Details of Disease

General Information of Disease (ID: DISHMZMZ)

• Disease Name: Dihydropyrimidinuria
• Synonyms: DPYSD; Dpys deficiency; Dph deficiency; dihydropyrimidinuria; dihydropyrimidinase deficiency
• Definition: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
• Disease Hierarchy:
  DIS2T2XO: Inborn disorder of pyrimidine metabolism
  DISHMZMZ: Dihydropyrimidinuria
• Disease Identifiers:
  MONDO ID: MONDO_0009111
  MESH ID: C562815
  UMLS CUI: C0342803
  OMIM ID: 222748
  MedGen ID: 83353
  Orphanet ID: 38874
  SNOMED CT ID: 238014002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPYS	OTLTUIVL	Strong	Autosomal recessive	[1]

References

• [1] Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1.