loading...| Preferred Name |
Tyrosinemia Type I |
|
| Synonyms |
Tyrosinemia Type I Type I Tyrosinemia |
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| Definitions |
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98641 |
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| code |
C98641 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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| Contributing_Source |
Cellosaurus CCPS NICHD |
|
| DEFINITION |
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma. |
|
| FULL_SYN |
Tyrosinemia Type I Type I Tyrosinemia |
|
| label |
Tyrosinemia Type I |
|
| Preferred_Name |
Tyrosinemia Type I |
|
| prefixIRI |
Thesaurus:C98641 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C3844598 |
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| subClassOf |