INT19804

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Context Info
Confidence 0.59
First Reported 1990
Last Reported 2010
Negated 0
Speculated 1
Reported most in Abstract
Documents 18
Total Number 27
Disease Relevance 20.60
Pain Relevance 2.17

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

cytosol (Hprt) transferase activity, transferring glycosyl groups (Hprt) cytoplasm (Hprt)
Anatomy Link Frequency
blood cells 1
Hprt (Mus musculus)
Pain Link Frequency Relevance Heat
anesthesia 149 99.76 Very High Very High Very High
Neurobehavioral 2 94.92 High High
Clonidine 4 72.00 Quite High
colic 9 18.72 Low Low
cerebral cortex 9 17.52 Low Low
Dopamine 45 5.00 Very Low Very Low Very Low
midbrain 9 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Targeted Disruption 25 99.86 Very High Very High Very High
Disease 932 99.50 Very High Very High Very High
Syndrome 124 99.24 Very High Very High Very High
Neurological Disease 14 99.04 Very High Very High Very High
Intellectual Impairment 5 98.96 Very High Very High Very High
Anaemia 3 98.96 Very High Very High Very High
Cerebral Palsy 29 98.50 Very High Very High Very High
Hyperuricemia 194 98.40 Very High Very High Very High
Crystal Associated Disease 55 97.16 Very High Very High Very High
Spasticity 34 96.88 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Patients with a partial deficiency of HPRT are spared most of the neurological disorder of Lesch-Nyhan syndrome.
Negative_regulation (deficiency) of HPRT associated with neurological disease and syndrome
1) Confidence 0.59 Published 1996 Journal Nippon Rinsho Section Abstract Doc Link 8976112 Disease Relevance 0.96 Pain Relevance 0.09
Transgenic mice, deficient in HPRT activity, have been obtained but they do not show any neurological dysfunction.
Negative_regulation (deficient) of HPRT associated with targeted disruption and anesthesia
2) Confidence 0.59 Published 1996 Journal Nippon Rinsho Section Abstract Doc Link 8976112 Disease Relevance 0.86 Pain Relevance 0.18
The Lesch-Nyhan syndrome results from a complete or virtually complete deficiency of the purine salvage enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT).
Negative_regulation (deficiency) of HPRT associated with syndrome
3) Confidence 0.59 Published 1996 Journal Nippon Rinsho Section Abstract Doc Link 8976112 Disease Relevance 0.82 Pain Relevance 0.08
Congenital deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT) causes Lesch-Nyhan disease in humans, which is associated with severe and recurrent self-injurious behavior (SIB).
Negative_regulation (deficiency) of hypoxanthine-guanine phosphoribosyl transferase associated with disease
4) Confidence 0.55 Published 2002 Journal Pharmacol. Biochem. Behav. Section Abstract Doc Link 12151033 Disease Relevance 0.26 Pain Relevance 0.07
Congenital deficiency of hypoxanthine-guanine phosphoribosyl transferase (HPRT) causes Lesch-Nyhan disease in humans, which is associated with severe and recurrent self-injurious behavior (SIB).
Negative_regulation (deficiency) of HPRT associated with disease
5) Confidence 0.55 Published 2002 Journal Pharmacol. Biochem. Behav. Section Abstract Doc Link 12151033 Disease Relevance 0.26 Pain Relevance 0.07
Conclusion: Lesch-Nyhan syndrome is a devastating sex-linked recessive disorder resulting from almost complete deficiency of the activity of HPRT.
Negative_regulation (deficiency) of HPRT associated with syndrome
6) Confidence 0.50 Published 2006 Journal Acta Paediatr. Section Abstract Doc Link 17062485 Disease Relevance 1.07 Pain Relevance 0.07
Deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) may cause various clinical entities such as Lesch-Nyhan syndrome (LNS).
Negative_regulation (Deficiency) of HPRT associated with syndrome
7) Confidence 0.50 Published 2006 Journal Acta Paediatr. Section Abstract Doc Link 17062485 Disease Relevance 0.88 Pain Relevance 0.08
Lesch-Nyhan syndrome (LSN, McKusick 300322) is an X-linked genetic disease due, in its typical form, to the complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) enzyme activity.
Negative_regulation (absence) of HPRT associated with syndrome and disease
8) Confidence 0.46 Published 2004 Journal J. Inherit. Metab. Dis. Section Abstract Doc Link 15505382 Disease Relevance 0.71 Pain Relevance 0.09
The specific relationship between HPRT deficiency and the neurological dysfunction in the Lesch-Nyhan syndrome is not known, at present.
Negative_regulation (deficiency) of HPRT associated with anesthesia and syndrome
9) Confidence 0.43 Published 1996 Journal Nippon Rinsho Section Abstract Doc Link 8976112 Disease Relevance 0.96 Pain Relevance 0.16
[Complete and partial deficiency of HPRT].
Negative_regulation (deficiency) of HPRT
10) Confidence 0.43 Published 1996 Journal Nippon Rinsho Section Title Doc Link 8976112 Disease Relevance 0.93 Pain Relevance 0.14
Extreme degrees of hypoxanthine phosphoribosyltransferase (HPRT) deficiency in man are associated with gross sex-linked neurological dysfunction, gout and urinary stones (the Lesch-Nyhan or 'complete HPRT-deficiency' syndrome).
Negative_regulation (deficiency) of HPRT associated with anesthesia, syndrome, urinary calculi and crystal associated disease
11) Confidence 0.43 Published 1990 Journal Enzyme Section Abstract Doc Link 2095336 Disease Relevance 0.67 Pain Relevance 0.10
Complete deficiency of the purine recycling enzyme, hypoxanthine–guanine phosphoribosyltransferase (HPRT), causes Lesch-Nyhan disease (LND).
Negative_regulation (deficiency) of hypoxanthine-guanine phosphoribosyltransferase associated with disease
12) Confidence 0.42 Published 2010 Journal Brain Section Body Doc Link PMC2842514 Disease Relevance 0.73 Pain Relevance 0
Attenuated variants of Lesch-Nyhan disease

Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase.

Negative_regulation (deficiency) of hypoxanthine-guanine phosphoribosyltransferase associated with disease
13) Confidence 0.42 Published 2010 Journal Brain Section Title Doc Link PMC2842514 Disease Relevance 1.19 Pain Relevance 0.06
[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
Negative_regulation (Deficiencies) of HPRT
14) Confidence 0.42 Published 2008 Journal Nippon Rinsho Section Title Doc Link 18409516 Disease Relevance 0.68 Pain Relevance 0.11
Including these nine mutations, 42 HPRT1 mutations have been identified among 47 Asian families with deficiency of HPRT.
Negative_regulation (deficiency) of HPRT
15) Confidence 0.41 Published 2007 Journal Mol. Genet. Metab. Section Abstract Doc Link 17027311 Disease Relevance 0.07 Pain Relevance 0.14
A 9.5-y-old boy with the phenotypic features of LNS, including hyperuricaemia, choreoathetosis, self-mutilation and profound neurological dysfunction, was found to have HPRT deficiency.
Negative_regulation (deficiency) of HPRT associated with hyperuricemia, anesthesia, syndrome and cerebral palsy
16) Confidence 0.37 Published 2006 Journal Acta Paediatr. Section Abstract Doc Link 17062485 Disease Relevance 1.12 Pain Relevance 0.10
The virtual complete absence of HPRT activity was related to deletions, nonsense, or missense mutations leading to nonconservative amino acid changes.
Negative_regulation (absence) of HPRT
17) Confidence 0.34 Published 2004 Journal J. Inherit. Metab. Dis. Section Abstract Doc Link 15505382 Disease Relevance 0.49 Pain Relevance 0.06
Marked genetic heterogeneity of HPRT deficiency is well known.
Negative_regulation (deficiency) of HPRT
18) Confidence 0.31 Published 2008 Journal Nippon Rinsho Section Abstract Doc Link 18409516 Disease Relevance 0.69 Pain Relevance 0.15
The diagnosis of classic LND was supported by documentation of an HPRT gene mutation predicting null activity or reduced HPRT enzyme activity in fibroblasts or blood cells.
Negative_regulation (reduced) of HPRT enzyme in blood cells associated with disease
19) Confidence 0.30 Published 2010 Journal Brain Section Body Doc Link PMC2842514 Disease Relevance 1.01 Pain Relevance 0
The diagnosis of a variant form of LND required evidence for an HPRT gene mutation or reduced HPRT enzyme activity in a male patient without the self-injurious behaviour typical of classic cases.
Negative_regulation (reduced) of HPRT enzyme associated with disease
20) Confidence 0.30 Published 2010 Journal Brain Section Body Doc Link PMC2842514 Disease Relevance 0.96 Pain Relevance 0

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