Ciliopathies (Homo sapiens)

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1Vesicular traffickingDisease groupsGolgiLIFT:Lipidated cargotrafficting machineryCiliary traffickingBasal bodytraffickingIFT dynein subunitsDistal appendageOuter dynein arm,inner dynein armEarly ciliogenesisCilium tip(3) BrainPlasma membraneBasal bodyCiliopathy proteins: Motility apparatusMotile cilium structureCentral pair(1) Cilia motility, respiratory, brain,heart, organ placement, spermOther: cytosol, Golgi, nucleus, etc.Cilium tip INV compartmentTranscription factorCentriole or basal bodyAxoneme and signallingGLI2ADCY6ANKS3DCDC2EFHC1C21orf2C2orf71CNGB1CNGA1CEP41ANKS6PKD1PKD2SMOPIK3R4OCRLNEK1LCA5IQCB1INPP5EICKGPR161FLCNUSP9XSDCCAG8RAB23PKHD1PKD1L1CEP104GLI3NEK8SUFUKIF7CRXNPHP3INVSEVC2EVCZIC2ALMS1AK7XPNPEP3TBC1D32POMGNT1PIK3R4GLIS2GALNT11DDX59ZNF423Primary ciliary dyskinesia (PCD)Bardet-Biedl syndrome (BBS)Carpenter syndrome (CRPT)Hydrolethalus syndrome (HLS)OMIM:135150 Birt-Hogg-Dube syndromeHoloprosencephaly (HPE)Senior-Loken syndrome (SLSN)OMIM:146510 Pallister-Hall syndrome (PHS)MORM syndromeMeckel syndrome (MKS)Oculocerebrorenal syndrome (OCRL)Hydrolethalus syndrome (HLS)OMIM:309000 Lowe syndrome (OCRL)Joubert syndrome (JBTS)(2) Multi-systemic (primary cilia),brain, kidney, skeleton, eyesOMIM:107200 Anosmia, isolated congenitalPolycystic kidney disease (PKD)Nephronophthisis (NPHP)Retinitis pigmentosa (RP)Cone-rod dysrtophy (CRD)OMIM:155255 MedulloblastomaLeber congenital amaurosis (LCA)OMIM:254770 Juvenile myoclonic epilepsy (JME)(4) Eyes(5) Kidney(6) NoseHearing lossShort-rib thoracic dysplasia (SRTD)Orofaciodigital syndrome (OFD)Jeune asphyxiating thoracic dystrophy (JATD)OMIM:175700 Grieg cephalopolysyndactyly syndromeOMIM:225500 Ellis-van Creveld syndrome (EVC)Situs inversus, heterotaxyCongenital heart disease (CHD)(7) Organ placement, heart(8) Skeleton(9) Ears(10) VariousLethal congenital contracture syndrome (LCCS)Polycystic kidney disease and hepatic diseasePituitary stalk interruption syndrome (PSIS)Male infertilityTULP1OFD1KIAA0556INTUFLCNPLK4PIBF1OCRLNME7HYLS1C21orf2C2CD3CEP104CEP78NEK2KIZFAM161ACSPP1CEP120CEP41CEP19CENPFARL2BPCFAP52NEK9ATXN10CC2D2AOFD1WDPCPTTLL5TOPORSCEP83TUBTAPT1RP2KIAA0586RAB28POC1APOC1BDistal appendageCEP164TTBK2SCLT1Subdistal appendageTransition zoneCEP290CFAP53CCDC28BKIAA0753BBS4TMEM237TMEM231TMEM216TMEM138TMEM107TMEM67TCTN2TMEM17TCTN1SPATA7SDCCAG8RPGRIP1LIQCB1RPGRIP1RP1L1C5orf42TCTN3RP1NPHP4CEP290NPHP1MKS1CC2D2ALCA5B9D2B9D1AHI1Centriolar satellitesUnclear or various localizationRSPH1GAS8LRRC6NME9MCIDASDNAL1DNAAF4CCDC151DNAAF5DNAI2CCNODNAH6DNAJB13PIH1D3CCDC40HYDINCCDC103DNAH11ARMC4ZMYND10TTC25DRC1SPAG1RSPH3CCDC114CCDC39CCDC65DNAAF5RSPH4ARSPH9DNAAF1C21orf59DNAI1DNAAF2DNAAF3Nexin-dynein regulatory complexRadial spokeCytoplasmRegulation of centrioles and transcription in multiciliated cellsNon-motile cilium structureIFT subcomplex B Disease groups: (2),(4),(5),(8)IFT cilia regulators Disease groups: (2),(4),(8)IFT dynein subunits Disease groups: (8)LIFT Disease groups: (2),(4)UNC119IFT172ARL3BBS2TTC21BCCNQWDR19IFT27BBS10CEP290MKS1BBS12MAKSDCCAG8ARL6BBS7BBIP1IFT43LZTFL1IFT122MKKSWDR35BBS4ICKC8orf37TRAF3IP1IFT57BBS1RP2BBS5IFT81TTC8IFT80BBS9WDPCPTRIM32CLUAP1PDE6DIFT52ARL13BIFT140IFT kinesin subunitsNo known associations with ciliopathiesIFT subcomplex ADisease groups: (2),(4),(5),(8)BBS proteinsBBSome (IFT-associated) Disease groups: (2),(4)BBSome regulators Disease groups: (2),(4),(5),(8)Plasma membraneBasal bodyRetrograde IFTDoublet MTsAxonemeINV CompartmentSignalling proteinMother centriole(basal body)Ciliary vesicleCentriole or basal bodyBasal bodydockingCiliary sheathSubdistal appendageTransition zoneCentriolar satellitesPlasma membranePericiliary membraneLipidated protein transportLipidated proteinAnterograde IFTKinesinIFT subcomplex ABBS proteinsIFT subcomplex BDYNC2LI1WDR60WDR34DYNC2H1TCTEX1D2DYNC2LI1WDR60WDR34DYNC2H1TCTEX1D2IFT dynein subunitsIFT kinesin subunitsNo known associations with ciliopathiesTTC21BWDR19IFT43IFT122WDR35IFT140IFT subcomplex ABBS2BBS10CEP290MKS1BBS12SDCCAG8ARL6BBS7BBIP1LZTFL1MKKSBBS4C8orf37BBS1BBS5TTC8BBS9WDPCPTRIM32BBS proteinsBBSome (IFT-associated) BBSome regulatorsIFT subcomplex BIFT172IFT27TRAF3IP1IFT57IFT81IFT80CLUAP1IFT52LIFT UNC119ARL3RP2PDE6DARL13BDisease groups: (1),(10)Disease groups: (2),(3),(4),(5),(6),(7),(8),(9),(10)Disease groups: (2),(3),(8)Disease groups: (1),(2),(3),(4),(5),(6),(7),(8)Disease groups: (2),(5)Disease groups: (3),(4)Disease groups: (2),(3),(4),(5),(6),(7),(8),(9),(10)Disease groups: (2),(4),(5),(8),(10)Disease groups: (2)Disease groups: (1),(2),(4),(5),(8)Disease groups: (1),(2),(4),(5),(7),(8)Disease groups: (2),(4),(5),(7),(8),(10)Disease groups: (8)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4),(5),(8)Disease groups: (2),(4)IFT cilia regulators CCNQMAKICKDisease groups: (2),(4),(8)