ErkrankungGen(e)
Adrenogenitales SyndromCYP11B1 CYP17A1 CYP21A2 HSD3B2 POR
AhornsirupkrankheitBCKDHA BCKDHB DBT DLD PPM1K
Alpha-1-Antitrypsin DefizienzSERPINA1
AmyloidoseAPOA1 FGA LYZ MEFV TTR
Apolipoprotein E MangelAPOE
Carnitinpalmitoyltransferase II-MangelCPT2
Cerebrotendinöse XanthomatoseCYP27A1
CystinosisCTNS
CystinurieSLC3A1 SLC7A9
Cystische FibroseCFTR
Danon KrankheitLAMP2
Diabetes melltus permanent neonatalABCC8 GCK INS KCNJ11
FruktoseintoleranzALDOB
Fumarase MangelFH
GalaktosämieGALT
Galle & Gallenblasen ErkrankungenABCB4 ABCG8 AKR1D1 AMACR ATP8B1 CYP7B1 HSD3B7
GangliosidoseGLB1 HEXA HEXB
GLUT1-MangelGLUT1
GlykogenoseAGL AGL G6PC GAA GBE1 LAMP2 PFKM PGM1 PHKA1 PHKB PHKG2 PRKAG2 PYGL PYGM SLC2A2 SLC37A4
HADH/SCHAD MangelHADHSC
HämochromatoseFTH1 HAMP HFE HFE2 SLC40A1 TFR2
HomocystinurieMMACHC MTHFR
HyperbilirubinemiaABCC2 SLCO1B1 SLCO1B3 UGT1A1 UGT1A1
HypercholesterinämieAPOB LDLR PCSK9
Hyperferritinämie-Katarakt SyndromFTL
Hyperornithinämie-HyperammonämieSLC25A15
HyperoxalurieAGXT GRHPR HOGA1
Hypo-/HyperparathyreoidismusCASR GCMB PTH
Hypophysen-Hormon-MangelHESX1 POU1F1 PROP1 LHX3 LHX4 OTX2
Kalzium MetabolismusAP2S1 CASR CYP24A1 GNA11
KoproporphyrieCASR CPOX PTH
LaktoseintoleranzLTC
Laron SyndromGHR STAT5B
LeukenzephalopathieARSA CLCN2 COL4A1 CSF1R CSF1R DARS2 EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GALC HEPACAM HTRA1 MLC1 NOTCH3 POLR3A RNASET2 SCP2 TYMP
LipodystrophieAGPAT2 BSCL2 CAV1 CIDEC LMNA PLIN1 PPARG PPP1R3A PTRF ZMPSTE24
Maligne HyperthermieCACNA1S RYR1
Methylmalonic aciduria and homocystinuriaLMBRD1 MMACHC
MODY DiabetesBLK CEL GCK HNF1A HNF1B HNF4A INS IPF1 KLF11 NEUROD1 PAX4
Morbus FabryGLA
Morbus KrabbeGALC
Morbus WilsonATP7B
MukopolysaccharidoseARSB GALNS GLB1 GUSB HGSNAT HYAL1 IDS IDUA NAGLU SGSH
NeuroferritinopathieC19orf12 COASY FTL PANK2 PLA2G6 WDR45
Neuronale Ceroid-LipofuscinoseCLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN MFSD8 PPT1 TPP1
Niemann-Pick-KrankheitNPC1 NPC2 SMPD1
ObesitätADRB2 ADRB3 AGRP CART ENPP1 GHRL MC4R NR0B2 POMC PPARG PPARGC1B SDC3 SIM1 UCP1 UCP3
PankreatitisCFTR CTRC PRSS1 SPINK1
Perosxysomale Erkrankungen /ZellwegerPEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 PEX3 PEX5 PEX6 PEX7 PXMP3
PorphyrieALAD CPOX FECH HFE HMBS PPOX UROD UROS
PropionazidämiePCCA PCCB
PseudohypoaldosteronismusCUL3 KLHL3 NR3C2 PHA2A SCNN1A SCNN1B SCNN1G WNK1 WNK4
Pyridoxamin-5′-Phosphat-Oxidase-MangelPNPO
Refsum KrankheitPEX1 PEX7 PHYH
Schilddrüsen dyshormonogenesisDUOX2 DUOXA2 IYD SLC26A4 SLC5A5 TG TPO
Succinatsemialdehyddehydrogenase-MangelALDH5A1
ThyroidhormonresistenzTHRB
VLCAD-MangelACADVL


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