INT122860

Context Info Confidence 0.57 First Reported 2004 Last Reported 2009 Negated 0 Speculated 0 Reported most in Abstract Documents 3 Total Number 3 Disease Relevance 2.03 Pain Relevance 0.42

cytosol (HGD) small molecule metabolic process (HGD) oxidoreductase activity (HGD) cellular nitrogen compound metabolic process (HGD) cellular amino acid metabolic process (HGD)

Anatomy Link Frequency connective tissue 1 HGD (Homo sapiens)

Pain Link Frequency Relevance Heat colic 1 82.40 anesthesia 4 75.00 Pain 1 75.00 backache 1 74.56 epidural 1 55.84 rheumatoid arthritis 1 25.00 Arthritis 1 25.00 spinal inflammation 1 25.00

Disease Link Frequency Relevance Heat Ochronosis 9 99.72 Metabolic Disorder 1 98.64 Alkaptonuria 10 98.48 Arthropathy 1 95.00 Valvular Heart Disease Other Than Mitral Valve Prolapse 1 87.04 Emergencies 1 84.96 Pigment Disorder 3 84.16 Renal Colic 1 82.88 Calculi 1 78.72 Low Back Pain 2 75.04

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Alkaptonuria, a rare autosomal-recessive disorder caused by mutations in the HGD gene and a deficiency of homogentisate 1,2-dioxygenase, is characterized by accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue resulting in joint disease.

Negative_regulation (deficiency) of homogentisate 1,2-dioxygenase in connective tissue associated with alkaptonuria, arthropathy and ochronosis

1) Confidence 0.57 Published 2004 Journal Arthritis Rheum. Section Abstract Doc Link 15529343 Disease Relevance 0.87 Pain Relevance 0.07

Alkaptonuric ochronosis, caused by a deficiency of homogentisate 1,2-dioxygenase, is a rare, autosomal recessive, metabolic disorder.

Negative_regulation (deficiency) of homogentisate 1,2-dioxygenase associated with metabolic disorder and ochronosis

2) Confidence 0.57 Published 2008 Journal Masui Section Abstract Doc Link 18416199 Disease Relevance 0.57 Pain Relevance 0.23

Alkaptonuria is a rare recessive disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme homogentisate 1,2-dioxygenase (HGD) caused by mutations in the HGD gene.

Negative_regulation (defect) of homogentisate 1,2-dioxygenase associated with alkaptonuria

3) Confidence 0.42 Published 2009 Journal Clin. Chim. Acta Section Abstract Doc Link 19306858 Disease Relevance 0.59 Pain Relevance 0.12

General Comments

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