hawkinsinuria
Findings
No curated finding names hawkinsinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
Definition from the Mondo Disease Ontology (MONDO:0007700), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 4-hydroxyphenylacetic aciduriaHPOHP:0003607
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- 4-Hydroxyphenylpyruvic aciduriaHPOHP:0003161
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HawkinsinuriaHPOHP:0034457
- 2 of 2 reported patients
- HypertyrosinemiaHPOHP:0003231
- 2 of 2 reported patients
- Abnormal circulating tyrosine concentrationHPOHP:0010917
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 2 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Mild intellectual disabilityHPOHP:0001256
- 1 of 3 reported patients
- RestlessnessHPOHP:0000711
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HPDHGNC:5147
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: hawkinsinuria
- Also called
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency4-HPPD deficiency4-hydroxyphenylpyruvic acid dioxygenase deficiency