Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes <i>PKD1</i> or <i>PKD2</i> (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by <i>PKHD1</i> (encoding fibrocystin/polyductin [FPC]).
|
31427367 |
2019 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
CLINVAR |
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
|
26453610 |
2016 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
CLINVAR |
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
|
26632257 |
2015 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
|
25333066 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
Biomarker
|
disease |
MGD |
Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models.
|
24700869 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
|
24374109 |
2014 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
Biomarker
|
disease |
BEFREE |
Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion.
|
23624871 |
2013 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
A missense mutation in PKD1 attenuates the severity of renal disease.
|
22031115 |
2012 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
|
22508176 |
2012 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.
|
21551026 |
2011 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD).
|
22034641 |
2011 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Clinically, a small percentage of TSC patients develop severe infantile polycystic kidney disease (PKD), which is believed to be caused by deletion of the contiguous TSC2 and PKD1 genes on human chromosome 16.
|
19692352 |
2009 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
|
17574468 |
2007 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
|
17582161 |
2007 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
|
17582161 |
2007 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
CLINVAR |
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
|
17574468 |
2007 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
Biomarker
|
disease |
MGD |
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis.
|
11818962 |
2002 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
|
11115377 |
2001 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
|
10729710 |
2000 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Renal tubules are predisposed to cystogenesis when a germ line mutation is inherited in either the human PKD1 or PKD2 genes in autosomal dominant polycystic kidney disease (ADPKD) or when a homozygous mutation in Tg737 is inherited in the orpk mouse model of autosomal recessive polycystic kidney disease (ARPKD).
|
10200981 |
1999 |
Autosomal Recessive Polycystic Kidney Disease
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
|
7894481 |
1994 |