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disease: Alkaptonuria

id102
nameAlkaptonuria
descriptionAlkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Oxidation of the HGA excreted in the urine produces a melanin-like product and causes the urine to turn dark on standing. Ochronosis occurs only after age 30 years; arthritis often begins in the third decade. Other manifestations include pigment deposition, aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation, renal stones, and prostate stones.
variant-disease NM_000187.3(HGD):c.16-1G>A AND Alkaptonuria
NM_000187.3(HGD):c.808G>A (p.Gly270Arg) AND Alkaptonuria
NM_000187.3(HGD):c.31_32delGGinsATT (p.Gly11Ilefs) AND Alkaptonuria
NM_000187.3(HGD):c.346delC (p.Leu116Cysfs) AND Alkaptonuria
NM_000187.3(HGD):c.-207G>A AND Alkaptonuria
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