Tyrosinemia type 1
A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
class Information
definition_citation
Orphanet
has_age_of_onset
All ages
has_dbxref
- ICD-10:E70.2
- ICD-11:5C50.11
- MedDRA:10069462
- OMIM:276700
- UMLS:C0268490
has_inheritance
Autosomal recessive
notation
present_in
- Europe AND has_point_prevalence_range : Unknown
- Finland AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000
- Norway AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
- Specific population AND has_birth_prevalence_average_value : 54.0 AND has_birth_prevalence_range : 1-5 / 10 000
- Specific population AND has_birth_prevalence_average_value : 6.25 AND has_birth_prevalence_range : 1-9 / 100 000
- Tunisia AND has_birth_prevalence_average_value : 6.7 AND has_birth_prevalence_range : 1-9 / 100 000
- Worldwide AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000
class Relations
Subclass of
- Disease
- disorder
- part ofrosomeRare metabolic liver disease
- part ofrosomePolymalformative genetic syndrome with increased risk of developing cancer
- part ofrosomeRare hereditary metabolic disease with peripheral neuropathy
- part ofrosomeDisorder of tyrosine metabolism
- part ofrosomeRare disorder potentially indicated for liver transplant
- part ofrosomeRare disorder potentially indicated for kidney transplant
- part ofrosomeNephropathy secondary to a storage or other metabolic disease
Related from
disease-causing germline mutation(s) in