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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 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 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Hpd 4-hydroxyphenylpyruvate dioxygenase ISO ClinVar Annotator: match by term: Hypertyrosinemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
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 chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
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 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 chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
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 1:146,248,505...146,289,465
Ensembl chr 1:146,248,503...146,289,465
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,399,217...146,556,437
Ensembl chr 1:146,399,217...146,556,171
JBrowse link
G Cemip cell migration inducing hyaluronidase ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,069,774...146,226,320
Ensembl chr 1:146,069,771...146,226,462
JBrowse link
G Fah fumarylacetoacetate hydrolase treatment ISO
IMP
ClinVar Annotator: match by term: Tyrosinemia type I
associated with liver disease;DNA:missense mutation:cds:p.R142G (human)
ClinVar
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:30368954, PMID:27397503, PMID:29507093, PMID:27510266 RGD:14401588, RGD:14401587, RGD:14398827, RGD:14398823 NCBI chr 1:146,713,663...146,736,339
Ensembl chr 1:146,713,676...146,736,261
JBrowse link
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli IMP by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water RGD PMID:29507093 RGD:14398827
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,030,211...146,043,097
Ensembl chr 1:146,037,426...146,043,097
JBrowse link
G Zfand6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Tyrosinemia type I ClinVar PMID:28492532 NCBI chr 1:146,745,850...146,823,762
Ensembl chr 1:146,745,859...146,823,762
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 chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
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 ClinVar Annotator: match by term: 4-Hydroxyphenylpyruvate dioxygenase deficiency OMIM
ClinVar
PMID:9343288, PMID:10942115, PMID:17560158, PMID:25741868, PMID:28492532 NCBI chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        inherited metabolic disorder 2222
          Metabolic Brain Diseases, Inborn 503
            tyrosinemia 11
              hawkinsinuria 1
              tyrosinemia type I 9
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                tyrosinemia 11
                  hawkinsinuria 1
                  tyrosinemia type I 9
                  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.