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Entry Name Description Category Pathway Gene
H00268 Lissencephaly Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. Congenital malformation (LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LIS9) MACF1 [HSA:23499] [KO:K19827]
(LIS10) CEP85L [HSA:387119] [KO:K16766]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
H00269 Primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. Congenital malformation (MCPH1) MCPH1 [HSA:79648] [KO:K19403]
(MCPH2) WDR62 [HSA:284403] [KO:K21762]
(MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542]
(MCPH4) KNL1 [HSA:57082] [KO:K11542]
(MCPH5) ASPM [HSA:259266] [KO:K16743]
(MCPH6) CENPJ [HSA:55835] [KO:K11502]
(MCPH7) STIL [HSA:6491] [KO:K16724]
(MCPH8) CEP135 [HSA:9662] [KO:K16461]
(MCPH9) CEP152 [HSA:22995] [KO:K16728]
(MCPH10) ZNF335 [HSA:63925] [KO:K24371]
(MCPH11) PHC1 [HSA:1911] [KO:K11456]
(MCPH12) CDK6 [HSA:1021] [KO:K02091]
(MCPH13) CENPE [HSA:1062] [KO:K11498]
(MCPH14) SASS6 [HSA:163786] [KO:K16487]
(MCPH15) MFSD2A [HSA:84879] [KO:K23894]
(MCPH16) ANKLE2 [HSA:23141] [KO:K21412]
(MCPH17) CIT [HSA:11113] [KO:K16308]
(MCPH18) WDFY3 [HSA:23001] [KO:K22262]
(MCPH19) COPB2 [HSA:9276] [KO:K17302]
(MCPH20) KIF14 [HSA:9928] [KO:K17915]
(MCPH21) NCAPD2 [HSA:9918] [KO:K06677]
(MCPH22) NCAPD3 [HSA:23310] [KO:K11491]
(MCPH23) NCAPH [HSA:23397] [KO:K06676]
(MCPH24) NUP37 [HSA:79023] [KO:K14302]
(MCPH25) TRAPPC14 [HSA:55262] [KO:K24261]
(MCPH26) LMNB1 [HSA:4001] [KO:K07611]
(MCPH27) LMNB2 [HSA:84823] [KO:K07611]
(MCPH28) RRP7A [HSA:27341] [KO:K14545]
(MCPH29) PDCD6IP [HSA:10015] [KO:K12200]
(MCPH30) BUB1 [HSA:699] [KO:K02178]
H00272 Multiple sulfatase deficiency Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal ... Inherited metabolic disorder, Lysosomal disease SUMF1 [HSA:285362] [KO:K13444]
H00273 Pycnodysostosis Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis ... Inherited metabolic disorder, Lysosomal disease CTSK [HSA:1513] [KO:K01371]
H00274 Papillon-Lefevre syndrome Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its ... Inherited metabolic disorder, Lysosomal disease CTSC [HSA:1075] [KO:K01275]
H00275 Cystinosis Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal ... Inherited metabolic disorder, Lysosomal disease CTNS [HSA:1497] [KO:K12386]
H00276 Galactosialidosis
Neuraminidase deficiency with beta-galactosidase deficiency 		Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase ... Inherited metabolic disorder, Lysosomal disease CTSA [HSA:5476] [KO:K13289]
H00281 GM1 gangliosidosis GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues ... Inherited metabolic disorder, Lysosomal disease GLB1 [HSA:2720] [KO:K12309]
H00288 Familial Mediterranean fever
Familial hereditary periodic fever syndromes 		... Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin ... Immune system disease MEFV [HSA:4210] [KO:K12803]
H00289 Recurrent hydatidiform moles
Familial biparental hydatidiform 		... world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar ... Reproductive system disease (HYDM) NALP7 [HSA:199713] [KO:K20864]
(HYDM2) KHDC3L [HSA:154288] [KO:K25076]
(HYDM3) MEI1 [HSA:150365] [KO:K25318]
(HYDM4) C11orf80 [HSA:79703] [KO:K24789]
H00292 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00296 Defects in RecQ helicases ... In humans, it is known that deficiencies in three of the five human RecQ helicases cause genetic disorders characterized by cancer predisposition, premature aging and developmental abnormalities. These ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00353 Lyme borreliosis
Lyme disease 		... infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) can occur as well. Late Lyme borreliosis usually manifests as arthritis ... Bacterial infectious disease
H00358 Chagas disease
American trypanosomiasis 		... in Latin American countries. Chagas disease is characterized by an acute phase followed by a chronic phase, with sustained inflammation that causes cardiomyopathy, digestive disorders, and neuropathies. Parasitic infectious disease hsa05142 Chagas disease
H00370 Progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy (PML) is a fatal neurological disorder characterized by destruction of oligodendrocytes by the JC polyomavirus that occurs in immunosuppressed individuals such ... Viral infectious disease
H00375 SBCAD deficiency
Short-branched-chain acyl-CoA dehydrogenase deficiency 		Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA ... Inherited metabolic disorder ACADSB [HSA:36] [KO:K09478]
H00392 VLCAD deficiency
Very long-chain acyl-CoA dehydrogenase deficiency 		Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious ... Inherited metabolic disorder ACADVL [HSA:37] [KO:K09479]
H00403 Disorders of nucleotide excision repair ... caused by mutations in ERCC8/CSA, ERCC6/CSB. CS is predominantly a developmental and neurological disorder. It results in a severely reduced lifespan but is not linked to an increased incidence of cancer ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00407 Peroxisomal beta-oxidation enzyme deficiency Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system ... Inherited metabolic disorder ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
H00417 Alstrom syndrome Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia ... Congenital malformation ALMS1 [HSA:7840] [KO:K16741]
H00418 Bardet-Biedl syndrome Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... Inherited metabolic disorder (BBS1) BBS1 [HSA:582] [KO:K16746]
(BBS2) BBS2 [HSA:583] [KO:K16747]
(BBS3) ARL6 [HSA:84100] [KO:K07951]
(BBS4) BBS4 [HSA:585] [KO:K16531]
(BBS5) BBS5 [HSA:129880] [KO:K16748]
(BBS6) MKKS [HSA:8195] [KO:K09492]
(BBS7) BBS7 [HSA:55212] [KO:K16749]
(BBS8) TTC8 [HSA:123016] [KO:K16781]
(BBS9) BBS9 [HSA:27241] [KO:K19398]
(BBS10) BBS10 [HSA:79738] [KO:K19401]
(BBS11) TRIM32 [HSA:22954] [KO:K10607]
(BBS12) BBS12 [HSA:166379] [KO:K19402]
(BBS13) MKS1 [HSA:54903] [KO:K19332]
(BBS14) CEP290 [HSA:80184] [KO:K16533]
(BBS15) WDPCP [HSA:51057] [KO:K22863]
(BBS16) SDCCAG8 [HSA:10806] [KO:K16488]
(BBS17) LZTFL1 [HSA:54585] [KO:K19400]
(BBS18) BBIP1 [HSA:92482] [KO:K19399]
(BBS19) IFT27 [HSA:11020] [KO:K07934]
(BBS20) IFT172 [HSA:26160] [KO:K19676]
(BBS21) CFAP418 [HSA:157657] [KO:K25226]
(BBS22) IFT74 [HSA:80173] [KO:K19679]
H00419 Congenital generalized lipodystrophy Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes ... Inherited metabolic disorder (CGL1) AGPAT2 [HSA:10555] [KO:K13509]
(CGL2) BSCL2 [HSA:26580] [KO:K19365]
(CGL3) CAV1 [HSA:857] [KO:K06278]
(CGL4) CAVIN1 [HSA:284119] [KO:K19387]
(CGL5) PCYT1A [HSA:5130] [KO:K00968]
H00420 Familial partial lipodystrophy Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00421 Mucopolysaccharidosis Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is ... Inherited metabolic disorder, Lysosomal disease (MPS1) IDUA [HSA:3425] [KO:K01217]
(MPS2) IDS [HSA:3423] [KO:K01136]
(MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
(MPS4A) GALNS [HSA:2588] [KO:K01132]
(MPS4B) GLB1 [HSA:2720] [KO:K12309]
(MPS6) ARSB [HSA:411] [KO:K01135]
(MPS7) GUSB [HSA:2990] [KO:K01195]
(MPS9) HYAL1 [HSA:3373] [KO:K01197]
(MPS10) ARSK [HSA:153642] [KO:K12376]
H00422 Glycoproteinoses Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... Inherited metabolic disorder, Lysosomal disease (Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186]
(Galactosialidosis) CTSA [HSA:5476] [KO:K13289]
(Galactosialidosis) GLB1 [HSA:2720] [KO:K12309]
(alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311]
(beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192]
(AGU) AGA [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]
H00423 Sphingolipidosis The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
GLB1 [HSA:2720] [KO:K12309]
GBA [HSA:2629] [KO:K01201]
ARSA [HSA:410] [KO:K01134]
GALC [HSA:2581] [KO:K01202]
SMPD1 [HSA:6609] [KO:K12350]
ASAH1 [HSA:427] [KO:K12348]
PSAP [HSA:5660] [KO:K12382]
SUMF1 [HSA:285362] [KO:K13444]
H00424 Defects in the degradation of sphingomyelin Defects in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by ... Inherited metabolic disorder, Lysosomal disease (NPD) SMPD1 [HSA:6609] [KO:K12350]
(Farber) ASAH1 [HSA:427] [KO:K12348]
H00425 Lysosomal cysteine protease deficiencies Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven ... Inherited metabolic disorder, Lysosomal disease (PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
H00426 Gangliosidosis Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes or their activators that play important roles in the degradation ... Inherited metabolic disorder, Lysosomal disease (GM1G) GLB1 [HSA:2720] [KO:K12309]
(GM2G1) HEXA [HSA:3073] [KO:K12373]
(GM2G2) HEXB [HSA:3074] [KO:K12373]
(GM2AB) GM2A [HSA:2760] [KO:K12383]
H00430 Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected ... Musculoskeletal disease ACVR1 [HSA:90] [KO:K04675]
H00431 Ossification of the posterior longitudinal ligament of spine Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior ... Musculoskeletal disease COL11A2 [HSA:1302] [KO:K19721]
ENPP1 [HSA:5167] [KO:K01513]
COL6A1 [HSA:1291] [KO:K06238]
TGFB3 [HSA:7043] [KO:K13377]
H00432 Hereditary dentine disorders Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506] ... Congenital malformation DSPP [HSA:1834] [KO:K23573]
H00433 Holt-Oram syndrome Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to ... Congenital malformation TBX5 [HSA:6910] [KO:K10179]
H00434 Camurati-Engelmann disease
Progressive diaphyseal dysplasia 		Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness ... Congenital malformation TGFB1 [HSA:7040] [KO:K13375]
H00436 Osteopetrosis The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00437 Paget disease of bone Paget disease of bone (PDB) are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation ... Musculoskeletal disease (PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592] [KO:K24375]
H00438 Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 		... sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile ... Inherited metabolic disorder (PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]
H00440 Rett syndrome Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical ... Nervous system disease MECP2 [HSA:4204] [KO:K11588]
FOXG1 [HSA:2290] [KO:K09385]
H00441 Progressive osseous heteroplasia Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone ... Musculoskeletal disease GNAS [HSA:2778] [KO:K04632]
H00443 Osteoglophonic dysplasia
Osteoglophonic dwarfism 		Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
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