3A03.0

ICD-11 MMS 2026-01

Hereditary orotic aciduria

Description

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13.

Index terms

  • Hereditary orotic aciduria
  • Orotaciduric anaemia
  • orotic aciduria NOS
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  • orotic aciduria anaemia
  • orotic aciduria megaloblastic anaemia
  • Hereditary orotic aciduria type 1
  • Combined orotate phosphoribosyltransferase and orotate-5-phosphate decarboxylase deficiency
  • Uridine monophosphate synthase deficiency
  • deficiency of orotate phosphoribosyltransferase
  • deficiency of orotidylic acid phosphorylase
  • Hereditary orotic aciduria type 2
  • Orotidine-5-phosphate decarboxylase deficiency
  • Orotidylic decarboxylase deficiency

Exclusions from above levels

  • 04 – Diseases of the immune system
  • 05 – Endocrine, nutritional or metabolic diseases
  • 18 – Complications of pregnancy, childbirth or the puerperium
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  • 19 – Certain conditions originating in the perinatal period
  • 20 – Congenital malformations, deformations or chromosomal abnormalities
  • 22 – Injury, poisoning or certain other consequences of external causes
  • http://id.who.int/icd/entity/1000704511 – Human immunodeficiency virus disease
  • JB64.1 – Other diseases of the blood or blood-forming organs or certain disorders involving the immune mechanism complicating pregnancy, childbirth or the puerperium

Sibling codes

  • 3A03.1 – Protein deficiency anaemia
  • 3A03.2 – Scorbutic anaemia
  • 3A03.3 – Copper deficiency anaemia
  • 3A03.4 – Acquired other vitamin B deficiency anaemia
  • 3A03.5 – Acquired vitamin A deficiency anaemia
  • 3A03.6 – Acquired vitamin E deficiency anaemia
  • 3A03.Y – Other and unspecified nutritional or metabolic anaemia

Foundation entity

Hereditary orotic aciduria – http://id.who.int/icd/entity/449856959

Part of: 3A03: Certain nutritional or metabolic anaemias › 03: Diseases of the blood or blood-forming organs