MCID: TYR004
MIFTS: 62

Tyrosinemia malady

Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Cancer diseases, Eye diseases, Skin diseases, Gastrointestinal diseases categories
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Summaries for Tyrosinemia

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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 based summary: Tyrosinemia, also known as hypertyrosinemia, is related to tyrosinemia type ii and tyrosinemia type iii. An important gene associated with Tyrosinemia is FAH (fumarylacetoacetate hydrolase (fumarylacetoacetase)), and among its related pathways are Ubiquinol biosynthesis and FOXA2 and FOXA3 transcription factor networks. The drugs ascorbic acid and hemin 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 renal/urinary system and pigmentation.

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

Wikipedia:65 Tyrosinemia (or \"Tyrosinaemia\") is an error of metabolism, usually inborn, in which the body cannot... more...

Aliases & Classifications for Tyrosinemia

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Tyrosinemia, Aliases & Descriptions:

Name: Tyrosinemia 8 21 10
Hypertyrosinemia 21 62
Tyrosinemias 44 62
 
Tyrosinemias, Hereditary 62
Hereditary Tyrosinemias 21


Classifications:



External Ids:

Disease Ontology8 DOID:9275
SNOMED-CT57 190694001
MeSH34 D020176

Related Diseases for Tyrosinemia

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Diseases in the Tyrosinemia Type I family:

Tyrosinemia Type Iii Tyrosinemia Type Ii
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 ii31.8FAH, TAT
2tyrosinemia type iii31.7EN1
3tyrosinemia type i31.6GSTZ1, AFP, FAH, HPD, ALAD
4lactic acidosis30.2BTD, GSTZ1
5hyperphenylalaninemia30.0PTS, PAH, QDPR
6liver cancer29.9CYCS, AFP, TAT, FAH
7mental retardation29.0TAT, HPD, QDPR, BTD, PTS, PAH
8hanhart syndrome10.5
9hepatitis10.4
10hepatocellular carcinoma10.4
11alkaptonuria10.4GSTZ1, FAH
12transient tyrosinemia of the newborn10.3
13liver disease10.3
14galactosemia10.3F3, FAH
15hawkinsinuria10.3
16gtp cyclohydrolase i deficiency10.2PTS, QDPR
17hypermethioninemia10.2
18keratitis10.2
19factor viii deficiency10.2PTS, F3
20thrombophilia10.1TAT, F3
21homocystinuria10.1PTS, BTD
22goldenhar syndrome10.1
23keratosis10.1
24porphyria10.1
25keratoderma10.1
26tyrosinemia, type ib10.1
27deficiency anemia10.1F3, ALAD, TAT
28malaria10.1TAT, ALAD, ADPRH
29rickets10.1PAH, FAH
30liver cirrhosis10.1TAT, AFP, BTD
31disseminated intravascular coagulation10.0TAT, F3
32pre-eclampsia10.0F3, ADPRH, AFP
33acute liver failure10.0
34keratopathy10.0
35acute pancreatitis10.0
36angelman syndrome10.0
37fanconi syndrome10.0
38hypertrophic cardiomyopathy10.0
39metabolic acidosis10.0
40acute intermittent porphyria10.0
41cholestasis10.0
42hepatoblastoma10.0
43myopathy10.0
44neuropathy10.0
45pancreatitis10.0
46toni-fanconi syndrome10.0
47ataxia10.0
48myocardial infarction9.9CYCS, F3, TAT
49vitiligo9.9QDPR, PAH
50ipex syndrome9.9CYCS, PTS, ADPRH, TAT

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to tyrosinemia

Symptoms for Tyrosinemia

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Drugs & Therapeutics for Tyrosinemia

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Drug clinical trials:

Search ClinicalTrials for Tyrosinemia

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Tyrosinemia

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Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

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

Animal Models for Tyrosinemia or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6PAH, FAH, HPD, BTD, GSTZ1
2MP:00011868.4PTS, PAH, BTD, EN1
3MP:00053798.1CYCS, AFP, PTS, FAH, EN1
4MP:00107717.7EN1, BTD, F3, PAH, PTS
5MP:00053867.0CYCS, AFP, PTS, PAH, F3, BTD
6MP:00053786.9CYCS, PTS, PAH, FAH, F3, BTD
7MP:00053766.7EN1, AFP, PTS, PAH, FAH, F3

Publications for Tyrosinemia

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Articles related to Tyrosinemia:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. (24852359)
2014
2
Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program. (23462696)
2013
3
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. (22495034)
2013
4
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
5
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
6
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. (21504522)
2011
7
Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-Orbitrap. (20187082)
2010
8
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. (19836366)
2010
9
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
10
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
11
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. (16640556)
2006
12
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
13
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
2006
14
The genetic tyrosinemias. (16602095)
2006
15
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
16
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
17
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. (15817712)
2005
18
Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC). (14642604)
2003
19
Tyrosinemia. (12004353)
2002
20
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
21
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
22
Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. (10370811)
1999
23
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
24
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (9770534)
1998
25
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
26
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. (8929295)
1996
27
The nephropathy of type I tyrosinemia after liver transplantation. (7603784)
1995
28
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case. (7618475)
1995
29
Two novel mutations involved in hereditary tyrosinemia type I. (7757089)
1995
30
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
31
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. (1350265)
1992
32
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. (1520318)
1992
33
Hematin therapy for the neurologic crisis of tyrosinemia. (1986081)
1991
34
Neurologic crises in hereditary tyrosinemia. (2153931)
1990
35
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. (2964425)
1988
36
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. (2947825)
1986
37
Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma. (2984396)
1985
38
Prenatal diagnosis of hereditary tyrosinemia. (6700679)
1984
39
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (6872257)
1983
40
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
41
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. (7249373)
1981
42
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. (7296877)
1981
43
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine. (837523)
1977
44
Tyrosinemia and tyrosyluria in healthy prematures: time courses not vitamin C-dependent. (1173792)
1975
45
Tyrosinemia with plantar and palmar keratosis and keratitis. (4270265)
1973
46
Tyrosinemia induced by a pyridoxine antagonist, desoxypyridoxine. (5008524)
1972
47
Hereditary tyrosinemia and abnormal pyrrole metabolism. (5502089)
1970
48
Transient tyrosinemia. (5645114)
1968
49
Pathological findings in patients with tyrosinemia. (6050905)
1967
50
Hereditary tyrosinemia. General discussion: screening aspects. (6050912)
1967

Variations for Tyrosinemia

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Expression for genes affiliated with Tyrosinemia

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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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Pathways related to Tyrosinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ubiquinol-10 biosynthesis (eukaryotic)37
all-trans-decaprenyl diphosphate biosynthesis37
10.0TAT, HPD
29.9AFP, TAT
39.7PTS, QDPR
4
Show member pathways
tyrosine biosynthesis IV37
tetrahydrobiopterin salvage37
9.5QDPR, PAH
5
Show member pathways
phenylalanine utilization37
noradrenaline and adrenaline degradation37
phenylalanine degradation IV37
8.9FAH, PAH, TAT, GSTZ1, HPD
6
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.5QDPR, TAT, PAH, GSTZ1, HPD, FAH
7
Show member pathways
7.0CYCS, PTS, PAH, FAH, HPD, TAT

Compounds for genes affiliated with Tyrosinemia

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Tyrosinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
12-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione4410.4HPD, FAH
2homogentisate4410.3FAH, HPD
34-Fumarylacetoacetic acid2410.3GSTZ1, FAH
44-hydroxyphenylpyruvate4410.3HPD, FAH
54-Hydroxyphenylpyruvic acid2410.3HPD, TAT
6Phenylpyruvic acid2410.2TAT, HPD
7maleylacetoacetate4410.1GSTZ1, HPD, FAH
8ntbc4410.1AFP, FAH, HPD
9valerate4410.1ALAD, BTD
106-pyruvoyltetrahydropterin4410.0QDPR, PTS
117-biopterin449.9PAH, QDPR
126-biopterin449.9PAH, QDPR
13Sapropterin249.8QDPR, PAH
14mspi449.8PAH, FAH, ALAD
15phenolphthalein44 1110.7ADPRH, ALAD
16deta nonoate449.6CYCS, F3
17dihydropteridine44 2410.6PTS, PAH, QDPR
18sepiapterin44 2410.6QDPR, PAH, PTS
19pterin44 2410.6PTS, PAH, QDPR
20dihydrobiopterin44 2410.5PAH, QDPR
21succinylacetone449.5AFP, FAH, HPD, ALAD, GSTZ1
22n-tosyl-l-phenylalanine chloromethyl ketone449.5F3, CYCS
23neopterin449.5PTS, PAH, QDPR
24lead449.4ALAD, TAT, QDPR
25levodopa44 1110.4PTS, PAH, QDPR
26pteridine449.4QDPR, PTS
27amine449.4QDPR, PAH, PTS
28fumarylacetoacetate449.4TAT, GSTZ1, HPD, FAH, ADPRH
29butyrate449.3TAT, ADPRH, AFP, CYCS
30catecholamine449.3QDPR, PAH, PTS
31methotrexate50 44 1111.3AFP, ADPRH, TAT, QDPR
32tetrahydrobiopterin44 24 1111.3CYCS, PTS, PAH, QDPR
33iron44 2410.2AFP, PAH, HPD, ALAD, TAT
34asparagine449.2TAT, ADPRH, PAH, PTS
35guanidine hydrochloride449.1TAT, F3, ADPRH, CYCS
36actinomycin d449.1CYCS, AFP, F3, TAT
37zinc44 2410.0TAT, BTD, ALAD, PTS, AFP
38hydrogen44 2410.0AFP, PTS, PAH, TAT, QDPR
39oxygen44 249.8CYCS, AFP, PTS, PAH, HPD, TAT
40Water248.7PAH, ADPRH, FAH, BTD, GSTZ1
41lactate448.7CYCS, AFP, ADPRH, ALAD, BTD, TAT
42phenylalanine448.6PTS, PAH, FAH, BTD, GSTZ1, QDPR
43arginine448.6PTS, PAH, ADPRH, BTD, TAT
44lysine448.6PTS, PAH, ALAD, BTD, TAT, QDPR
45h2o2448.4CYCS, AFP, PTS, PAH, ADPRH, QDPR
46aspartate448.0AFP, PTS, PAH, ADPRH, FAH, F3
47cysteine447.8CYCS, PTS, PAH, ADPRH, F3, BTD
48alanine447.6AFP, PAH, ADPRH, FAH, F3, BTD
49tyrosine447.5AFP, PTS, PAH, FAH, HPD, ALAD
50serine447.2CYCS, AFP, PTS, PAH, ADPRH, FAH

GO Terms for genes affiliated with Tyrosinemia

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Cellular components related to Tyrosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.8CYCS, PTS, GSTZ1, TAT, QDPR
2cytosolGO:0058297.2CYCS, PTS, PAH, FAH, HPD, ALAD

Biological processes related to Tyrosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:0065209.7PTS, QDPR
2tyrosine catabolic processGO:0065729.5FAH, GSTZ1, TAT, HPD
3tetrahydrobiopterin biosynthetic processGO:0067299.4PTS, QDPR
4L-phenylalanine catabolic processGO:0065598.6PAH, QDPR, TAT, GSTZ1, HPD, FAH
5cellular nitrogen compound metabolic processGO:0346418.4PAH, QDPR, TAT, GSTZ1, HPD, FAH
6small molecule metabolic processGO:0442817.0GSTZ1, TAT, BTD, ALAD, HPD, FAH

Molecular functions related to Tyrosinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.7TAT, PAH

Products for genes affiliated with Tyrosinemia

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet