MCID: TYR004
MIFTS: 53

Tyrosinemia malady

Summaries for Tyrosinemia

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
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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

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17GeneCards, 18GeneDecks
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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

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Drugs & Therapeutics for Tyrosinemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Tyrosinemia

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32MalaCards
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MalaCards organs/tissues related to Tyrosinemia:

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

Animal Models for Tyrosinemia or affiliated genes

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36MGI
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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

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50PubMed
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Articles related to Tyrosinemia:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Tyrosinemia: a report of three cases from India. (23408258)
2013
2
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. (23895425)
2013
3
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in QuAcbec. (22885033)
2012
4
Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process. (21216241)
2011
5
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. (23430822)
2011
6
Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. (19813022)
2010
7
Nitisinone: new drug. Type 1 tyrosinemia: an effective drug. (17458044)
2007
8
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. (16448836)
2006
9
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
10
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
11
Determination of urinary succinylacetone by capillary electrophoresis for the diagnosis of tyrosinemia type I. (15734174)
2005
12
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. (15465000)
2004
13
Tyrosinemia. (12004353)
2002
14
Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I. (11825062)
2002
15
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
16
Liver failure with coagulopathy in an infant with tyrosinemia]. (11481954)
2001
17
Neurological crisis mimicking acute pancreatitis in tyrosinemia type I. (10770119)
1999
18
Serum type III procollagen in children with type I hereditary tyrosinemia. (10400101)
1999
19
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
20
The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4-trifluoromethylbenzoyl) cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinemia, and the activity of enzymes involved in tyrosine catabolism in the rat. (9630461)
1998
21
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. (8929295)
1996
22
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case. (7618475)
1995
23
Two novel mutations involved in hereditary tyrosinemia type I. (7757089)
1995
24
Liver transplantation in type I tyrosinemia. (7652815)
1995
25
Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation. (7728147)
1995
26
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. (8005583)
1994
27
Painful plantar callouses and mental retardation. Tyrosinemia type II. (7909424)
1994
28
Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. (7927251)
1994
29
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. (7942842)
1994
30
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. (1520318)
1992
31
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. (1594329)
1992
32
Liver transplantation for hereditary tyrosinemia: the Quebec experience. (2378360)
1990
33
Visceral pathology of hereditary tyrosinemia type I. (2378357)
1990
34
Hepatic regenerating nodules in hereditary tyrosinemia. (3300223)
1987
35
Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma. (2984396)
1985
36
Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts. (3928801)
1985
37
Enzyme defect in a case of tyrosinemia type I, acute form. (6145143)
1984
38
Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. (6188953)
1983
39
Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. (6132360)
1983
40
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. (6225330)
1983
41
Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia. (7171740)
1982
42
Pseudodendritic keratitis and systemic tyrosinemia. (6454871)
1981
43
Letter to the editor: metabolic studies in tyrosinemia. (25406)
1978
44
Urinary p-tyramine in hereditary tyrosinemia: I. Levels as compared to normal individuals, effect of diet, and relationship to urinary tyrosine. (837522)
1977
45
Unusual pattern of metabolites in the urine of child with tyrosinemia: glyceraldehyde. (589791)
1977
46
Hereditary tyrosinemia in the province of Quebec: prevalence at birth and geographic distribution. (4829425)
1974
47
Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia. (4389443)
1969
48
Dietary treatment in tyrosinemia (tyrosinosis). With a note on the possible recognition of the carrier state. (6015903)
1967
49
Genetic aspects of tyrosinemia. (6050913)
1967
50
The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria: a hypothesis. (6050908)
1967

Genetic Variations for Tyrosinemia

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Expression for genes affiliated with Tyrosinemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology, 53Reactome
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Compounds for genes affiliated with Tyrosinemia

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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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

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tyrosinemia

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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