HAAO 3-hydroxyanthranilate 3,4-dioxygenase

Gene info



Previous symbol


External ID

HGNC: 4796
Entrez Gene: 23498
Ensembl: ENSG00000162882
UCSC: uc002rst.5
OMIM: 604521
UniProtKB: P46952

Disease info

CHD Phenotype

  • Atrial septal defect
  • Hypoplastic left heart syndrome
  • Aortic stenosis
  • Mitral stenosis
  • Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis
  • Lsvc and left pulmonary artery arising from the ductus arteriosus
  • Shone syndrome with aortic coarctation

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous mice under dietary restriction have CHD; Metabolomic assessment of patients show disruption of NAD synthesis


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for HAAO: BED file

Genome browser powered by igv.js

Selected References

  1. Szot, J. O., Slavotinek, A., Chong, K., Brandau, O., Nezarati, M., Cueto‐González, A. M., Patel, M. S., Devine, W. P., Rego, S., Acyinena, A. P., Shannon, P., Myles‐Reid, D., Blaser, S., Mieghem, T. V., Yavuz‐Kienle, H., Skladny, H., Miller, K., Riera, M. D. T., … Martínez, S. A. (2021). New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42(7), 862–876. Portico. https://doi.org/10.1002/humu.24211 DOI:10.1002/humu.24211 PMID:33942433