Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:tyrosinemia
go back to main search page
Accession:DOID:9275 term browser browse the term
Definition:A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
Synonyms:exact_synonym: FAH deficiency;   Hereditary Tyrosinemia;   Hypertyrosinemia;   Keratosis Palmoplantaris with Corneal Dystrophy;   Oculocutaneous Type Tyrosinoses;   Oculocutaneous Type Tyrosinosis;   Oregon type tyrosinemia;   Tat Deficiencies;   Tat Deficiency;   fumarylacetoacetase deficiencies;   fumarylacetoacetase deficiency;   fumarylacetoacetase deficiency disease;   fumarylacetoacetase deficiency diseases;   hereditary tyrosinemias;   tyrosine aminotransferase deficiency;   tyrosine transaminase deficiency;   tyrosine transaminase deficiency disease;   tyrosinemias
 primary_id: MESH:D020176
 alt_id: RDO:0001180
 xref: ICD10CM:E70.21;   NCI:C98640;   OMIM:PS276700
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
tyrosinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:737743
RGD:8554872
RGD:11554173
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:8554872
RGD:11554173
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:1600125
RGD:8554872
RGD:11554173
hawkinsinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872
tyrosinemia type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:8554872
RGD:14401588
RGD:14401587
RGD:14398827
RGD:14398823
RGD:7240710
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli RGD:14398827
tyrosinemia type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:7240710
RGD:8554872
tyrosinemia type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1884
          Metabolic Brain Diseases, Inborn 411
            tyrosinemia 6
              hawkinsinuria 1
              tyrosinemia type I 4
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                tyrosinemia 6
                  hawkinsinuria 1
                  tyrosinemia type I 4
                  tyrosinemia type II 1
                  tyrosinemia type III 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.