Tyrosinemia, type I

Preferred Label : Tyrosinemia, type I;

Symbol : TYRSN1;

CISMeF acronym : TYRSN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fumarylacetoacetase deficiency; Fah deficiency; Hepatorenal tyrosinemia;

Description : Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by Bliksrud et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fumarylacetoacetase gene (FAH, 613871.0001);

Neoplasia : Hepatocellular carcinoma;

Laboratory abnormalities : Fumarylacetoacetate hydrolase (FAH) deficiency; Deficient hepatic 4-hydroxyphenylpyruvate dioxygenase; Tyrosinemia; Methioninemia; Elevated plasma and urine succinylacetone; Elevated hepatic transaminases; Elevated alpha-fetoprotein; Hypophosphatemia; Hypoglycemia; Elevated urinary delta-aminolevulinic acid;

Prefixed ID : #276700;

Details

Origin ID

276700;

UMLS CUI

C0268490;

Automatic exact mappings (from CISMeF team)
- tyrosinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Fumarylacetoacetase deficiency, acute type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- Tyrosinemia Type I [NCIt concept]
- Tyrosinemia type 1 [ORDO Disease]
- Tyrosinemia type I [MedDRA LLT]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- tyrosinemia type I [DO Concept]
- tyrosinemia type I [Disease (Nov.)]
- tyrosinemia, type I [MeSH concept]
DO Cross reference
- tyrosinemia type I [DO Concept]
Genes related to phenotype
- Fumarylacetoacetate hydrolase [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of coagulation [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Acute hepatic failure [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Elevated alpha-fetoprotein [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated urinary delta-aminolevulinic acid [HPO term]
- Enlarged kidney [HPO term]
- Episodic peripheral neuropathy [HPO term]
- Failure to thrive [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Glomerular sclerosis [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hepatomegaly [HPO term]
- Hypermethioninemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypertyrosinemia [HPO term]
- Hypoglycemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Nephrocalcinosis [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Pancreatic islet-cell hypertrophy [HPO term]
- Paralytic ileus [HPO term]
- Periodic paralysis [HPO term]
- Renal Fanconi syndrome [HPO term]
- Renal insufficiency [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Tyrosinemia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of fumarylacetoacetase (disorder) [SNOMED CT concept]
- Tyrosinaemia type 1 [ICD-11 Sub-sub category]
- Tyrosinaemia type I [MedDRA LLT]
- Tyrosinemia Type I [NCIt concept]
- Tyrosinemia type 1 [ORDO Disease]
- Tyrosinemia type I [MedDRA LLT]
- Tyrosinemia type I (disorder) [SNOMED CT concept]
- tyrosinemia type I [DO Concept]
- tyrosinemia type I [Disease (Nov.)]
- tyrosinemia, type I [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients