Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Diminished tissue fumarylacetoacetate hydrolase activity
Always present (100%)HP:6000827
Hepatic failure
Always present (100%)HP:0001399
Generalised nonspecific aminoaciduria
Very frequent (80-99%)HP:0002909
Ascites
Frequent (30-79%)HP:0001541
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Enlarged kidney
Frequent (30-79%)HP:0000105
Frequent vomiting
Frequent (30-79%)HP:0002572
Growth failure
Frequent (30-79%)HP:0001510
Low blood sugar
Frequent (30-79%)HP:0001943
Metabolic acidosis
Frequent (30-79%)HP:0001942
Pyrexia
Frequent (30-79%)HP:0001945
Acute liver failure
Occasional (5-29%)HP:0006554
Enlarged liver
Occasional (5-29%)HP:0002240
Hepatocellular carcinoma
Occasional (5-29%)HP:0001402
Large spleen
Occasional (5-29%)HP:0001744
Melena
Occasional (5-29%)HP:0002249
Rickets of the lower limbs
Occasional (5-29%)HP:0006463
Alpha fetoprotein abnormal
HP:0006254
Cardiomyopathy, hypertrophic
HP:0001639
Cirrhosis
HP:0001394
De toni-fanconi-debre syndrome
HP:0001994
Elevated serum transaminases
HP:0002910
Elevated urinary 4-tyramine level
HP:6000775
Elevated urinary delta-aminolevulinic acid
HP:0003163
Elevated urinary succinylacetone level
HP:6000598
Episodic peripheral neuropathy
HP:0006949
Gastrointestinal haemorrhage
HP:0002239
Hypertyrosinemia
HP:0003231
Hypophosphatemic rickets
HP:0004912
Increased methionine in blood
HP:0003235
Quick Facts
- SNOMED CT
- 410056006
- UMLS CUI
- C0268490
- Fully Specified Name
- Tyrosinemia type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.