Polycystic Liver Disease
What's New
Last Posted: Sep 02, 2023
- Novel ?-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
Melissa M Boerrigter, et al. Genes 2023 0 (8) - Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
Lanktree Matthew B, et al. Journal of the American Society of Nephrology : JASN 2018 0 (10) 2593-2600 - ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse Whitney, et al. Journal of the American Society of Nephrology : JASN 2019 0 (11) 2091-2102 - Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county.
Suwabe Tatsuya, et al. JHEP reports : innovation in hepatology 2020 0 (6) 100166 - Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease.
Kataoka Hiroshi, et al. Hepatology international 2021 0 (3) 791-803 - Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.
Wang Jiaru, et al. Annals of translational medicine 2021 0 (2) 120 - Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks Dana, et al. JHEP reports : innovation in hepatology 2022 0 (11) 100579 - CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2
ClinGen Actionability Working Group - Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
Wills Edgar S, et al. European journal of human genetics : EJHG 2016 8 - KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease.
Savige Judy et al. Seminars in nephrology 2015 Nov (6) 618-622.e5
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 22, 2023
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