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

Autosomal rezessive Hypercholesterinämie

Autosomal rezessive Hypercholesterinämie (ARH) wird durch Mutationen im LDLRAP1-Gen hervorgerufen. Die Bezeichnung ARH ist etwas veraltet. Inzwischen wissen wir das Mutationen in allen Genen des Fettstoffwechsels zu einer Störung beitragen können. Je mehr Gene betroffen und je schwerer die Mutationen, desto stärker die klinische Ausprägung.

Gliederung

Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
Autosomal dominante Hypercholesterinämie 2
Autosomal dominante Hypercholesterinämie 3
Autosomal rezessive Hypercholesterinämie
LDLRAP1
Lp(a) Hyperlipoproteinämie
Veranlagung für hohes LDL-Cholesterin

Referenzen:

1.

Zuliani G et al. (1999) Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia.

external link
2.

Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

external link
3.

Norman D et al. (1999) Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.

external link
4.

Ciccarese M et al. (2000) A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26.

external link
5.

Eden ER et al. (2001) Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families.

external link
6.

Garcia CK et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.

external link
7.

Al-Kateb H et al. (2002) Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

external link
8.

Canizales-Quinteros S et al. (2005) A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

external link
9.

Jones C et al. (2007) Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

external link
10.

Zuliani G et al. (1995) Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree.

external link
11.

Rallidis L et al. (1996) Aortic stenosis in homozygous familial hypercholesterolaemia.

external link
12.

Sun XM et al. (1997) Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.

external link
13.

Schmidt HH et al. (1998) Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.

external link
14.

OMIM.ORG article

Omim 603813 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz