Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Erbliche Lebererkrankungen

Die Gruppe der erblichen Lebererkarankungen fasst Erbkrankheiten mit ganz unterschiedlicher Pathogenese zusammen. Meist sind es Stoffwechselstörungen oder Fehlbildungen, die zu einer chronischen Leberschädigung führen.

Gliederung

Genetisch bedingte Erkrankungen
Erbliche Augenerkrankungen und Sehstörungen
Erbliche Blutkrankheiten und Gerinnungsstörungen
Erbliche Bronchial- und Lungenerkrankungen
Erbliche Erkrankungen des Muskel- und Skelettsystems
Erbliche Erkrankungen im Hals-Nasen-Ohren-Bereich
Erbliche Fehlbildungen
Erbliche Gefäßerkrankungen
Erbliche Hauterkrankungen
Erbliche Herzerkrankungen
Erbliche Infektionsanfälligkeiten
Erbliche Lebererkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
CP
Budd-Chiari-Syndrom
JAK2
Caroli Erkrankung
PKHD1
Genetisch bedingte Hyperbilirubinämie
Crigler-Najjar-Syndrom 1
UGT1A
Crigler-Najjar-Syndrom 2
UGT1A
Dubin-Johnson-Syndrom
ABCC2
Familiäre transiente neonatale Hyperbilirubinämie
UGT1A
Gilbert-Syndrom
UGT1A
Hyperbilirubinämie vom Rotor-Typ
SLCO1B1
SLCO1B3
Hepatitis B-Infektionsanfälligkeit
IL10RB
Hepatozelluläres Karzinom
MET
Hämochromatose
Hämochromatose 1
BMP2
HFE
Hämochromatose 2a
HFE2
Hämochromatose 2b
HAMP
Hämochromatose 3
TFR2
Hämochromatose 4
SLC40A1
Hämochromatose 5
FTH1
Ivemark-Syndrom
Renale, hepatische und pankreatische Dysplasie 1
NPHP3
Renale, hepatische und pankreatische Dysplasie 2
NEK8
Morbus Fabry
GLA
Polyzystische Lebererkrankung
LRP5
Polyzystische Lebererkrankung 1
PRKCSH
Polyzystische Lebererkrankung 2
SEC63
Trichohepatoenterisches Syndrom
Trichohepatoenterisches Syndrom 1
TTC37
Trichohepatoenterisches Syndrom 2
SKIV2L
Erbliche Nervenerkrankungen
Erbliche Nierenerkrankungen
Erbliche Pankreaserkrankungen
Erbliche Stoffwechselerkrankungen
Erbliche Tumorerkrankungen
Erbliche endokrinologische Erkrankungen
Erbliche immunologische Erkrankungen
Erblicher Bluthochdruck
Genetische Einflüsse auf Arzneimittel-Verträglichkeit

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Ohshima T et al. (1997) alpha-Galactosidase A deficient mice: a model of Fabry disease.

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Fan JQ et al. (1999) Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

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Update: 14. August 2020
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