INT164753

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Context Info
Confidence 0.58
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 2
Total Number 7
Disease Relevance 5.13
Pain Relevance 0.20

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

endosome (Clcn5) transport (Clcn5) Golgi apparatus (Clcn5)
plasma membrane (Clcn5) transmembrane transport (Clcn5)
Anatomy Link Frequency
duct 1
tubule 1
kidney 1
urine 1
Clcn5 (Mus musculus)
Pain Link Frequency Relevance Heat
imagery 3 91.72 High High
anesthesia 1 83.44 Quite High
Glutamate 6 63.40 Quite High
Sicca syndrome 6 5.00 Very Low Very Low Very Low
fibrosis 6 5.00 Very Low Very Low Very Low
Pain 6 5.00 Very Low Very Low Very Low
medulla 6 5.00 Very Low Very Low Very Low
abdominal pain 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Targeted Disruption 20 99.96 Very High Very High Very High
Hyperthyroidism 6 99.16 Very High Very High Very High
Disease 300 97.36 Very High Very High Very High
Kidney Stones 246 96.60 Very High Very High Very High
Nephrocalcinosis 84 95.84 Very High Very High Very High
Sprains And Strains 18 87.48 High High
Dent Disease 114 85.60 High High
Congenital Anomalies 18 84.72 Quite High
Familial Hypophosphatemia 12 83.20 Quite High
Proteinuria 96 82.44 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Studies in mice have demonstrated that inactivation of ClC-5 is associated with a severe trafficking defect in PT cells, with loss of megalin and cubilin at the brush border, subsequent loss of their ligands in the urine, and impaired lysosomal processing [22,23,27].
Negative_regulation (inactivation) of ClC-5 in urine
1) Confidence 0.58 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.68 Pain Relevance 0.03
Furthermore, genetic inactivation of the Clcn5 gene in mice mimics the severe PT dysfunction observed in Dent's disease, including hypercalciuria and nephrocalcinosis (see below).
Negative_regulation (inactivation) of Clcn5 associated with kidney stones, disease and nephrocalcinosis
2) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.66 Pain Relevance 0
For instance, it has been suggested that collecting duct cells lacking ClC-5 may show an impaired ability of internalization of calcium crystals adhering to apical cell surface [35].
Negative_regulation (lacking) of ClC-5 in duct
3) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 1.02 Pain Relevance 0
The hypercalciuria observed in patients with Dent's disease and some ClC-5-deficient mice may be secondary to the PT dysfunction (urinary loss of vitamin D binding protein and reduced phosphate absorption, leading to increased 1,25(OH)2-vitamin D3 synthesis) or, at least in part, caused by the functional loss of ClC-5 in the TAL.
Negative_regulation (loss) of ClC-5 associated with disease and kidney stones
4) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.98 Pain Relevance 0
In summary, we can hypothesize that the functional loss of ClC-5 is essentially reflected by manifestations of PT dysfunction and may contribute to the genesis of kidney stones in different ways, reflecting its involvement in specific tubular functions.
Negative_regulation (loss) of ClC-5 in kidney associated with kidney stones
5) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.90 Pain Relevance 0
Mice lacking ClC-5 develop a euthyroid goiter, which results from impaired apical iodide efflux (secondary to down-regulated pendrin) rather than defective apical endocytosis [37].
Negative_regulation (lacking) of ClC-5 associated with hyperthyroidism
6) Confidence 0.43 Published 2010 Journal Orphanet J Rare Dis Section Body Doc Link PMC2964617 Disease Relevance 0.67 Pain Relevance 0
The cortical uptake of (99m)Tc-DMSA was abolished in Clcn5 knockout mice, a model of proximal tubule dysfunction.
Negative_regulation (abolished) of Clcn5 in tubule associated with targeted disruption
7) Confidence 0.37 Published 2010 Journal Am. J. Physiol. Renal Physiol. Section Abstract Doc Link 19955188 Disease Relevance 0.23 Pain Relevance 0.17

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