Gen-Panel
Ektodermale Dysplasien, umfassende Diagnostik: ID366.00, 92 Gene
ANAPC1,
ANTXR1,
AP1B1,
APCDD1,
ARID1A,
ARID1B,
ATP6V1B2,
AXIN2,
C3orf52,
CDH1,
CDH3,
CDSN,
CHUK,
CST6,
CTNND1,
CTSK,
DLX3,
DSG4,
DSP,
EDA,
EDAR,
EDARADD,
EVC,
EVC2,
FGF10,
FGFR2,
FGFR3,
GJA1,
GJB2,
GJB6,
GRHL2,
HEPHL1,
HOXC13,
HR,
IFT43,
IFT52,
IFT122,
IFT140,
IKBKG,
INSR,
KCTD1,
KDF1,
KREMEN1,
KRT14,
KRT16,
KRT17,
KRT25,
KRT74,
KRT81,
KRT83,
KRT85,
KRT86,
LEF1,
LIPH,
LPAR6,
LRP6,
MBTPS2,
MSX1,
NECTIN1,
NECTIN4,
NFKB2,
NFKBIA,
NLRP1,
PAX9,
PEX1,
PEX6,
PKP1,
PORCN,
PRKD1,
RIPK4,
ROGDI,
RSPO4,
SETBP1,
SLC25A24,
SMARCA4,
SMARCAD1,
SMARCB1,
SMARCE1,
SNRPE,
SREBF1,
ST14,
TBC1D24,
TBX3,
TP63,
TRAF6,
TRPS1,
TSPEAR,
TWIST2,
UBR1,
WDR19,
WDR35,
WNT10A
Inkludierte Phänotypen
Ektodermale Dysplasie (Haare/Zähne/Nägel/Schweißdrüsen), nicht-syndromal: 20 Gene
CST6,
DLX3,
EDA,
EDAR,
EDARADD,
GJB6,
HOXC13,
IKBKG,
KDF1,
KREMEN1,
KRT14,
KRT74,
KRT85,
LEF1,
LRP6,
MSX1,
NFKBIA,
TRAF6,
TSPEAR,
WNT10A
Ektodermale Dysplasie (Haare/Zähne/Nägel/Schweißdrüsen), syndromal: 28 Gene
AP1B1,
CDH3,
CHUK,
DLX3,
DSG4,
GJA1,
GJB2,
GJB6,
GRHL2,
IKBKG,
KRT16,
KRT17,
KRT81,
KRT83,
KRT86,
NECTIN1,
NECTIN4,
NFKBIA,
PKP1,
PORCN,
PRKD1,
RIPK4,
SMARCAD1,
SREBF1,
TBX3,
TP63,
TRPS1,
TWIST2
Komplexe Syndrome mit ektodermaler Dysplasie: 42 Gene
ANTXR1,
ARID1A,
ARID1B,
ATP6V1B2,
CDH1,
CTNND1,
CTSK,
DSG4,
DSP,
EVC,
EVC2,
FGF10,
FGFR2,
FGFR3,
HEPHL1,
IFT43,
IFT52,
IFT122,
IFT140,
INSR,
KCTD1,
KRT14,
KRT16,
KRT17,
KRT81,
KRT83,
KRT86,
NLRP1,
PEX1,
PEX6,
ROGDI,
SETBP1,
SLC25A24,
SMARCA4,
SMARCAD1,
SMARCB1,
SMARCE1,
SREBF1,
TBC1D24,
UBR1,
WDR19,
WDR35
HPO Terms
Ectodermal dysplasia, Anhidrosis, Hair loss, Nail dystrophy, Skin hyperkeratosis, Dental anomalies, Ectodermal skin lesions, Skin fragility, Skin atrophy, Anhidrotic ectodermal dysplasia, Hypotrichosis, Epidermal fragility, Hair abnormalities, Skin lesions, Ectodermal defects, Skin pigmentation anomalies, Dental caries, Abnormal hair morphology, Ectodermal fragility, Ectodermal skin defects
