ErkrankungGen(e)
Achondroplasie / HypochondroplasieFGFR3 COMP
Alagille-SyndromJAG1 NOTCH2
Beckwith-Wiedemann-SyndromNSD1 H19 KCNQ1OT1 CDKN1C
BrachydaktylieTP63 HOXD13 IHH GDF5 BMPR1B BMP2 GDF5 ROR2 NOG HOXD13 HOXD13 PTHLH TBX15 CHSY1
Bruck SyndromFKBP10 PLOD2
Campomele DysplasieSOX9
CherubismusSH3BP2
Chondrodysplasia punctataAGPS ARSE EBP GNPAT PEX7
Cockayne SyndromERCC3 ERCC4 ERCC5 ERCC6 ERCC8
Currarino SyndromVANGL1 MNX1
Diastrophische DysplasieSLC26A2
Duane-Ray Radial SyndromSALL4
Dysplasie epiphysäreCOL2A1 COL9A1 COL9A2 COL9A3 COMP MATN3 SLC26A2
Ehlers-Danlos SyndromCOL5A1 COL5A2 COL1A1 COL5A1 COL3A1 COL3A1 PLOD1 COL1A1 COL1A2 ADAMTS2 CHST14 DSE FKBP14 SLC39A13 B3GALT6 B4GALT7 TNXB
FGFR2-assoziierte ErkrankungenFGFR2
FGFR3-assoziierte ErkrankungenFGFR3
Fuhrmann Syndrom / Schinzel Phocomelia SyndromWNT7A
HoloprosenzephalieDEL1q41q42 SIX3 SHH TGIF ZIC2 PTCH1 GLI2 CDON
Holt-Oram SyndromTBX5
Jeune SyndromIFT80 DYNC2H1 WDR19 TTC21B
Kallmann SyndromKAL1 FGFR1 PROKR2 PROK2 CHD7 FGF8 GNRHR KISS1R NSMF TAC3 TACR3 GNRH1 KISS1 WDR11 HS6ST1 SEMA3A SPRY4 IL17RD DUSP6 FGF17 FLRT3
KraniosynostoseERF FGFR1 FGFR2 FGFR3 IL11RA MSX2 TCF12 TWIST1
Laron SyndromGHR STAT5B
Larsen SyndromFLNB B3GAT3 CHST3
Leri-Weill DyschondrosteoseSHOX SHOXY
Loeys-Dietz SyndromTGFBR1 TGFBR2 SMAD3 TGFB2 FBN1
Marfan SyndromFBN1
Miller SyndromDHODH
Minderwuchs proportionalFGD1 NIPBL KMT2D KDM6A PTPN11 KRAS SOS1 RAF1 CREBBP EP300 SHOX SHOXY DHCR7
Mulibrey Zwergwuchs,TRIM37
Multiples Pterygium SyndromCHRNG CHRNA1 CHRND
Osteogenesis imperfectaPLS3 PLOD2 COL1A1 COL1A2 PPIB IFITM5 SERPINF1 CRTAP LEPRE1 SERPINH1 FKBP10 SP7 BMP1 TMEM38B WNT1
Rachitis/ HypophosphatesiaALPL SLC34A3 DMP1 FGF23 ENPP1 PHEX CYP27B1 VDR
Robinow SyndromWNT5A ROR2
Silver-Russell Syndrom11p15
Sotos SyndromNSD1 NFIX EZH2
Spina bifida NeuralrohrdefektVANGL1 VANGL2 FUZ
Stickler SyndromCOL2A1 COL2A1 COL11A1 COL11A2 COL9A1 COL9A2
Stüve-Wiedemann SyndromHSPG2 LIFR
Thanatophore DysplasieFGFR3
Trichorhinophalangeales SyndromTRPS1 8q24.1
Ulna-Mamma SyndromTBX3
Wachstumshormon-MangelBTK GHRHR GH1