Genodermatosen
berustend op een defect in het gen voor keratine |
Epidermolysis
bullosa simplex |
K5, K14 |
Bullous
congenital ichthiosiform erythroderma (Brocq) |
K1, K10 |
Ichthyiosis
bullosa Siemens |
K1, K10
|
Palmoplantar
keratodermas |
K9, K1 |
White
sponge naevus |
K1, K4, K13 |
|
|
Ichthyosis syndromen |
Ichthyosis vulgaris |
FLG, p.Arg501*, c.2282_2285del, c.3702del, p.Arg2447*
en p.Ser3247* |
X-linked ichthyosis |
STS |
Autosomaal recessief congenitaal ichthyosis (ARCI) |
panel 1 (TGM1, ABCA12, CYP4F22) |
Nonbulleuze congenitale ichthyosiforme erythroderma
(NCIE) |
panel 2 (ALOX12B, ALOXE3) |
Autosomaal recessief congenitaal ichthyosis (ARCI) |
panel 3 (TGM1, ABCA12, CYP4F22, ALOX12B, ALOXE3, NIPAL4,
PNPLA1) |
Lamellaire ichthyosis (LI) |
TGM1 |
LI / Harlequin ichthyosis |
ABCA12 |
NCIE |
ALOX12B |
NCIE |
ALOXE3 |
ARCI |
CYP4F22 |
ARCI |
NIPAL4 |
ARCI |
PNPLA1 |
Chanarin-Dorfman syndroom |
ABHD5 |
Ichthyosis-hypotrichosis-scleroserende-cholangitis |
CLDN1 |
Ichthyosis prematurity syndroom |
SLC27A4 |
Vohwinkel syndroom met ichthyosis |
LOR |
Epidermolytische ichthyosis met palmoplantaire
keratodermie |
KRT1 |
Epidermolytische ichthyosis zonder palmoplantaire
keratodermie |
KRT10 |
Superficiële epidermolytische ichthyosis |
KRT2 |
|
|
Palmoplantaire keratoderma |
|
Palmoplantaire keratoderma type Vörner |
KRT9 |
Palmoplantaire keratoderma type Unna-Thost |
KRT1 |
Palmoplantaire keratoderma striata/ SAM |
DSG1 |
Palmoplantaire keratoderma punctata |
AAGAB |
Palmoplantaire keratoderma type Nagashima |
SERPINB7 |
Mal de Meleda |
SLURP1 |
Pachyonychia congenita (PC) |
panel (KRT6A, KRT16, KRT6B, KRT17 alleen
hotspots) |
PC |
KRT6A, exon 1,7 |
PC |
KRT16, exon 1,6 |
PC |
KRT6B, exon 1,7 |
PC |
KRT17, exon 1,6 |
|
|
Primair lymfoedeem |
|
Lymfoedeem-distichiasis |
FOXC2 |
Nonne-Milroy lymfoedeem |
FLT4 exon 17 t/m 25 |
Milroy-like lymfoedeem |
EGFC |
Primair lymfoedeem |
GJC2 |
Hennekam syndroom |
CCBE1 |
|
|
Diversen |
|
Acral peeling skin syndroom |
TGM5 |
Peeling skin syndroom |
CSTA |
Acrodermatitis enteropathica |
SLC39A4 |
Albinisme, X-linked |
OA1 |
Albinisme, Oculocutaan, type 1 |
TYR |
Albinisme, Oculocutaan, type 2 |
OCA2 |
Basaalcel naevus syndroom / Gorlin-Goltz |
PTCH1 |
Birt Hogg Dubé |
FLCN |
Buschke-Ollendorff syndroom |
LEMD3 |
Carney complex type 1 |
PRKAR1A |
CHILD syndroom, CK syndroom |
NSDHL |
Clove syndroom/ fibroadipose hyperplasia/
Macrodactylie |
PIK3CA, exon 2,10, 21 |
Conradi-Hünermann-Happle syndroom/ CDPX2 |
EBP |
Cornelia de Lange syndrome 5 (CdLS 5) |
HDAC8 |
Cornelia de Lange syndroom |
NIPBL |
Cornelia de Lange syndroom, X-gebonden |
SMC1A |
Cowden syndroom |
PIK3CA |
Proteus syndroom |
AKT1, exon 4 |
Cowden syndroom 6 |
AKT1 |
Cowdn, ziekte van |
PTEN |
Darier-White |
ATP2A2 |
Hailey-Hailey |
ATP2C1 |
Darmkanker, Lynch syndroom |
MLH1, MSH2, MSH6, PMS2 |
Dowling-Degos |
panel (POFUT1, POGLUT1) |
Dystrofische epidermolysis bullosa (DEB) |
COL7A1 |
Autosomaal dominant DEB |
COL7A1 |
Autosomaal recessief DEB |
COL7A1 |
Erythrokeratodermia variabilis |
panel (GJB3, GJB4) |
Fabry, ziekte van |
alpha-galactosidase A (GLA) |
Focal Dermal Hypoplasia (FDH) |
PORCN |
Gaucher, ziekte van |
GBA |
Hemochromatose, type 1 |
HFE |
Hyper IgE recurrent infection syndrome,
autosomal dominant |
STAT3 |
Hyper IgE recurrent infection syndrome,
autosomal recessive |
DOCK8 |
Hypotrichosis Marie Unna |
U2HR |
Li-Fraumeni syndroom |
TP53 |
Lynch Syndroom (HNPCC) |
MSH2, MLH1, MSH6, PMS2, microsatelliet
instabiliteit |
McCune-Albright syndroom (MAS) |
GNAS |
Monilethrix |
panel (KRT81, KRT83, KRT86 exons 1,7) |
Capillaire malformaties-arteriovenous malformaties |
RASA1 |
Multiple cutane en mucosale veneuze malformaties |
TEK |
Oligodontie |
panel (WNT10A, MSX1, PAX9, AXIN2) |
Oligodontie en colonkanker |
AXIN2 |
Odonto onychodermal dysplasie |
WNT10A |
Papillon-Lefevre syndroom |
CTSC |
Peutz-Jeghers syndroom |
STK11 |
Pityriasis rubra pilaris |
CARD14 exon 2,3 |
Proteus syndroom |
AKT1 |
Sneddon syndroom |
CECR1 |
Sturge-Weber syndroom |
GNAQ,exon 4 |
Tand Agenesis |
PAX9 |
Wiskott-Aldrich syndrome |
WAS |
Witkop syndroom |
MSX1 |