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Tyrosinemia type 3
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Hawkinsinuria
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Multiple endocrine neoplasia type 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG 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 (ICD10):
- Endocrine, nutritional and metabolic diseases -

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 -
No MeSH references

Gene symbol UniProt reference OMIM reference
HPD P32754609695
No signs/symptoms info available.