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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 IAGP
ISO
ClinVar Annotator: match by term: Fumarylacetoacetase deficiency
ClinVar Annotator: match by term: Tyrosinemia type I
ClinVar Annotator: match by OMIM:276700
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7977370 PMID:12899938 PMID:23895425 PMID:28492532, PMID:11209059 RGD:737743 NCBI chr 7:84,585,159...84,605,942
Ensembl chr 7:84,585,159...84,606,722
JBrowse link
G Hpd 4-hydroxyphenylpyruvic acid dioxygenase ISO ClinVar Annotator: match by term: Hypertyrosinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 5:123,171,807...123,182,723
Ensembl chr 5:123,171,807...123,182,727
JBrowse link
G Tat tyrosine aminotransferase susceptibility ISO DNA:point mutations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertyrosinemia
CTD
ClinVar
PMID:1357662 RGD:1600125 NCBI chr 8:109,986,078...109,999,804
Ensembl chr 8:109,990,437...109,999,803
JBrowse link
hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvic acid dioxygenase ISO ClinVar Annotator: match by term: Hawkinsinuria
ClinVar Annotator: match by term: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
ClinVar Annotator: match by OMIM:140350
OMIM
ClinVar
PMID:858207 PMID:1130176 PMID:1519651 PMID:10942115 PMID:11073718 PMID:17560158 PMID:25741868 PMID:26226126 PMID:28492532 PMID:30984715 NCBI chr 5:123,171,807...123,182,723
Ensembl chr 5:123,171,807...123,182,727
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 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:84,109,356...84,151,893
Ensembl chr 7:84,109,356...84,151,893
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:84,246,274...84,411,741
Ensembl chr 7:84,246,278...84,410,176
JBrowse link
G Cemip cell migration inducing protein, hyaluronan binding ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:83,932,857...84,086,693
Ensembl chr 7:83,932,857...84,086,502
JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO
IMP
IEA
ClinVar Annotator: match by term: Tyrosinemia type I
associated with liver disease;DNA:missense mutation:cds:p.R142G (human)
OMIM:276700
ClinVar
MouseDO
OMIM
PMID:1401056 PMID:7550234 PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8005583 PMID:8028615 PMID:8076937 PMID:8162054 PMID:8318997 PMID:8364576 PMID:8557261 PMID:8723690 PMID:8723698 PMID:8821854 PMID:8829657 PMID:9101289 PMID:9633815 PMID:9705236 PMID:10508789 PMID:11196105 PMID:11278491 PMID:11476670 PMID:11754109 PMID:12203990 PMID:12555948 PMID:14691918 PMID:15187789 PMID:15465000 PMID:15638932 PMID:16521249 PMID:19569981 PMID:20301688 PMID:21117323 PMID:21752152 PMID:21764616 PMID:22145516 PMID:22554029 PMID:22802474 PMID:22975760 PMID:23000314 PMID:23193487 PMID:23225041 PMID:23348723 PMID:23430822 PMID:23430836 PMID:23895425 PMID:23927806 PMID:24016420 PMID:24033266 PMID:24516753 PMID:24555242 PMID:24756054 PMID:25081276 PMID:25087612 PMID:25256450 PMID:25525159 PMID:25564536 PMID:25681080 PMID:25741868 PMID:26565546 PMID:27093575 PMID:27397503 PMID:27814443 PMID:28492532 PMID:28755192 PMID:30414057 PMID:31300554 PMID:31568711, PMID:30368954, PMID:27397503, PMID:29507093, PMID:27510266 RGD:14401588, RGD:14401587, RGD:14398827, RGD:14398823 NCBI chr 7:84,585,159...84,605,942
Ensembl chr 7:84,585,159...84,606,722
JBrowse link
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:83,883,866...83,900,311
Ensembl chr 7:83,884,466...83,901,532
JBrowse link
G Zfand6 zinc finger, AN1-type domain 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 7:84,615,045...84,690,016
Ensembl chr 7:84,613,766...84,689,959
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 ClinVar Annotator: match by term: Tyrosinemia type II
ClinVar Annotator: match by term: Tyrosinemia type 2
OMIM
ClinVar
PMID:1357662 PMID:9544843 PMID:16917729 PMID:18577048 PMID:21145993 PMID:25741868 PMID:25784227 PMID:27285949 PMID:27832414 PMID:28255985 PMID:28492532 NCBI chr 8:109,986,078...109,999,804
Ensembl chr 8:109,990,437...109,999,803
JBrowse link
tyrosinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpd 4-hydroxyphenylpyruvic acid dioxygenase IEA
ISO
OMIM:276710
ClinVar Annotator: match by term: 4-Hydroxyphenylpyruvate dioxygenase deficiency
MouseDO
ClinVar
OMIM
PMID:9343288 PMID:10942115 PMID:17560158 PMID:25741868 PMID:28492532 NCBI chr 5:123,171,807...123,182,723
Ensembl chr 5:123,171,807...123,182,727
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13447
    Nutritional and Metabolic Diseases 3933
      disease of metabolism 3933
        inherited metabolic disorder 2141
          Metabolic Brain Diseases, Inborn 521
            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 13447
    disease of anatomical entity 12920
      nervous system disease 10471
        central nervous system disease 8843
          brain disease 8180
            Metabolic Brain Diseases 591
              Metabolic Brain Diseases, Inborn 521
                tyrosinemia 8
                  hawkinsinuria 1
                  tyrosinemia type I 6
                  tyrosinemia type II 1
                  tyrosinemia type III 1
paths to the root