Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Preferred Label : Glomerulocystic kidney disease with hyperuricemia and isosthenuria;

Obsolete resource : true;

Moved to : 137920; 162000;

Type : Phenotype, molecular basis known;

Description : 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 infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (189907) as part of the clinical phenotype of renal cysts and diabetes syndrome (137920).;

Prefixed ID : 609886;

Details

Origin ID

609886;

UMLS CUI

C1835934;

Currated CISMeF NLP mapping
- glomerulocystic kidney disease with hyperuricemia and isosthenuria [MeSH concept]
- glomerulocystic kidney disease with hyperuricemia and isosthenuria [MeSH Supplementary Concept]
HPO term(s)
- Abnormal renal tubule morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hyperuricemia [HPO term]
- Multiple glomerular cysts [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glomerulocystic kidney disease with hyperuricemia and isosthenuria [MeSH Supplementary Concept]
- glomerulocystic kidney disease with hyperuricemia and isosthenuria [MeSH concept]

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