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Autosomal dominant polycystic liver disease

MedGen UID:
56388
Concept ID:
C0158683
Disease or Syndrome
Synonyms: Congenital cystic disease of liver; Isolated autosomal dominant polycystic liver disease; Isolated polycystic liver disease; Polycystic liver disease
SNOMED CT: Congenital cystic disease of liver (72925005); Congenital polycystic disease of liver (72925005); Fibrocystic disease of liver (72925005); Congenital cystic liver (72925005); Congenital hepatic cyst (72925005); PLD - Polycystic liver disease (72925005); Congenital polycystic liver disease (72925005); Fibrocystic liver disease (72925005); Polycystic liver disease (72925005); Cystic disease of liver (72925005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0006557
Monarch Initiative: MONDO:0000447
OMIM® Phenotypic series: PS174050
Orphanet: ORPHA2924

Definition

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant polycystic liver disease
Follow this link to review classifications for Autosomal dominant polycystic liver disease in Orphanet.

Conditions with this feature

Polycystic liver disease 1
MedGen UID:
165781
Concept ID:
C0887850
Congenital Abnormality
Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21; PCLD3 (617874), caused by mutation in the ALG8 gene (608103) on chromosome 11p; and PCLD4 (617875), causes by mutation in the LRP5 gene (603506) on chromosome 11q13.
Campomelia, Cumming type
MedGen UID:
347864
Concept ID:
C1859371
Disease or Syndrome
The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth.
Axial osteomalacia
MedGen UID:
354730
Concept ID:
C1862372
Disease or Syndrome
Asphyxiating thoracic dystrophy 1
MedGen UID:
1648057
Concept ID:
C4551856
Congenital Abnormality
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112). See also SRTD12 (Beemer-Langer syndrome; 269860).

Professional guidelines

PubMed

Boerrigter MM, Bongers EMHF, Lugtenberg D, Nevens F, Drenth JPH
Eur J Med Genet 2021 Mar;64(3):104160. Epub 2021 Feb 6 doi: 10.1016/j.ejmg.2021.104160. PMID: 33556586
van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH
J Hepatol 2018 Apr;68(4):827-837. Epub 2017 Nov 24 doi: 10.1016/j.jhep.2017.11.024. PMID: 29175241
Abu-Wasel B, Walsh C, Keough V, Molinari M
World J Gastroenterol 2013 Sep 21;19(35):5775-86. doi: 10.3748/wjg.v19.i35.5775. PMID: 24124322Free PMC Article

Recent clinical studies

Etiology

Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J
Gastroenterology 2024 May;166(5):902-914. Epub 2023 Dec 13 doi: 10.1053/j.gastro.2023.12.007. PMID: 38101549
Yang H, Sieben CJ, Schauer RS, Harris PC
Adv Kidney Dis Health 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. PMID: 38097330Free PMC Article
Waddell SH, Yao Y, Olaizola P, Walker A, Jarman EJ, Gournopanos K, Gradinaru A, Christodoulou E, Gautier P, Boerrigter MM, Cadamuro M, Fabris L, Drenth JP, Kendall TJ, Banales JM, Khamseh A, Mill P, Boulter L
Sci Transl Med 2023 Sep 13;15(713):eabq5930. doi: 10.1126/scitranslmed.abq5930. PMID: 37703354Free PMC Article
van de Laarschot LFM, Drenth JPH
Biochim Biophys Acta Mol Basis Dis 2018 Apr;1864(4 Pt B):1491-1497. Epub 2017 Aug 4 doi: 10.1016/j.bbadis.2017.08.003. PMID: 28782656
Masyuk TV, Masyuk AI, LaRusso NF
Curr Drug Targets 2017;18(8):950-957. doi: 10.2174/1389450116666150427161743. PMID: 25915482Free PMC Article

Diagnosis

Boerrigter MM, Bongers EMHF, Lugtenberg D, Nevens F, Drenth JPH
Eur J Med Genet 2021 Mar;64(3):104160. Epub 2021 Feb 6 doi: 10.1016/j.ejmg.2021.104160. PMID: 33556586
van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH
J Hepatol 2018 Apr;68(4):827-837. Epub 2017 Nov 24 doi: 10.1016/j.jhep.2017.11.024. PMID: 29175241
Abu-Wasel B, Walsh C, Keough V, Molinari M
World J Gastroenterol 2013 Sep 21;19(35):5775-86. doi: 10.3748/wjg.v19.i35.5775. PMID: 24124322Free PMC Article
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article
Chandok N
Ann Hepatol 2012 Nov-Dec;11(6):819-26. PMID: 23109444

Therapy

Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J
Gastroenterology 2024 May;166(5):902-914. Epub 2023 Dec 13 doi: 10.1053/j.gastro.2023.12.007. PMID: 38101549
Masyuk TV, Masyuk AI, LaRusso NF
Curr Drug Targets 2017;18(8):950-957. doi: 10.2174/1389450116666150427161743. PMID: 25915482Free PMC Article
D'Agnolo HM, Kievit W, Takkenberg RB, Riaño I, Bujanda L, Neijenhuis MK, Brunenberg EJ, Beuers U, Banales JM, Drenth JP
J Hepatol 2016 Sep;65(3):601-7. Epub 2016 May 17 doi: 10.1016/j.jhep.2016.05.009. PMID: 27212247
Chandok N
Ann Hepatol 2012 Nov-Dec;11(6):819-26. PMID: 23109444
Masyuk T, Masyuk A, LaRusso N
Curr Opin Gastroenterol 2009 May;25(3):265-71. doi: 10.1097/MOG.0b013e328328f4ff. PMID: 19349863Free PMC Article

Prognosis

Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J
Gastroenterology 2024 May;166(5):902-914. Epub 2023 Dec 13 doi: 10.1053/j.gastro.2023.12.007. PMID: 38101549
Boerrigter MM, Duijzer R, Te Morsche RHM, Drenth JPH
Genes (Basel) 2023 Sep 2;14(9) doi: 10.3390/genes14091755. PMID: 37761895Free PMC Article
Boerrigter MM, Te Morsche RHM, Venselaar H, Pastoors N, Geerts AM, Hoorens A, Drenth JPH
Genes (Basel) 2023 Aug 19;14(8) doi: 10.3390/genes14081652. PMID: 37628703Free PMC Article
Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y
J Am Soc Nephrol 2018 Oct;29(10):2593-2600. Epub 2018 Aug 22 doi: 10.1681/ASN.2018050493. PMID: 30135240Free PMC Article
Abu-Wasel B, Walsh C, Keough V, Molinari M
World J Gastroenterol 2013 Sep 21;19(35):5775-86. doi: 10.3748/wjg.v19.i35.5775. PMID: 24124322Free PMC Article

Clinical prediction guides

Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA; Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J
Gastroenterology 2024 May;166(5):902-914. Epub 2023 Dec 13 doi: 10.1053/j.gastro.2023.12.007. PMID: 38101549
Boerrigter MM, Duijzer R, Te Morsche RHM, Drenth JPH
Genes (Basel) 2023 Sep 2;14(9) doi: 10.3390/genes14091755. PMID: 37761895Free PMC Article
Boerrigter MM, Te Morsche RHM, Venselaar H, Pastoors N, Geerts AM, Hoorens A, Drenth JPH
Genes (Basel) 2023 Aug 19;14(8) doi: 10.3390/genes14081652. PMID: 37628703Free PMC Article
Abu-Wasel B, Walsh C, Keough V, Molinari M
World J Gastroenterol 2013 Sep 21;19(35):5775-86. doi: 10.3748/wjg.v19.i35.5775. PMID: 24124322Free PMC Article
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article

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