HAAO 3-hydroxyanthranilate 3,4-dioxygenase

Gene info

Synonyms

3-hydroxyanthranilic-acid dioxygenase

Previous symbol

None

External ID

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

Disease info

Disease

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

No

Variable expressivity

Yes

Animal model

Mouse study

1

MGI ID

1349444

Variant info

Clinvar

HAAO

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., Lim, C. K., Szot, J. O., Ip, E., Hughes, J. N., Sugimoto, K., Humphreys, D. T., McInerney-Leo, A. M., Leo, P. J., Maghzal, G. J., Halliday, J., Smith, J., Colley, A., Mark, P. R., … Dunwoodie, S. L. (2017). NAD Deficiency, Congenital Malformations, and Niacin Supplementation. New England Journal of Medicine, 377(6), 544–552. https://doi.org/10.1056/nejmoa1616361 DOI:10.1056/NEJMoa1616361 PMID:28792876
  2. 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., … Dunwoodie, S. L. (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