ONTOLOGY REPORT - ANNOTATIONS


Term:tyrosinemia
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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;   Hereditary Tyrosinemia, Type II;   Hereditary Tyrosinemias;   Hypertyrosinemia;   Keratosis Palmoplantaris with Corneal Dystrophy;   Oculocutaneous Type Tyrosinoses;   Oculocutaneous Type Tyrosinosis;   Oregon Type Tyrosinemia;   Richner Hanhart Syndrome;   Richner-Hanhart Syndromes;   Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type;   Tat Deficiencies;   Tat Deficiency;   fumarylacetoacetase deficiencies;   fumarylacetoacetase deficiency;   fumarylacetoacetase deficiency disease;   fumarylacetoacetase deficiency diseases;   tyrosine aminotransferase deficiency;   tyrosine transaminase deficiency;   tyrosine transaminase deficiency disease;   tyrosinemias
 primary_id: MESH:D020176
 alt_id: RDO:0001180
 xref: OMIM:PS276700
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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:11554173
RGD:8554872
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:7240710
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

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Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          Metabolic Brain Diseases, Inborn 385
            tyrosinemia 3
              Hawkinsinuria 1
              tyrosinemia type I 1
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                tyrosinemia 3
                  Hawkinsinuria 1
                  tyrosinemia type I 1
                  tyrosinemia type II 1
                  tyrosinemia type III 1
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