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HAAO

Synonyms
3-HAO, HAO, VCRL1, h3HAO
External resources
Summary
3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
0
VUS
5,043
Likely benign
1,700
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on HAAO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of head or neck
8.3%
Abnormality of limbs
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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