POLYCYSTIC KIDNEY DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: APKD, INCLUDED
POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, INCLUDED
POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I
APKD1 POLYCYSTIC KIDNEY DISEASE, ADULT, INCLUDED
PKD1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 173900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000800) Cystic renal dysplasia 31 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
4
(HPO:0001407) Hepatic cysts 9 / 7739
5
(HPO:0002253) Colonic diverticula 12 / 7739
6
(HPO:0001726) Increased prevalence of valvular disease 1 / 7739
7
(HPO:0004944) Cerebral aneurysm 12 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Adult polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Genetic heterogeneity is recognized, with one locus (PKD1), responsible for the most common form.

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Clinical Description OMIM The phenotypic variability in APKD involves differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease (ESRD), and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. ...
Genotype-Phenotype Correlations OMIM Familial clustering of intracranial aneurysms suggested that genetic factors are important in the etiology of ADPKD. Rossetti et al. (2003) characterized mutations in 58 ADPKD families with vascular complications; 51 were PKD1 (88%) and 7 were PKD2 (12%). ...
Molecular genetics OMIM The European Polycystic Kidney Disease Consortium (1994) isolated the PKD1 gene, which they called PBP for 'polycystic breakpoint', by analysis of the translocation breakpoint in a family with polycystic kidney disease. The mother and daughter, who both carried ...
Population genetics OMIM Dalgaard (1957) published a comprehensive landmark study in Denmark which showed that autosomal dominant PKD is one of the most common genetic diseases in humans (approximately 1 in 1,000 individuals affected).

In Wales, Davies et al. ...