MCID: TYR004
MIFTS: 53

Tyrosinemia malady

Summaries for Tyrosinemia

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is caused by the shortage (deficiency) of one of the enzymes required for the multistep process that breaks down tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which leads to serious medical problems.

MalaCards: Tyrosinemia, also known as hypertyrosinemia, is related to tyrosinemia type i and tyrosinemia type ii. An important gene associated with Tyrosinemia is FAH (fumarylacetoacetate hydrolase (fumarylacetoacetase)), and among its related pathways are Ubiquinone and other terpenoid-quinone biosynthesis and phenylalanine utilization. The drugs sodium ascorbate and ascorbic acid and the compounds 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and homogentisate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related mouse phenotypes are pigmentation and renal/urinary system.

Disease Ontology:8 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia:63 Tyrosinemia (or \"Tyrosinaemia\") is an error of metabolism, usually inborn, in which the body cannot... more...

Aliases & Classifications for Tyrosinemia

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
See all sources

Aliases & Descriptions:

tyrosinemia 8 21 10
hypertyrosinemia 21 60
tyrosinemias 44 60
hereditary tyrosinemias 21


External Ids:

Disease Ontology8 DOID:9275
SNOMED-CT56 190694001
MeSH34 D020176

Related Diseases for Tyrosinemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Tyrosinemia Type I family:

Tyrosinemia Type Ii Tyrosinemia Type Iii
tyrosinemia Tyrosinemia, Type Ib

Diseases related to Tyrosinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia type i31.4AFP, GSTZ1, ALAD, HPD, FAH
2tyrosinemia type ii31.1FAH, TAT
3tyrosinemia type iii30.9EN1
4hepatitis30.5AFP, TAT
5hyperphenylalaninemia30.0PTS, QDPR, PAH
6metabolic acidosis29.8BTD, GLS2
7hepatocellular carcinoma10.3
8liver disease10.2
9hypermethioninemia10.1
10hepatitis a10.1
11keratitis10.1
12transient tyrosinemia of the newborn10.1
13goldenhar syndrome10.1
14keratosis10.1
15porphyria10.1
16hanhart syndrome10.1
17hawkinsinuria10.1
18tyrosinemia, type ib10.1
19alkaptonuria10.0FAH, GSTZ1
20homocystinuria10.0BTD, PTS
21pheochromocytoma10.0TAT
22gtp cyclohydrolase i deficiency10.0QDPR, PTS
23hypothyroidism10.0TYR, BTD
24diabetes mellitus10.0GLS2, PTS
25phenylketonuria10.0PTS, PAH, QDPR
26galactosemia10.0AFP, SLC25A13, TAT, FAH
27brain disease10.0SLC25A13, TAT, BTD
28liver cirrhosis10.0FAH, AFP, TAT, SLC25A13
29glioblastoma multiforme10.0TYR, CYCS
30vitiligo10.0QDPR, PAH, TYR
31hypoglycemia10.0BTD, SLC25A13, GLS2, CYCS
32embryonal cancer10.0NANOG, AFP, SOX2
33parkinson's disease10.0ADPRH, TYR, CYCS, PAH
34adenocarcinoma10.0TYR, AFP, TAT
35metabolic syndrome x10.0HPD, PTS, PAH, FAH, TAT, BTD
36mental retardation10.0QDPR, HPD, BTD, TAT, PAH, PTS
37teratoma10.0AFP, SOX2, NANOG
38acute liver failure9.9
39acute pancreatitis9.9
40angelman syndrome9.9
41fanconi syndrome9.9
42rickets9.9
43hypertrophic cardiomyopathy9.9
44acute intermittent porphyria9.9
45acute porphyria9.9
46cholestasis9.9
47collagen disease9.9
48hepatoblastoma9.9
49keratopathy9.9
50lactic acidosis9.9

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to tyrosinemia

Clinical Features for Tyrosinemia

About this section

Drugs & Therapeutics for Tyrosinemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Tyrosinemia

Drug clinical trials:

Search ClinicalTrials for Tyrosinemia

Search NIH Clinical Center for Tyrosinemia

Search CenterWatch for Tyrosinemia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Tyrosinemia

About this section

Anatomical Context for Tyrosinemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Tyrosinemia:

32
Liver, Kidney, Brain, Testes, Bone, Colon, Skin

Animal Models for Tyrosinemia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Tyrosinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7EN1, SOX2, TYR, BTD, PAH, PTS
2MP:00053678.7FAH, TYR, BTD, HPD, SLC25A13, PAH
3MP:00053767.6SOX2, FAH, AFP, TYR, BTD, HPD
4MP:00053787.4SOX2, FAH, TYR, BTD, CYCS, SLC25A13
5MP:00107687.4FAH, AFP, TYR, CYCS, NANOG, SLC25A13

Publications for Tyrosinemia

About this section
Sources:
50PubMed
See all sources

Articles related to Tyrosinemia:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. (22167277)
2012
2
Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1. (22209984)
2012
3
Maternal and fetal tyrosinemia type I. (23250512)
2010
4
Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome. (20547648)
2010
5
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. (20033293)
2009
6
Activation of nuclear factor E2-related factor 2 in hereditary tyrosinemia type 1 and its role in survival and tumor development. (18666252)
2008
7
The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia. (18227072)
2008
8
Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah-/- knockout mice model. (18093685)
2008
9
Gene therapy for liver enzyme deficiencies: what have we learned from models for Crigler-Najjar and tyrosinemia? (19072443)
2007
10
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
2006
11
The genetic tyrosinemias. (16602095)
2006
12
Tyrosinemia type I--diagnostic issues and prenatal diagnosis. (16514230)
2006
13
Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma. (16819381)
2006
14
A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I. (16414314)
2006
15
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. (15817712)
2005
16
Decreased mitochondrial oxidative capacity in hereditary tyrosinemia type 1. (16036518)
2005
17
Goldenhar syndrome and hereditary tyrosinemia type 1. (23648989)
2003
18
Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?]. (14613010)
2003
19
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
20
Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure. (10049978)
1999
21
Tyrosinemia type III: diagnosis and ten-year follow-up. (9343288)
1997
22
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. (8076937)
1994
23
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. (7913582)
1994
24
Chromosomal instability in hereditary tyrosinemia type I. (7855008)
1994
25
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
26
Tryptophanemia and tyrosinemia in adolescents with impulsive behavior. (8345161)
1993
27
Tyrosinemia Type 1 (20301688)
1993
28
Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. (8253377)
1993
29
Hematin therapy for the neurologic crisis of tyrosinemia. (1986081)
1991
30
Neurologic crises in hereditary tyrosinemia. (2153931)
1990
31
The effects of early treatment of hereditary tyrosinemia type I in infancy by orthotopic liver transplantation. (2336709)
1990
32
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I. (2378359)
1990
33
Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma. (2540570)
1989
34
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. (2964425)
1988
35
Outcome of therapy of hereditary tyrosinemia. (3150231)
1988
36
Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma. (3018074)
1986
37
Tyrosinemia II. (2862113)
1985
38
Persistent tyrosinemia associated with low activity of tyrosine aminotransferase. (6147810)
1984
39
Successful dietary control of tyrosinemia II. (6195199)
1983
40
Tyrosine aminotransferase deficiency in mink (Mustela vision): a model for human tyrosinemia II. (6117279)
1981
41
Richner-Hanhart syndrome and tyrosinemia type II. (6446465)
1980
42
CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia. (6155067)
1980
43
Tyrosinemia associated with perinatal infection with cytomegalovirus. (201739)
1978
44
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loads. (870870)
1977
45
Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels. (839332)
1977
46
Hereditary tyrosinemia with hyperplasia and hypertrophy of juxtaglomerular apparatus. (4814205)
1974
47
A modified automated fluorometric method for tyrosine determination in blood spotted on paper: a mass screening procedure for tyrosinemia. (4430143)
1974
48
Defect in synthesis of epinephrine in premature infants with tyrosinemia. (5546921)
1971
49
Dietary treatment of infantile tyrosinemia. (5755641)
1968
50
The enzymatic deficiency in tyrosinemia. (6050909)
1967

Genetic Variations for Tyrosinemia

About this section

Expression for genes affiliated with Tyrosinemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tyrosinemia

Search GEO for disease gene expression data for Tyrosinemia.

Pathways for genes affiliated with Tyrosinemia

About this section
Sources:
29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology, 53Reactome
See all sources

Compounds for genes affiliated with Tyrosinemia

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Tyrosinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
12-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione4410.5FAH, HPD
2homogentisate4410.5FAH, HPD
34-hydroxyphenylpyruvate4410.4FAH, HPD
4tetrahydrobiopterin44 11 2412.4QDPR, PAH
5valerate4410.4BTD, ALAD
6maleylacetoacetate4410.4FAH, HPD, GSTZ1
7ntbc4410.4FAH, AFP, HPD
87-biopterin4410.3QDPR, PAH
9dopaquinone44 2411.2PAH, TYR
10mspi4410.2PAH, ALAD, FAH
11dimercaprol4410.2ALAD, TYR
126-pyruvoyltetrahydropterin4410.2QDPR, PTS
13dihydropteridine44 2411.1PTS, QDPR, PAH
14sepiapterin44 2411.1PTS, QDPR, PAH
15L-Tyrosine11 2411.1TYR, PAH, TAT
16pterin44 2411.1PTS, PAH, QDPR
175-hydroxytryptophan4410.1TYR, PTS, QDPR
186-biopterin4410.1TYR, QDPR, PAH
19dihydrobiopterin44 2411.0TYR, QDPR, PAH
20butyrate4410.0ADPRH
21succinylacetone4410.0GSTZ1, HPD, FAH, ALAD, AFP
22copper44 2410.8ALAD, AFP, TYR, PAH
23neopterin449.8PAH, QDPR, PTS
24levodopa44 1110.8PTS, PAH, TYR, QDPR
25fumarylacetoacetate449.7GSTZ1, ADPRH, TAT, HPD, FAH
26asparagine449.7TAT, PAH, PTS, ADPRH
27iron44 2410.7AFP, ALAD, PAH, HPD, TAT
28carbon449.6ADPRH, AFP, TYR, GSTZ1
29guanidine hydrochloride449.6CYCS, TAT, ADPRH
30hydrogen44 2410.6PTS, PAH, AFP, QDPR, TAT
31phenylalanine449.5FAH, QDPR, BTD, PAH, PTS, GSTZ1
32urea44 11 2411.5PAH, SLC25A13, GLS2, AFP
33phenolphthalein44 1110.5ALAD, ADPRH
34lysine449.5PTS, ALAD, BTD, TAT, PAH, QDPR
35methotrexate44 49 1111.5AFP, ADPRH, TAT, QDPR
36ascorbic acid44 2410.4PTS, CYCS, TYR, ALAD
37dopamine44 28 11 2412.4PAH, TYR, PTS, QDPR, TAT
38zinc44 2410.3SOX2, BTD, TAT, PTS, ALAD, AFP
39nadh44 11 2411.2SLC25A13, QDPR, TYR, ADPRH, CYCS
40glutamine449.1AFP, GLS2, TAT, PAH, ADPRH
41h2o2448.9ADPRH, PTS, PAH, CYCS, QDPR, TYR
42cysteine448.9ADPRH, TYR, CYCS, TAT, PAH, PTS
43lactate448.8CYCS, TAT, AFP, GLS2, ALAD, BTD
44alanine448.8ADPRH, BTD, TAT, FAH, AFP, PAH
45oxygen44 249.7PAH, PTS, HPD, GLS2, CYCS, TYR
46arginine448.7ADPRH, GLS2, TYR, BTD, PTS, TAT
47glutamate448.6AFP, TYR, GLS2, SLC25A13, PTS, TAT
48serine448.5FAH, ADPRH, CYCS, AFP, TAT, PTS
49tyrosine448.4GSTZ1, AFP, ALAD, PTS, FAH, HPD
50aspartate448.3TAT, TYR, PAH, AFP, SLC25A13, PTS

GO Terms for genes affiliated with Tyrosinemia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Tyrosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.8GLS2, TAT, SLC25A13, PTS, GSTZ1, QDPR
2cytosolGO:0058297.8GSTZ1, SOX2, FAH, QDPR, CYCS, HPD

Biological processes related to Tyrosinemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1tyrosine catabolic processGO:0065729.9FAH, HPD, TAT, GSTZ1
2tetrahydrobiopterin biosynthetic processGO:0067299.9PTS, QDPR
3cellular amino acid biosynthetic processGO:0086529.7PAH, GLS2
4cellular respirationGO:0453339.6SLC25A13, CYCS
5cellular amino acid metabolic processGO:0065209.5QDPR, GLS2, PTS
6endodermal cell fate specificationGO:0017149.5NANOG, SOX2
7L-phenylalanine catabolic processGO:0065599.4GSTZ1, PAH, TAT, HPD, QDPR, FAH
8cellular nitrogen compound metabolic processGO:0346418.8FAH, QDPR, GLS2, HPD, TAT, PAH
9small molecule metabolic processGO:0442817.4CYCS, BTD, GLS2, QDPR, FAH, HPD

Molecular functions related to Tyrosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:01659710.0PAH, TAT

Products for genes affiliated with Tyrosinemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tyrosinemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet