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Entry Name Description Category Pathway Gene
H00833 Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as ... Nervous system disease (NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) C19orf12 [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
(NBIA9) FTH1 [HSA:2495] [KO:K00522]
H01722 Galloway-Mowat syndrome Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies ... Congenital malformation (GAMOS1) WDR73 [HSA:84942] [KO:K24754]
(GAMOS2) LAGE3 [HSA:8270] [KO:K15902]
(GAMOS3) OSGEP [HSA:55644] [KO:K01409]
(GAMOS4) TP53RK [HSA:112858] [KO:K08851]
(GAMOS5) TPRKB [HSA:51002] [KO:K15901]
(GAMOS6) WDR4 [HSA:10785] [KO:K15443]
(GAMOS7) NUP107 [HSA:57122] [KO:K14301]
(GAMOS8) NUP133 [HSA:55746] [KO:K14300]
(GAMOS9) GON7 [HSA:84520] [KO:K15903]
(GAMOS10) YRDC [HSA:79693] [KO:K07566]
H02132 Microcephaly syndrome Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... Congenital malformation (MCPHSBA) MED17 [HSA:9440] [KO:K15133]
(MSCCA) QARS [HSA:5859] [KO:K01886]
(MCCPD) MSMO1 [HSA:6307] [KO:K07750]
(MEDS1) IER3IP1 [HSA:51124] [KO:K22939]
(MEDS2) YIPF5 [HSA:81555] [KO:K20363]
(MIMIS) DONSON [HSA:29980] [KO:K22422]
(MSSP) RTTN [HSA:25914] [KO:K16484]
(MFRG) CTU2 [HSA:348180] [KO:K14169]
(MCIDDS) KCNA4 [HSA:3739] [KO:K04877]
(MIGSB) WDR4 [HSA:10785] [KO:K15443]
(MDBH) CARS1 [HSA:833] [KO:K01883]
H02470 Neurodevelopmental disorder with structural brain abnormalities Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... Congenital malformation (NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
(NEDCHS) INTS8 [HSA:55656] [KO:K13145]
(NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
(NEDEHCC) LNPK [HSA:80856] [KO:K23292]
(NEDBAS) DLL1 [HSA:28514] [KO:K06051]
(NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(NEDVIBA) HK1 [HSA:3098] [KO:K00844]
(NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
(NECFM) NACC1 [HSA:112939] [KO:K10486]
(NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
(NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
(NEDABA) ODC1 [HSA:4953] [KO:K01581]
(NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
(NEDASB) NOVA2 [HSA:4858] [KO:K14944]
(NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
(NEDSCAC) MED27 [HSA:9442] [KO:K15170]
(NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
(NEDHSB) SPATA5 [HSA:166378] [KO:K14575]
(NEDMLHB) TAF8 [HSA:129685] [KO:K14649]
(NEDSSBA) NSRP1 [HSA:84081] [KO:K13206]
(NEDMLOB) INTS11 [HSA:54973] [KO:K13148]
(NEDMSB) PI4K2A [HSA:55361] [KO:K13711]
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