POLYCYSTIC KIDNEY DISEASE 2

General Information (adopted from Orphanet):

Synonyms, Signs: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II
APKD2
PKD2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613095
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
2
(HPO:0000083) Renal insufficiency 232 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM A form of adult polycystic kidney disease that is inherited as an autosomal dominant and is seemingly phenotypically identical to the chromosome 16-linked PKD1 (601313) has been observed in several kindreds. Kimberling et al. (1988) described a 5-generation ...
Molecular genetics OMIM Mochizuki et al. (1996) reported the isolation and characterization of a candidate gene for PKD2 on chromosome 4. They analyzed the PKD2 gene in affected individuals in 3 families with PKD2. Three nonsense mutations in the PKD2 gene ...