Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Caroli disease

Congenital polycystic dilatation of intrahepatic bile ducts is called Caroli syndrome. This disorder may be caused by PKHD1 mutations (autosomal dominant) but isolated forms have been described not yet etiologically characterized.

Systematic

Hereditary liver disease
Aceruloplasminemia/Hypoceruloplasminemia
Budd-Chiari syndrome
Caroli disease
PKHD1
Fabry disease
Genetic hyperbilirubinemia
Hemochromatosis
Hepatocellular carcinoma
Ivemark syndrome
Polycystic liver disease

References:

1.

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2.

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8.

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9.

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10.

Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

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11.

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12.

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13.

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15.

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16.

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17.

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18.

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19.

Davisson MT et al. (1991) The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.

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20.

Martínez-Frías ML et al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.

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21.

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22.

Ramsay M et al. (1988) Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic.

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23.

Zerres K et al. (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

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24.

Kaplan BS et al. (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

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25.

Wirth B et al. (1987) Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

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26.

Cowley BD et al. (1987) Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease.

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27.

Kääriäinen H et al. (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

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28.

Luthy DA et al. (1985) Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis.

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29.

Gang DL et al. (1986) Infantile polycystic disease of the liver and kidneys.

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30.

Adams CM et al. (1974) Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver.

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31.

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32.

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33.

Turnberg LA et al. (1968) Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree.

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34.

Blyth HM et al. (1969) A clinico-pathological and family study of polycystic disease of the kidneys and liver in children.

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35.

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36.

Mandell J et al. (1983) Congenital polycystic kidney disease. Genetically transmitted infantile polycystic kidney disease in C57BL/6J mice.

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37.

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38.

Naveh Y et al. (1980) Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.

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39.

Deget F et al. (1995) Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

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40.

Guay-Woodford LM et al. (1995) The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

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41.

Iakoubova OA et al. (1995) Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity.

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42.

Zerres K et al. (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

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43.

Mücher G et al. (1994) Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12.

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44.

Simon EA et al. (1994) The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.

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45.

Nakamura T et al. (1993) Growth factor gene expression in kidney of murine polycystic kidney disease.

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46.

Ros E et al. (1993) Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome.

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47.

Moyer JH et al. (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

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48.

Atala A et al. (1993) Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys.

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49.

Gattone VH et al. (1996) Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.

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50.

Nagao S et al. (1995) Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9.

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51.

Woo DD et al. (1997) Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.

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52.

Richards WG et al. (1998) Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease.

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Update: Sept. 26, 2018