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HAWK
MCID: HWK001
MIFTS: 41
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Hawkinsinuria (HAWK)
Categories:
Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hawkinsinuria:
Characteristics:Orphanet epidemiological data:58
hawkinsinuria
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
allelic to tyrosinemia, type iii HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism External Ids:
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GARD :
20
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair. Hawkinsinuria is caused by mutations in the HPD gene and is inherited in an autosomal dominant manner. Treatment may include dietary supplements or restrictions.
MalaCards based summary : Hawkinsinuria, also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, is related to tyrosinemia and tyrosinemia, type iii. An important gene associated with Hawkinsinuria is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Amino Acid metabolism. Related phenotypes are failure to thrive and fine hair Disease Ontology : 12 An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has material basis in heterozygous mutation in HPD on chromosome 12q24.31. OMIM® : 57 Hawkinsinuria is an autosomal dominant inborn error of metabolism (Danks et al., 1975; Tomoeda et al., 2000). Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life. (140350) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Hawkinsinuria: 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, in the urine. Wikipedia : 74 Hawkinsinuria, is an autosomal dominant metabolic disorder affecting the metabolism of... more... |
Human phenotypes related to Hawkinsinuria:58 31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:140350 (Updated 05-Mar-2021) |
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Cochrane evidence based reviews: hawkinsinuria |
Articles related to Hawkinsinuria:(show all 20)
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Genes related to Hawkinsinuria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hawkinsinuria:6 (show top 50) (show all 74)
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Biological processes related to Hawkinsinuria according to GeneCards Suite gene sharing:
Molecular functions related to Hawkinsinuria according to GeneCards Suite gene sharing:
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