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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   Hypertyrosinemia;   Keratosis Palmoplantaris with Corneal Dystrophy;   Oculocutaneous Type Tyrosinosis;   Oregon type tyrosinemia;   TAT deficiency;   Tat Deficiencies;   fumarylacetoacetase deficiencies;   fumarylacetoacetase deficiency;   fumarylacetoacetase deficiency disease;   fumarylacetoacetase deficiency diseases;   hereditary tyrosinemias;   oculocutaneous type tyrosinoses;   tyrosine aminotransferase deficiency;   tyrosine transaminase deficiency;   tyrosine transaminase deficiency disease;   tyrosinemias
 primary_id: MESH:D020176
 xref: ICD10CM:E70.21;   NCI:C98640;   OMIM:PS276700
For additional species annotation, visit the Alliance of Genome Resources.


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tyrosinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tyrosinemia
ClinVar Annotator: match by term: Hypertyrosinemia
ClinVar Annotator: match by term: Fumarylacetoacetase deficiency
CTD
ClinVar
RGD
PMID:7977370, PMID:11209059, PMID:12899938, PMID:23895425, PMID:28492532 RGD:737743 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
CTD
ClinVar
NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link
G TAT tyrosine aminotransferase susceptibility ISO DNA:point mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
RGD
CTD
ClinVar
PMID:1357662 RGD:1600125 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,587...14,583,177
JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO OMIM NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link
tyrosinemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:49,540,698...49,599,323
Ensembl chr 7:49,540,602...49,599,321
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,258,910...49,450,463
JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:49,622,534...49,792,547
Ensembl chr 7:49,622,536...49,792,543
JBrowse link
G FAH fumarylacetoacetate hydrolase treatment ISO OMIM
RGD
PMID:30368954 RGD:14401588 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,983...49,105,598
JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,115...49,817,659
JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:48,967,402...49,034,711
Ensembl chr 7:48,967,566...49,034,703
JBrowse link
tyrosinemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAT tyrosine aminotransferase ISO OMIM NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,587...14,583,177
JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO OMIM NCBI chr14:30,845,608...30,857,658
Ensembl chr14:30,845,613...30,857,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Nutritional and Metabolic Diseases 3655
      disease of metabolism 3655
        inherited metabolic disorder 1997
          Metabolic Brain Diseases, Inborn 486
            tyrosinemia 8
              hawkinsinuria 1
              tyrosinemia type I 6
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        central nervous system disease 8423
          brain disease 7795
            Metabolic Brain Diseases 551
              Metabolic Brain Diseases, Inborn 486
                tyrosinemia 8
                  hawkinsinuria 1
                  tyrosinemia type I 6
                  tyrosinemia type II 1
                  tyrosinemia type III 1
paths to the root

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