MCID: TYR004
MIFTS: 53

Tyrosinemia malady

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

Aliases & Classifications for Tyrosinemia

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Tyrosinemia, Aliases & Descriptions:

Name: Tyrosinemia 9 21 11
Hypertyrosinemia 21 60
 
Tyrosinemias 43 60
Hereditary Tyrosinemias 21


Classifications:



External Ids:

Disease Ontology9 DOID:9275
SNOMED-CT55 190694001
MeSH33 D020176

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:9 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...

Related Diseases for Tyrosinemia

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Diseases in the Tyrosinemia family:

Tyrosinemia, Type Iii Tyrosinemia, Type I
Tyrosinemia, Type Ii

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia, type ii31.8FAH, TAT
2tyrosinemia, type iii31.7EN1
3tyrosinemia, type i31.6GSTZ1, ALAD, HPD, FAH, AFP
4liver disease30.9FAH, F3
5hepatocellular carcinoma30.6CYCS, AFP, FAH, TAT
6lactic acidosis30.2GSTZ1, BTD
7rickets30.0FAH, PAH
8hyperphenylalaninemia30.0PTS, PAH, QDPR
9mental retardation29.0PTS, PAH, HPD, BTD, TAT, QDPR
10hanhart syndrome10.5
11hepatitis10.4
12alkaptonuria10.4GSTZ1, FAH
13hawkinsinuria10.3
14tyrosine-oxidase temporary deficiency10.3
15gtp cyclohydrolase i deficiency10.2QDPR, PTS
16keratitis10.2
17hypermethioninemia10.2
18hemophilia a10.2F3, PTS
19galactosemia10.1F3, FAH, AFP
20keratosis10.1
21porphyria10.1
22keratoderma10.1
23thrombophilia10.1F3, TAT
24disseminated intravascular coagulation10.1TAT, F3
25homocystinuria10.1BTD, PTS
26deficiency anemia10.1F3, ALAD, TAT
27malaria10.1ADPRH, ALAD, TAT
28liver cirrhosis10.1AFP, BTD, TAT
29preeclampsia/eclampsia 110.0AFP, ADPRH, F3
30angelman syndrome10.0
31acute liver failure10.0
32keratopathy10.0
33acute pancreatitis10.0
34fanconi syndrome10.0
35hypertrophic cardiomyopathy10.0
36metabolic acidosis10.0
37cholestasis10.0
38hepatoblastoma10.0
39myopathy10.0
40neuropathy10.0
41pancreatitis10.0
42toni-fanconi syndrome10.0
43ataxia10.0
44myocardial infarction9.9CYCS, F3, TAT
45ipex syndrome9.9CYCS, PTS, ADPRH, TAT
46phenylketonuria9.9PTS, PAH, QDPR
47vitiligo-associated multiple autoimmune disease susceptibility 19.8QDPR, PAH
48parkinson disease, late-onset9.7ADPRH, PAH, CYCS
49metabolic syndrome x9.5TAT, BTD, HPD, FAH, PAH, PTS

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 UMLS60/NDF-RT39:

Genetic Tests for Tyrosinemia

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Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

31
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:

35
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 378)
idTitleAuthorsYear
1
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. (25784227)
2015
2
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. (24852359)
2014
3
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
4
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. (22495034)
2013
5
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
6
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
7
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. (21504522)
2011
8
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
9
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. (19836366)
2010
10
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
11
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
12
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. (16640556)
2006
13
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
14
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
2006
15
The genetic tyrosinemias. (16602095)
2006
16
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
17
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
18
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. (15817712)
2005
19
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
20
Tyrosinemia. (12004353)
2002
21
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
22
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
23
Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. (10370811)
1999
24
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
25
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (9770534)
1998
26
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
27
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. (8929295)
1996
28
The nephropathy of type I tyrosinemia after liver transplantation. (7603784)
1995
29
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case. (7618475)
1995
30
Two novel mutations involved in hereditary tyrosinemia type I. (7757089)
1995
31
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
32
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. (1350265)
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
Outcome of therapy of hereditary tyrosinemia. (3150231)
1988
37
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. (2947825)
1986
38
Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma. (2984396)
1985
39
Prenatal diagnosis of hereditary tyrosinemia. (6700679)
1984
40
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (6872257)
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
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. (7249373)
1981
43
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. (7296877)
1981
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ubiquinol-10 biosynthesis (eukaryotic)36
all-trans-decaprenyl diphosphate biosynthesis36
10.0TAT, HPD
29.9TAT, AFP
39.7QDPR, PTS
4
Show member pathways
tyrosine biosynthesis IV36
tetrahydrobiopterin salvage36
9.5PAH, QDPR
5
Show member pathways
phenylalanine utilization36
noradrenaline and adrenaline degradation36
phenylalanine degradation IV36
8.9TAT, GSTZ1, HPD, FAH, PAH
6
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
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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Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Tyrosinemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
12-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione4310.4HPD, FAH
2homogentisate4310.3HPD, FAH
34-Fumarylacetoacetic acid2410.3FAH, GSTZ1
44-hydroxyphenylpyruvate4310.3FAH, HPD
54-Hydroxyphenylpyruvic acid2410.3TAT, HPD
6Phenylpyruvic acid2410.3HPD, TAT
7maleylacetoacetate4310.1GSTZ1, HPD, FAH
8ntbc4310.1HPD, FAH, AFP
9valerate4310.1BTD, ALAD
106-pyruvoyltetrahydropterin4310.0PTS, QDPR
117-biopterin439.9PAH, QDPR
126-biopterin439.9PAH, QDPR
13Sapropterin249.8QDPR, PAH
14mspi439.8ALAD, FAH, PAH
15phenolphthalein43 1210.8ALAD, ADPRH
16pteridine439.7PTS, QDPR
17dihydropteridine43 2410.6PTS, PAH, QDPR
18sepiapterin43 2410.6PTS, QDPR, PAH
19deta nonoate439.6CYCS, F3
20pterin43 2410.6QDPR, PTS, PAH
21dihydrobiopterin43 2410.5PAH, QDPR
22succinylacetone439.5FAH, GSTZ1, ALAD, HPD, AFP
23neopterin439.5QDPR, PAH, PTS
24lead439.4ALAD, TAT, QDPR
25levodopa43 1210.4QDPR, PAH, PTS
26amine439.4PAH, PTS, QDPR
27fumarylacetoacetate439.4ADPRH, TAT, GSTZ1, HPD, FAH
28butyrate439.3ADPRH, CYCS, AFP, TAT
29catecholamine439.3QDPR, PAH, PTS
30methotrexate49 43 1211.3TAT, ADPRH, AFP, QDPR
31tetrahydrobiopterin43 24 1211.3CYCS, PTS, PAH, QDPR
32n-tosyl-l-phenylalanine chloromethyl ketone439.2F3, CYCS
33iron43 2410.2AFP, TAT, ALAD, HPD, PAH
34asparagine439.2PTS, PAH, ADPRH, TAT
35guanidine hydrochloride439.1TAT, F3, ADPRH, CYCS
36actinomycin d439.1TAT, CYCS, F3, AFP
37zinc43 2410.0AFP, PTS, ALAD, BTD, TAT
38hydrogen43 2410.0PTS, PAH, AFP, TAT, QDPR
39oxygen43 249.8AFP, HPD, PAH, PTS, TAT, CYCS
40Water248.7FAH, BTD, ADPRH, PAH, GSTZ1
41lactate438.7AFP, CYCS, ALAD, BTD, TAT, ADPRH
42phenylalanine438.6PTS, PAH, FAH, BTD, GSTZ1, QDPR
43arginine438.6PAH, TAT, BTD, ADPRH, PTS
44lysine438.6QDPR, TAT, BTD, ALAD, PAH, PTS
45h2o2438.4QDPR, CYCS, AFP, PTS, PAH, ADPRH
46aspartate438.0PAH, ADPRH, AFP, F3, TAT, FAH
47cysteine437.8PAH, ADPRH, BTD, F3, TAT, PTS
48alanine437.6BTD, F3, TAT, FAH, PAH, AFP
49tyrosine437.5HPD, QDPR, PAH, FAH, PTS, AFP
50serine437.2FAH, CYCS, TAT, BTD, F3, ADPRH

GO Terms for genes affiliated with Tyrosinemia

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Cellular components related to Tyrosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.8QDPR, TAT, GSTZ1, PTS, CYCS
2cytosolGO:00058297.2QDPR, CYCS, PTS, PAH, FAH, HPD

Biological processes related to Tyrosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid metabolic processGO:00065209.7QDPR, PTS
2tyrosine catabolic processGO:00065729.5FAH, HPD, GSTZ1, TAT
3tetrahydrobiopterin biosynthetic processGO:00067299.4QDPR, PTS
4L-phenylalanine catabolic processGO:00065598.6QDPR, TAT, GSTZ1, HPD, FAH, PAH
5cellular nitrogen compound metabolic processGO:00346418.4PAH, FAH, HPD, GSTZ1, TAT, QDPR
6small molecule metabolic processGO:00442817.0CYCS, PTS, PAH, FAH, HPD, ALAD

Molecular functions related to Tyrosinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.7TAT, PAH

Products for genes affiliated with Tyrosinemia

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Sources for Tyrosinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet