GCKDHI
MCID: GLM024
MIFTS: 15
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Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (GCKDHI)
Categories:
Genetic diseases, Nephrological diseases
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MalaCards integrated aliases for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:
Characteristics:HPO:32
glomerulocystic kidney disease with hyperuricemia and isosthenuria:
Inheritance autosomal dominant inheritance Classifications: |
OMIM
:
57
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). (609886)
MalaCards based summary : Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria, is also known as kidney disease, glomerulocystic, with hyperuricemia and isosthenuria. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (Uromodulin). Affiliated tissues include kidney, and related phenotypes are renal insufficiency and hyperuricemia UniProtKB/Swiss-Prot : 75 Glomerulocystic kidney disease with hyperuricemia and isosthenuria: A renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability. |
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Human phenotypes related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:32
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MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:41
Kidney
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UniProtKB/Swiss-Prot genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:75
ClinVar genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:6
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Search
GEO
for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.
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