MCID: TYR004
MIFTS: 58

Tyrosinemia malady

Genetic 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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8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 33MalaCards
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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 Ubiquinol biosynthesis and FOXA2 and FOXA3 transcription factor networks. 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 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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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT
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Classifications:



Aliases & Descriptions:

tyrosinemia 8 21 10
hypertyrosinemia 21 62
tyrosinemias 45 62
hereditary tyrosinemias 21


External Ids:

Disease Ontology8 DOID:9275
SNOMED-CT58 190694001
MeSH35 D020176

Related Diseases for Tyrosinemia

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17GeneCards, 18GeneDecks
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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 52)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia type i31.5GSTZ1, ALAD, HPD, FAH, AFP
2tyrosinemia type ii31.3FAH, TAT
3tyrosinemia type iii31.1EN1
4hepatocellular carcinoma30.5CYCS, AFP, FAH, TAT
5hyperphenylalaninemia30.1PTS, PAH, QDPR
6lactic acidosis30.0GSTZ1, BTD
7rickets29.9FAH, PAH
8mental retardation29.7PTS, PAH, HPD, BTD, TAT, QDPR
9hanhart syndrome10.5
10hepatitis10.4
11transient tyrosinemia of the newborn10.3
12liver disease10.3
13hawkinsinuria10.2
14hypermethioninemia10.2
15keratitis10.2
16goldenhar syndrome10.1
17keratosis10.1
18porphyria10.1
19keratoderma10.1
20tyrosinemia, type ib10.1
21alkaptonuria10.1GSTZ1, FAH
22galactosemia10.1FAH, F3
23gtp cyclohydrolase i deficiency10.1QDPR, PTS
24factor viii deficiency10.0F3, PTS
25thrombophilia10.0F3, TAT
26disseminated intravascular coagulation10.0TAT, F3
27homocystinuria10.0BTD, PTS
28deficiency anemia10.0F3, ALAD, TAT
29malaria10.0ADPRH, ALAD, TAT
30liver cirrhosis10.0AFP, BTD, TAT
31pre-eclampsia10.0AFP, ADPRH, F3
32myocardial infarction10.0CYCS, F3, TAT
33ipex syndrome10.0CYCS, PTS, ADPRH, TAT
34phenylketonuria10.0PTS, PAH, QDPR
35vitiligo9.9QDPR, PAH
36acute liver failure9.9
37angelman syndrome9.9
38acute pancreatitis9.9
39fanconi syndrome9.9
40hypertrophic cardiomyopathy9.9
41metabolic acidosis9.9
42acute intermittent porphyria9.9
43cholestasis9.9
44hepatoblastoma9.9
45keratopathy9.9
46myopathy9.9
47neuropathy9.9
48pancreatitis9.9
49toni-fanconi syndrome9.9
50ataxia9.9

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Tyrosinemia

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Tyrosinemia

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Anatomical Context for Tyrosinemia

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33MalaCards
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MalaCards organs/tissues related to Tyrosinemia:

33
Liver, Kidney, Brain, Testes, Bone, Colon, Skin

Animal Models for Tyrosinemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Tyrosinemia:

37
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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52PubMed
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Articles related to Tyrosinemia:

(show top 50)    (show all 356)
idTitleAuthorsYear
1
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
2
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. (22495034)
2013
3
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
4
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
5
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. (21504522)
2011
6
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
7
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. (19836366)
2010
8
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
9
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
10
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
11
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
2006
12
The genetic tyrosinemias. (16602095)
2006
13
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
14
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
15
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. (15817712)
2005
16
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
17
Tyrosinemia. (12004353)
2002
18
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
19
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
20
Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. (10370811)
1999
21
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
22
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (9770534)
1998
23
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
24
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. (8929295)
1996
25
The nephropathy of type I tyrosinemia after liver transplantation. (7603784)
1995
26
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case. (7618475)
1995
27
Two novel mutations involved in hereditary tyrosinemia type I. (7757089)
1995
28
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
29
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. (1350265)
1992
30
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. (1520318)
1992
31
Hematin therapy for the neurologic crisis of tyrosinemia. (1986081)
1991
32
Neurologic crises in hereditary tyrosinemia. (2153931)
1990
33
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. (2964425)
1988
34
Outcome of therapy of hereditary tyrosinemia. (3150231)
1988
35
The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II. (2456982)
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
Tyrosinemia and tyrosyluria in healthy prematures: time courses not vitamin C-dependent. (1173792)
1975
44
The development of children with transient neonatal tyrosinemia. (4810728)
1974
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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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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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)38
all-trans-decaprenyl diphosphate biosynthesis38
10.0TAT, HPD
29.9TAT, AFP
39.7QDPR, PTS
4
Show member pathways
tyrosine biosynthesis IV38
tetrahydrobiopterin salvage38
9.5PAH, QDPR
5
Show member pathways
phenylalanine utilization38
noradrenaline and adrenaline degradation38
phenylalanine degradation IV38
8.9TAT, GSTZ1, HPD, FAH, PAH
6
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.5PAH, FAH, HPD, GSTZ1, TAT, QDPR
7
Show member pathways
7.0CYCS, PTS, PAH, FAH, HPD, ALAD

Compounds for genes affiliated with Tyrosinemia

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Tyrosinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
12-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione4510.4HPD, FAH
2homogentisate4510.3FAH, HPD
34-Fumarylacetoacetic acid2410.3GSTZ1, FAH
44-hydroxyphenylpyruvate4510.3HPD, FAH
54-Hydroxyphenylpyruvic acid2410.3HPD, TAT
6Phenylpyruvic acid2410.2TAT, HPD
7maleylacetoacetate4510.1GSTZ1, HPD, FAH
8ntbc4510.1AFP, FAH, HPD
9valerate4510.1ALAD, BTD
106-pyruvoyltetrahydropterin4510.0QDPR, PTS
117-biopterin459.9PAH, QDPR
126-biopterin459.9PAH, QDPR
13Sapropterin249.8QDPR, PAH
14mspi459.8PAH, FAH, ALAD
15phenolphthalein45 1110.7ADPRH, ALAD
16deta nonoate459.6CYCS, F3
17dihydropteridine45 2410.6PTS, PAH, QDPR
18sepiapterin45 2410.6QDPR, PAH, PTS
19pterin45 2410.6PTS, PAH, QDPR
20dihydrobiopterin45 2410.5PAH, QDPR
21succinylacetone459.5AFP, FAH, HPD, ALAD, GSTZ1
22n-tosyl-l-phenylalanine chloromethyl ketone459.5F3, CYCS
23neopterin459.5PTS, PAH, QDPR
24lead459.4ALAD, TAT, QDPR
25levodopa45 1110.4PTS, PAH, QDPR
26pteridine459.4QDPR, PTS
27amine459.4QDPR, PAH, PTS
28fumarylacetoacetate459.4TAT, GSTZ1, HPD, FAH, ADPRH
29butyrate459.3TAT, ADPRH, AFP, CYCS
30catecholamine459.3QDPR, PAH, PTS
31methotrexate51 45 1111.3AFP, ADPRH, TAT, QDPR
32tetrahydrobiopterin45 24 1111.3CYCS, PTS, PAH, QDPR
33iron45 2410.2AFP, PAH, HPD, ALAD, TAT
34asparagine459.2TAT, ADPRH, PAH, PTS
35guanidine hydrochloride459.1TAT, F3, ADPRH, CYCS
36actinomycin d459.1CYCS, AFP, F3, TAT
37zinc45 2410.0TAT, BTD, ALAD, PTS, AFP
38hydrogen45 2410.0AFP, PTS, PAH, TAT, QDPR
39oxygen45 249.8CYCS, AFP, PTS, PAH, HPD, TAT
40Water248.7PAH, ADPRH, FAH, BTD, GSTZ1
41lactate458.7CYCS, AFP, ADPRH, ALAD, BTD, TAT
42phenylalanine458.6PTS, PAH, FAH, BTD, GSTZ1, QDPR
43arginine458.6PTS, PAH, ADPRH, BTD, TAT
44lysine458.6PTS, PAH, ALAD, BTD, TAT, QDPR
45h2o2458.4CYCS, AFP, PTS, PAH, ADPRH, QDPR
46aspartate458.0AFP, PTS, PAH, ADPRH, FAH, F3
47cysteine457.8CYCS, PTS, PAH, ADPRH, F3, BTD
48alanine457.6AFP, PAH, ADPRH, FAH, F3, BTD
49tyrosine457.5AFP, PTS, PAH, FAH, HPD, ALAD
50serine457.2CYCS, AFP, PTS, PAH, ADPRH, FAH

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:0057398.8QDPR, TAT, GSTZ1, PTS, CYCS
2cytosolGO:0058297.2QDPR, CYCS, PTS, PAH, FAH, HPD

Biological processes related to Tyrosinemia according to GeneCards/GeneDecks:

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

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet