Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Polycystic kidney and hepatic disease 1 gene

The PKHD1 gene that encodes fibrocystin is responsible for autosomal recessive polycystic kidney and liver disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Polycystic kidney disease 4
PKHD1
Caroli disease
PKHD1

References:

1.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

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2.

Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

external link
3.

Onuchic LF et al. (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

external link
4.

Sharp AM et al. (2005) Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

external link
5.

Losekoot M et al. (2005) Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

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6.

Orphanet article

Orphanet ID 117853 external link
7.

NCBI article

NCBI 5314 external link
8.

OMIM.ORG article

Omim 606702 external link
9.

Wikipedia article

Wikipedia EN (Fibrocystin) external link
Update: Aug. 14, 2020
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