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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1

Tyrosinemia type 3

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hawkinsinuria

Tyrosinemia type 3

HPD

(UniProt - OMIM)

HPD

(UniProt - OMIM)


COMMON GENES	HPD

Citations in the biomedical literature:

Hawkinsinuria		Tyrosinemia type 3
	Synonym(s): - 4-HPPD deficiency - 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency - 4-hydroxyphenylpyruvic acid dioxygenase deficiency		Synonym(s): - Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency - Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency - Tyrosinemia due to HPD deficiency - Tyrosinemia type III

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535845		External references: 1 OMIM reference - No MeSH references

Hawkinsinuria
	Very frequent - Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Organic acid metabolism anomalies Frequent - Hypotonia Occasional - Hypothyroidy
Tyrosinemia type 3
(no data available)