GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 609886
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:0000091) Abnormality of the renal tubule 15 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0100611) Multiple glomerular cysts 2 / 7739
4
 (HPO:0002149) Hyperuricemia 37 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in ...
Clinical Description OMIM Sharp et al. (1997) reported a 3-generation African American family in which 7 affected individuals out of 20 available for study were identified by renal sonogram or renal histopathology. GCKD in this family was transmitted as an autosomal ...
Molecular genetics OMIM Rampoldi et al. (2003) described a missense mutation (191845.0010) in the UMOD gene in a family with GCKD. Patients had cyst dilatation and collapse of glomeruli with hyperuricemia and isosthenuria (urine concentration impairment); the latter two features are ...