WormBase Tree Display for Disease_model_annotation: WBDOannot00000323
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| WBDOannot00000323 | Disease_term | DOID:0050726 | |||
|---|---|---|---|---|---|
| Disease_of_species | Homo sapiens | ||||
| Modeled_by | Disease_relevant_gene | WBGene00019620 | |||
| Association_type | is_implicated_in | ||||
| Evidence_code | GO_code | IMP | |||
| ECO_term | ECO:0007013 | ||||
| Genetic_sex | hermaphrodite | ||||
| Paper_evidence | WBPaper00031468 | ||||
| Disease_model_description | Type 1 Tyrosinemia (HT1) is a rare genetic disorder stemming from mutations in the tyrosine catabolism enzyme fumarylacetoacetate hydrolase (FAH); pathophysiological manifestations of HT1 include failure to thrive, liver and renal failure and a predisposition for developing hepatocellular carcinoma. In C. elegans, animals mutant for fah-1, the nematode ortholog of FAH, show severe phenotypes of decreased body size, intestinal damage, reduced fertility, premature death, and activation of ER and oxidative stress pathways. | ||||
| DB_info | Database | OMIM | disease | 276700 | |
| Curator_confirmed | WBPerson324 | ||||
| Date_last_updated | 03 Oct 2018 00:00:00 |
