3-hydroxyanthranilic acid 3,4-dioxygenase deficiency

Synonym(s)
- Vertebral, cardiac, renal, and limb defects syndrome type 1
Type

Disease
External link(s)
- IEMbase
Gene
- HAAO / Hydroxyanthranilate 3,4-dioxygenase
  2p21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Hydroxyanthranilate 3,4-dioxygenase
Pathway
- Lysine, hydroxylysine, and tryptophan metabolism
Disease group(s)
- 1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism