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Entry Name Description Category Pathway Gene
H00191 Nonketotic hyperglycinemia
Glycine encephalopathy (GCE) 		Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic ... Inherited metabolic disorder (GCE1) GLDC [HSA:2731] [KO:K00281]
(GCE2) AMT [HSA:275] [KO:K00605]
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]
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]
H00615 Amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... Congenital malformation (AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]
H00662 Ectopia lentis Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is ... Congenital malformation (ECTOL1) FBN1 [HSA:2200] [KO:K06825]
(ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369]
H00673 Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of ... Congenital malformation (WMS1) ADAMTS10 [HSA:81794] [KO:K08625]
(WMS2) FBN1 [HSA:2200] [KO:K06825]
(WMS3) LTBP2 [HSA:4053] [KO:K08023]
(WMS4) ADAMTS17 [HSA:170691] [KO:K08631]
H00811 Distal arthrogryposis Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA ... Congenital malformation (DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA1C) MYL11 [HSA:29895] [KO:K12758]
(DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220]
(DA2B1) TNNI2 [HSA:7136] [KO:K12043]
(DA2B2) TNNT3 [HSA:7140] [KO:K12046]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K24220]
(DA9) FBN2 [HSA:2201] [KO:K23342]
(DA11) MET [HSA:4233] [KO:K05099]
(DA12) ADAMTS15 [HSA:170689] [KO:K08629]
H00834 Guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a ... Inherited metabolic disorder GAMT [HSA:2593] [KO:K00542]
H00849 Cerebral creatine deficiency syndrome Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency ... Inherited metabolic disorder (CCDS1) SLC6A8 [HSA:6535] [KO:K05041]
(CCDS2) GAMT [HSA:2593] [KO:K00542]
(CCDS3) GATM [HSA:2628] [KO:K00613]
H00900 Geleophysic dysplasia Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, ... Congenital malformation (GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430]
(GPHYSD2) FBN1 [HSA:2200] [KO:K06825]
(GPHYSD3) LTBP3 [HSA:4054] [KO:K08023]
H02169 Hennekam lymphangiectasia-lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1 ... Congenital malformation (HKLLS1) CCBE1 [HSA:147372] [KO:K19638]
(HKLLS2) FAT4 [HSA:79633] [KO:K16669]
(HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619]
H02244 Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome type VIIC 		... type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase. Congenital malformation (EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618]
H02273 Nonprogressive cerebellar ataxia with mental retardation ... of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients. Nervous system disease CAMTA1 [HSA:23261] [KO:K21596]
H02375 Cardiac valvular dysplasia Cardiac valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported Congenital malformation (CVDP1) PLD1 [HSA:5337] [KO:K01115]
(CVDP2) ADAMTS19 [HSA:171019] [KO:K08633]
H02445 Microcornea, myopic chorioretinal atrophy, and telecanthus Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular ... Congenital malformation ADAMTS18 [HSA:170692] [KO:K08632]
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