Hypercholesterolemia, Familial, 4

Alternative Names

  • FHCL4
  • Hypercholesterolemia, Autosomal Recessive
  • ARH
  • Hypercholesterolemia, Autosomal Recessive, 1
  • ARH1
  • FHCB1
  • Hypercholesterolemia, Autosomal Recessive, 2
  • ARH2
  • FHCB2
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

603813

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p36.11

Description

FHCL4 is a form of autosomal recessive familial hypercholesterolemia resulting from mutations in the LDL Receptor Adaptor Protein. In these patients, LDLR function is reduced in the liver, but not in the fibroblasts. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
603813.1.1LebanonMaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.406C>THomozygousAutosomalGarcia et al, 2001
603813.1.2LebanonFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.406C>THomozygousAutosomal, RecessiveGarcia et al, 2001 Sibling of 603813.1....
603813.1.3LebanonMaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.406C>THomozygousAutosomal, RecessiveGarcia et al, 2001 Sibling of 603813.1....
603813.1.4LebanonFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.406C>THomozygousAutosomal, RecessiveGarcia et al, 2001 Sibling of 603813.1....
603813.2.1LebanonFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.605C>AHomozygousAutosomal, RecessiveGarcia et al, 2001
603813.2.2LebanonFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.605C>AHomozygousAutosomal, RecessiveGarcia et al, 2001 Sibling of 603813.2....
603813.3.1LebanonFemaleYesNo Hypercholesterolemia; Xanthomatosis; C...NM_015627.2:c.406C>THomozygousAutosomal, RecessiveEden et al, 2002 Turkish patient with...
603813.3.2LebanonFemaleYesNo HypercholesterolemiaNM_015627.2:c.406C>THomozygousAutosomal, RecessiveEden et al, 2002 Sister of 603813.3.1
603813.3.3LebanonMaleYesNo Hypercholesterolemia; XanthomatosisNM_015627.2:c.406C>THomozygousAutosomal, RecessiveEden et al, 2002 Cousin of of 603813....
603813.4.1LebanonMaleNoYes Hypercholesterolemia; Xanthomatosis;NM_015627.2:c.89-1G>CHomozygousAutosomal, RecessiveLind et al, 2004
603813.5.1SyriaMaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.89-1G>CHomozygousAutosomal, RecessiveAl-Kateb et al, 2002
603813.5.2SyriaFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.89-1G>CHomozygousAutosomal, RecessiveAl-Kateb et al, 2002
603813.5.3SyriaFemaleYesYes Hypercholesterolemia; XanthomatosisNM_015627.2:c.89-1G>CHomozygousAutosomal, RecessiveAl-Kateb et al, 2002
603813.6LebanonUnknown HypercholesterolemiaNM_015627.2:c.406C>THeterozygousAutosomal, DominantFahed et al, 2017
603813.7LebanonFemaleYesYes Increased LDL cholesterol concentration;...NM_015627.2:c.406C>T, "Lebanese Allele" NM_000527.4:c.2043C>AHeterozygous, HomozygousAutosomal, Recessive, DominantFahed et al. 2016
603813.8LebanonMaleYesYes Increased LDL cholesterol concentration;...NM_015627.2:c.406C>T, NM_000527.4:c.1171G>AHeterozygous, HomozygousAutosomal, Recessive, DominantFahed et al. 2016
603813.9LebanonMaleYes Increased LDL cholesterol concentrationNM_015627.2:c.406C>T, NM_000527.4:c.1171G>A, "Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, Recessive, DominantFahed et al. 2016
603813.G.1LebanonUnknown Hypercholesterolemia ; Abnormal heart ...NM_015627.2:c.406C>THomozygousAutosomal, DominantFahed et al, 2017 Group of 8 patients ...
603813.G.2.1LebanonUnknownYes Increased LDL cholesterol concentrationNM_015627.2:c.406C>THeterozygousAutosomal, RecessiveFahed et al. 2016 Group of 11 patients
603813.G.2.2LebanonUnknownYes Increased LDL cholesterol concentration;...NM_015627.2:c.406C>THomozygousAutosomal, RecessiveFahed et al. 2016 Group of 9 patients
603813.G.2.3LebanonUnknownYes Increased LDL cholesterol concentration;...NM_015627.2:c.406C>T, "Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, Recessive, DominantFahed et al. 2016 Group of 2 patients
603813.G.2.4LebanonUnknownYes Increased LDL cholesterol concentrationNM_015627.2:c.406C>T, NM_000527.4:c.1171G>AHeterozygousAutosomal, Recessive, DominantFahed et al. 2016 Group of 4 patients
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