Details of Disease

General Information of Disease (ID: DISV2HVN)

Disease Name Hawkinsinuria
Synonyms 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; hawkinsinuria; 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency
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.
Disease Hierarchy
DISQGNHK: Disorder of tyrosine metabolism
DISV2HVN: Hawkinsinuria
Disease Identifiers
MONDO ID
MONDO_0007700
MESH ID
C535845
UMLS CUI
C2931042
OMIM ID
140350
MedGen ID
419319
HPO ID
HP:0034457
Orphanet ID
2118
SNOMED CT ID
414380008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HPD TT8DSFC Limited Genetic Variation [1]
HPD TT8DSFC Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HPD OTDKD5EH Strong Autosomal dominant [2]
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References

1 Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.J Pediatr Endocrinol Metab. 2016 Jan;29(1):15-20. doi: 10.1515/jpem-2015-0132.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.