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Hypercholanemia, familial

MedGen UID:
334689
•Concept ID:
C1843139
•
Disease or Syndrome
Synonym: Hypercholanemia
SNOMED CT: Familial hypercholanemia (723360007); Hereditary hypercholanemia (723360007)
 
Related genes: TJP2, SLC10A1
 
Monarch Initiative: MONDO:0100327
OMIM® Phenotypic series: PS607748

Definition

A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Hypercholanemia, familial in Orphanet.

Professional guidelines

PubMed

Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.
Benedek P, Eriksson M, Duvefelt K, Freyschuss A, Frick M, Lundman P, Nylund L, Szummer K
J Intern Med 2018 Dec;284(6):674-684. Epub 2018 Jul 29 doi: 10.1111/joim.12812. PMID: 29974534

Recent clinical studies

Etiology

Recognition of asymptomatic hypercholanemia of pregnancy: Different clinical features, fetal outcomes and bile acids metabolism from intrahepatic cholestasis of pregnancy.
He Y, Zhang X, Shao Y, Xu B, Cui Y, Chen X, Chen H, Luo C, Ding M
Biochim Biophys Acta Mol Basis Dis 2022 Jan 1;1868(1):166269. Epub 2021 Sep 17 doi: 10.1016/j.bbadis.2021.166269. PMID: 34537368
Breast arterial calcification on mammography does not predict coronary artery disease by invasive coronary angiography.
Fathala AL, Alfaer F, Aldurabi A, Shoukri M, Alsergani H
Ann Saudi Med 2020 Mar-Apr;40(2):81-86. Epub 2020 Apr 2 doi: 10.5144/0256-4947.2020.81. PMID: 32241166Free PMC Article
miR-505-3p controls chemokine receptor up-regulation in macrophages: role in familial hypercholesterolemia.
Escate R, Mata P, Cepeda JM, Padró T, Badimon L
FASEB J 2018 Feb;32(2):601-612. doi: 10.1096/fj.201700476RR. PMID: 29457550
Effect of alirocumab, a monoclonal proprotein convertase subtilisin/kexin 9 antibody, on lipoprotein(a) concentrations (a pooled analysis of 150 mg every two weeks dosing from phase 2 trials).
Gaudet D, Kereiakes DJ, McKenney JM, Roth EM, Hanotin C, Gipe D, Du Y, Ferrand AC, Ginsberg HN, Stein EA
Am J Cardiol 2014 Sep 1;114(5):711-5. Epub 2014 Jun 18 doi: 10.1016/j.amjcard.2014.05.060. PMID: 25060413
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
van Zyl T, Jerling JC, Conradie KR, Feskens EJ
J Hum Genet 2014 Feb;59(2):88-94. Epub 2013 Nov 28 doi: 10.1038/jhg.2013.123. PMID: 24284361

Diagnosis

Recognition of asymptomatic hypercholanemia of pregnancy: Different clinical features, fetal outcomes and bile acids metabolism from intrahepatic cholestasis of pregnancy.
He Y, Zhang X, Shao Y, Xu B, Cui Y, Chen X, Chen H, Luo C, Ding M
Biochim Biophys Acta Mol Basis Dis 2022 Jan 1;1868(1):166269. Epub 2021 Sep 17 doi: 10.1016/j.bbadis.2021.166269. PMID: 34537368
Breast arterial calcification on mammography does not predict coronary artery disease by invasive coronary angiography.
Fathala AL, Alfaer F, Aldurabi A, Shoukri M, Alsergani H
Ann Saudi Med 2020 Mar-Apr;40(2):81-86. Epub 2020 Apr 2 doi: 10.5144/0256-4947.2020.81. PMID: 32241166Free PMC Article
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

Therapy

ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263
Effect of alirocumab, a monoclonal proprotein convertase subtilisin/kexin 9 antibody, on lipoprotein(a) concentrations (a pooled analysis of 150 mg every two weeks dosing from phase 2 trials).
Gaudet D, Kereiakes DJ, McKenney JM, Roth EM, Hanotin C, Gipe D, Du Y, Ferrand AC, Ginsberg HN, Stein EA
Am J Cardiol 2014 Sep 1;114(5):711-5. Epub 2014 Jun 18 doi: 10.1016/j.amjcard.2014.05.060. PMID: 25060413
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
van Zyl T, Jerling JC, Conradie KR, Feskens EJ
J Hum Genet 2014 Feb;59(2):88-94. Epub 2013 Nov 28 doi: 10.1038/jhg.2013.123. PMID: 24284361

Prognosis

Breast arterial calcification on mammography does not predict coronary artery disease by invasive coronary angiography.
Fathala AL, Alfaer F, Aldurabi A, Shoukri M, Alsergani H
Ann Saudi Med 2020 Mar-Apr;40(2):81-86. Epub 2020 Apr 2 doi: 10.5144/0256-4947.2020.81. PMID: 32241166Free PMC Article
Effect of alirocumab, a monoclonal proprotein convertase subtilisin/kexin 9 antibody, on lipoprotein(a) concentrations (a pooled analysis of 150 mg every two weeks dosing from phase 2 trials).
Gaudet D, Kereiakes DJ, McKenney JM, Roth EM, Hanotin C, Gipe D, Du Y, Ferrand AC, Ginsberg HN, Stein EA
Am J Cardiol 2014 Sep 1;114(5):711-5. Epub 2014 Jun 18 doi: 10.1016/j.amjcard.2014.05.060. PMID: 25060413

Clinical prediction guides

Breast arterial calcification on mammography does not predict coronary artery disease by invasive coronary angiography.
Fathala AL, Alfaer F, Aldurabi A, Shoukri M, Alsergani H
Ann Saudi Med 2020 Mar-Apr;40(2):81-86. Epub 2020 Apr 2 doi: 10.5144/0256-4947.2020.81. PMID: 32241166Free PMC Article
Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.
Benedek P, Eriksson M, Duvefelt K, Freyschuss A, Frick M, Lundman P, Nylund L, Szummer K
J Intern Med 2018 Dec;284(6):674-684. Epub 2018 Jul 29 doi: 10.1111/joim.12812. PMID: 29974534
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

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