HSA:5625] [KO:K00318]
(HYRPRO2) ALDH4A1 [HSA:8659] [KO:K00294]
H00192 Xanthinuria ... characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2). Patients with ... Inherited metabolic disorder (XAN1) XDH [HSA:7498] [KO:K00106]
(XAN2) MOCOS [HSA:55034] [KO:K15631]
H00197 Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures. Inherited metabolic disorder ADSL [HSA:158] [KO:K01756]
H00199 Dihydropyrimidinase deficiency
Dihydropyrimidinuria 		Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation. Inherited metabolic disorder DPYS [HSA:1807] [KO:K01464]
H00201 Erythropoietic porphyria ... porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: ... 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]
H00204 Heimler syndrome ... sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome ... Inherited metabolic disorder, Peroxisomal disease (HMLR1) PEX1 [HSA:5189] [KO:K13338]
(HMLR2) PEX6 [HSA:5190] [KO:K13339]
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]
H00208 Hyperbilirubinemia ... test results are normal, aside from the primarily conjugated hyperbilirubinemia. The hepatocyte pigment deposits are typical of DJS. Total urinary excretion of coproporphyrins is greatly increased in RS. 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]
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]
H00213 Hypophosphatasia ... activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits. Inherited metabolic disorder ALPL [HSA:249] [KO:K01077]
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