Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Fettstoffwechselerkrankungen

Der Gruppe der erblichen Fettstoffwechselerkrankungen umfasst Störungen des Fettgewebes wie auch Dyslipidämien, deren Ursache in anderen Organen oder Geweben zu suchen ist.

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Dyslipidämie
Apolipoprotein-Mangel
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1-Mangel
APOA1
Apolipoprotein A2-Mangel
APOA2
Apolipoprotein F-Mangel
APOF
Apolipoprotein H-Mangel
APOH
CLU
Betalipoprotein-Mangel
Abetalipoproteinämie
MTTP
Hypobetalipoproteinemie
ANGPTL3
APOB
Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1
Hyperalphalipoproteinämie 1
CETP
Hyperalphalipoproteinämie 2
APOC3
Hyperlipämie
Chylomikronämie
APOA5
APOC2
APOE
GPIHBP1
LPL
Familiäre kombinierte Hyperlipämie
Kombinierte familiäre Hyperlipämie mit Dysfunktion des Fettgewebes
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
APOE
GCKR
OSBPL10
USF1
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Kombinierte familiäre Hyperlipämie mit gestörter LDL-Clearance
ATF6
LDLR
PCSK9
Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
LDLR
Autosomal dominante Hypercholesterinämie 2
APOB
Autosomal dominante Hypercholesterinämie 3
PCSK9
Autosomal rezessive Hypercholesterinämie
LDLRAP1
Lp(a) Hyperlipoproteinämie
LPA
Veranlagung für hohes LDL-Cholesterin
HMGCR
Hypertriglyceridämie
APOA5
APOE
GPIHBP1
Kombinierter Lipasemangel
LMF1
LIPC
LIPE
LPL
Transiente infantile Hypertriglyceridämie
GPD1
Veranlagung für hohe Triglyceridwerte
ANGPTL4
Mangel an lysosomaler saurer Lipase
LIPA
Hypoalphalipoproteinämie
ABCA1
APOA1
Hypobetalipoproteinemie
ANGPTL3
APOB
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1
Hepatischer CPT-Mangel Typ 1A
CPT1A
Meerblaue Histiozytenerkrankung
APOE
Statin-Intoleranz
SLCO1B1
Störung der Körperfettverteilung
Fettleibigkeit
Autosomal dominante Adipositas
MC4R
BMI-beeinflussender genetischer Faktor
Genetischer BMI-Faktor 14
FTO
Frühzeitig einsetzende Adipositas
NR0B2
POMC
Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1
Schwere Fettsucht
PPARG
SIM1
Schwere Fettsucht mit Typ 2 Diabetes
UCP3
Spätmanifeste Adipositas
AGRP
Lipodystrophie
Generalisierte Lipodystrophie
Generalisierte Lipodystrophie Typ 1
AGPAT2
Kongenitale progressive Lipodystrophie Typ 2
BSCL2
Partielle Lipodystrophie
Familiäre partielle Lipodystrophie Typ 2
LMNA
Familiäre partielle Lipodystrophie Typ 3
PPARG
Familiäre partielle Lipodystrophie Typ 4
PLIN1
Familiäre partielle Lipodystrophie Typ 5
CIDEC
Vererbte Magersucht
AGRP
Störungen der mRNA-Editiertfunktion
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
Tangier Erkrankung
ABCA1
Triglyceridspeicherkrankheit
Triglyceridspeicherkrankheit mit Ichtiosis
ABHD5
Triglyceridspeicherkrankheit mit Myopathie
PNPLA2
Vermindete Cholesterinsenkung durch Statine
HMGCR
KIF6
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

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