Lists > Genodermatoses > by Defect

by Defect

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Cockayne syndromeXPB DNA helicase

 

Cowden syndromePTEN gene

 

Dariers diseaseSERCA2 gene  (encodes a Ca2+-transporting ATPase)

 

Fabrys diseasealpha-galactosidase

 

incontinentia pigmentiNEMO (NF kappa ß essential modulator)

 

Marfans syndromefibrillin

 

Papillon-Lefevrecathepsin

 

pilomatricomasbeta-catenin mutations

 

piebaldismc-Kit proto-oncogene also involved in mastocytosis

 

Sjogren-Larson sxfatty alcohol oxidoreductase deficiency

 

X-linked ichthyosissteroid-sulfatase

 

lamellar ichthyosis transglutaminase

 

ichthyosis vulgarisprofilaggrin

 

epidermolytic hyperkeratosis keratins1,10

 

pachyonychia congenita type Ikeratin 6 or 16
pachyonychia congenita type IIkeratin 17

 

Vorner variant keratodermakeratin 9

 

ichthyosis bullosa of Siemenskeratin 2e

 

white sponge nevus keratin 4,13

 

EB simplexkeratins 5,14

 

junctional EB
GABEB        collagen XVII (BP 180)
EB with pyloric atresia        alpha4beta6 integrin
lethal EB (Herlitz)        laminin 5

 

dystrophic EBtype VII collagen

 

Vohlwinkels sxloricrin