|
|||
|
EB Subtyp |
Gen |
Protein |
Erbmodus |
|---|---|---|---|
EBS Weber-Cockayne |
KRT 5,14 |
Keratin 5 / 14 |
AD/AR |
EBS Köbner |
KRT 5,14 |
Keratin 5 / 14 |
AD/AR |
EBS Dowling-Meara |
KRT 5,14 |
Keratin 5 / 14 |
AD |
EBS mit "mottled pigmentation" |
KRT 5 |
Keratin 5 |
AD |
EBS mit Muskeldystrophie |
PLEC1 |
Plektin |
AR |
EBJ Herlitz |
LAMA3 |
Laminin 5 |
AR |
EBJ non-Herlitz |
COL17A1 |
Kollagen XVII |
AR |
EBJ mit Pylorusatresie |
ITRA6, ITRB4 |
Integrin α6β4 |
AR |
EBD dominant |
COL7A1 |
Kollagen VII |
AD |
EBD Hallopeau-Siemens |
COL7A1 |
Kollagen VII |
AR |
EBD non-Hallopeau-Siemens |
COL7A1 |
Kollagen VII |
AR |
|
|
|
|
Kindler Syndrom |
KIND1 |
Kindlin-1 |
AR |
© 2006 Netzwerk Epidermolysis bullosa