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GENATLAS PHENOTYPE

last update : 17/12/2008

Symbol	PKD
Location	16p13.3
Name	polycystic kidney disease 1
Corresponding gene	PKD1
Other symbol(s)	APKD, PKD1
Main clinical features	adult type, occuring by a cellular recessive mechanism supporting a two-hit model for cyst formation (somatic mutation with LOH of PKD1 or in (rare) cases, a somatic mutation in PKD2 generating a heterozygous state with mutations in both genes in the cysts), associated with liver and pancreatic cysts
Genetic determination	autosomal dominant
Prevalence	1 / 1000
Related entries	. including some severe forms with intracranial aneurysms (5' mutation commonly associated with vascular disease) and/or a very early onset related to a 2bp deletion in exon 15 of PKD1 gene
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name

polycystin 1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments

insertion-deletion		truncated protein

Remark(s)

loss of PKD1 function is sufficient to produce centrosome amplification and multipolar spindle formation

dysregulation in non-cystic tubular cells suggest that the loss of centrosome integrity may be an early component of the cystogenetic mechanism

cysts are the benign tumors that result when normal PKD11 functional expression is inactivated

mutation undergoing a cleavage resulting in the intracellular release of its C-terminal tail (CTT)

Genotype/Phenotype correlations

subarachnoidal hemorrhage or brain aneurysm, where mutations were located more often at the 5 prime end of the PKD1 gene than at the 3 prime end