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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: FAH 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:25741868 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:9536098 PMID:10942115 PMID:11073718 PMID:17560158 PMID:17576681 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:10073910 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:28755182 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 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 Fahem15Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli IMP by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water. RGD PMID:27510266 RGD:14398823
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 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          Metabolic Brain Diseases, Inborn 517
            tyrosinemia 12
              hawkinsinuria 1
              tyrosinemia type I 10
              tyrosinemia type II 1
              tyrosinemia type III 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                tyrosinemia 12
                  hawkinsinuria 1
                  tyrosinemia type I 10
                  tyrosinemia type II 1
                  tyrosinemia type III 1
paths to the root