INT3496

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Context Info
Confidence 0.58
First Reported 1976
Last Reported 2010
Negated 0
Speculated 6
Reported most in Body
Documents 7
Total Number 34
Disease Relevance 25.05
Pain Relevance 1.92

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

cytosol (HPRT1) small molecule metabolic process (HPRT1) transferase activity, transferring glycosyl groups (HPRT1)
cytoplasm (HPRT1)
Anatomy Link Frequency
juvenile 1
fibroblasts 1
stem cells 1
urine 1
neural 1
HPRT1 (Homo sapiens)
Pain Link Frequency Relevance Heat
imagery 52 99.36 Very High Very High Very High
anesthesia 85 98.20 Very High Very High Very High
Arthritis 86 93.04 High High
Dopamine 214 83.68 Quite High
Neurotransmitter 104 80.84 Quite High
Inflammation 30 80.84 Quite High
adenocard 56 62.92 Quite High
Pain 27 57.64 Quite High
Central nervous system 26 54.68 Quite High
Serotonin 52 47.04 Quite Low
Disease Link Frequency Relevance Heat
Congenital Anomalies 81 100.00 Very High Very High Very High
Neurologic Manifestations 183 99.76 Very High Very High Very High
Syndrome 733 99.74 Very High Very High Very High
Hiatal Hernia 26 99.20 Very High Very High Very High
Hyperuricemia 346 99.16 Very High Very High Very High
Disease 244 99.08 Very High Very High Very High
Crystal Associated Disease 266 98.96 Very High Very High Very High
Renal Disease 58 98.84 Very High Very High Very High
Dystonia 338 98.44 Very High Very High Very High
Encephalopathy 52 98.32 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In 1967 Seegmiller, Rosenbloom and Kelly reported a complete deficiency of HPRT activity as the cause of the Lesch-Nyhan syndrome [2].
Negative_regulation (deficiency) of HPRT associated with syndrome
1) Confidence 0.58 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.64 Pain Relevance 0
Since LND is a rare, inherited disorder caused by a deficiency of the enzyme HPRT, human neural stem cells (hNSCs) that carry this mutation are a precious source for delineating the consequences of HPRT deficiency and for developing new treatments.
Negative_regulation (deficiency) of HPRT in stem cells
2) Confidence 0.43 Published 2010 Journal Hum. Mol. Genet. Section Abstract Doc Link 20159777 Disease Relevance 0.07 Pain Relevance 0.09
These cells combine the peculiarity of a neurodevelopmental model and a human, neural origin to provide an important tool to investigate the pathophysiology of HPRT deficiency and more broadly demonstrate the utility of human neural stem cells for studying the disease and identifying potential therapeutics.
Spec (investigate) Negative_regulation (deficiency) of HPRT in neural associated with disease
3) Confidence 0.43 Published 2010 Journal Hum. Mol. Genet. Section Abstract Doc Link 20159777 Disease Relevance 0.42 Pain Relevance 0.19
Human HPRT deficiency leads to two major forms of human disease.
Negative_regulation (deficiency) of HPRT associated with disease
4) Confidence 0.43 Published 1986 Journal Horiz Biochem Biophys Section Abstract Doc Link 2875930 Disease Relevance 0.51 Pain Relevance 0.17
On the other side of the spectrum, a patient with juvenile gout and elevated urinary uric acid excretion may also suffer HPRT deficiency.


Negative_regulation (deficiency) of HPRT in juvenile associated with crystal associated disease
5) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 1.34 Pain Relevance 0
To better characterize the HPRT deficiency, enzyme activity can be measured in intact cells (erythrocytes or fibroblasts).
Negative_regulation (deficiency) of HPRT in fibroblasts
6) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.06 Pain Relevance 0
Most female carriers for HPRT deficiency can be differentiated from non-carriers when 24-h urine samples are analysed after a 5-day purine-restricted diet: carriers have significantly higher urinary excretion rates of hypoxanthine and xanthine [71].
Negative_regulation (deficiency) of HPRT in urine
7) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.56 Pain Relevance 0
Inheritance of HPRT deficiency is X-linked recessive.
Negative_regulation (deficiency) of HPRT
8) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.81 Pain Relevance 0
Documented mutations in HPRT deficiency show a high degree of heterogeneity in type and location within the gene: deletions, insertions, duplications, and point mutations have been described as the cause of HPRT deficiency.
Negative_regulation (deficiency) of HPRT
9) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.18 Pain Relevance 0
The deficiency of the enzymatic activity of hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8; HPRT) is associated with two OMIM items.
Negative_regulation (deficiency) of hypoxanthine-guanine phosphoribosyltransferase
10) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.44 Pain Relevance 0
Other classifications include three groups: classical Lesch-Nyhan or complete deficiency (LN); HPRT deficiency with neurological manifestations or HPRT related hyperuricemia with neurological disability (HRND), and HPRT-related hyperuricemia (HRH) for partial patients with no evident neurological manifestations [17].
Spec (partial) Negative_regulation (deficiency) of HPRT associated with hyperuricemia and neurologic manifestations
11) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 1.11 Pain Relevance 0
Lesch-Nyhan syndrome (OMIM 300322) corresponds with virtually complete HPRT deficiency and was described by M.
Negative_regulation (deficiency) of HPRT associated with syndrome
12) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.54 Pain Relevance 0
This patient was later shown to suffer HPRT deficiency.


Negative_regulation (deficiency) of HPRT
13) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 1.62 Pain Relevance 0
Allopurinol is efficacious and generally safe for the treatment of uric acid overproduction in patients with HPRT deficiency [55].
Negative_regulation (deficiency) of HPRT
14) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.51 Pain Relevance 0.12
Allopurinol-related biochemical changes are similar in patients with either complete or partial HPRT deficiency.
Spec (partial) Negative_regulation (deficiency) of HPRT
15) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.34 Pain Relevance 0.08
HPRT deficiency must be confirmed by enzymatic determinations [56].
Negative_regulation (deficiency) of HPRT
16) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.08 Pain Relevance 0.05
This same year, Kelly, Greene, Rosenbloom, Henderson and Seegmiller described a partial deficiency of HPRT activity associated with gout and no neurological involvement [3,4].
Spec (partial) Negative_regulation (deficiency) of HPRT associated with crystal associated disease
17) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.80 Pain Relevance 0
Nephrolithiasis and obstructive nephropathy are common early manifestations in patients with partial HPRT deficiency.
Spec (partial) Negative_regulation (deficiency) of HPRT associated with renal disease and kidney stones
18) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.67 Pain Relevance 0.15
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency.

Negative_regulation (deficiency) of Hypoxanthine-guanine phosophoribosyltransferase associated with syndrome and neurologic manifestations
19) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Title Doc Link PMC2234399 Disease Relevance 1.01 Pain Relevance 0
The diagnosis of HPRT deficiency must be supported by clinical, biochemical, enzymatic and molecular data.
Negative_regulation (deficiency) of HPRT
20) Confidence 0.43 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2234399 Disease Relevance 0.62 Pain Relevance 0.20

General Comments

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