Genomic coordinate 8:104,379,431
Here I present: “Dihydropyrimidiuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (DPYSD) 二氫嘧啶尿。icd10=E88.89
INTRODUCTION.
Dihydropyrimidiuria (DPYSD) is a congenital metabolic syndrome that occurs due to an enzyme deficiency of dihydropyrimidinase (Enzyme Commission number EC 3.5.2.2) in the pyrimidine degradation pathway.
Dihydropyrimidinase deficiency (DPYSD) is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of intellectual disability. Patients with the DPYSD deficiency have an severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU).
There is evidence evidence that dihydropyrimidinase deficiency is caused by homozygous or compound heterozygous mutation in the DPYS gene on cytogenetic location 8q22.3 and genomic coordinates 8:104,379,431-104,467,055. The screenshot of the DPYS gene 87,625 bp (base pairs) of DNA sequence length is shown BENEATH. Nine (9) other genes DPYS in the 8q22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:103,398,638 | SLC25A32 | Solute carrier family 25 member 32 |
| 8:103,415,386 | DCAF13 | DDB1- and CUL4-associated factor 13 |
| 8:103,500,610 | RIMS2 | Regulating synaptic membrane exocytosis-2 |
| 8:104,339,796 | DCSTAMP | Dendrocyte-expressed 7-transmembrane protein |
| 8:104,379,431 | DPYS | Dihydropyrimidinase |
| 8:104,489,236 | LRP12 | Low density lipoprotein receptor protein 12 |
| 8:105,100,001 | CRCS6 | Colorectal cancer, susceptibility to, 6 |
| 8:105,100,001 | GLC1D | Glaucoma 1, open angle, D |
| 8:105,100,001 | HDLCQ2 | High density lipoprotein cholesterol level QTL 2 |
| 8:105,100,001 | HT | Hashimoto thyroiditis |
