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 testes, 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, Testes, Brain, Skin, Bone, Colon

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:00011868.7PTS, EN1, PAH, BTD, TYR, SOX2
2MP:00053678.7GSTZ1, SLC25A13, HPD, BTD, TYR, FAH
3MP:00053767.6BTD, TYR, HPD, SLC25A13, GSTZ1, AFP
4MP:00053787.4FAH, TYR, BTD, CYCS, SLC25A13, PAH
5MP:00107687.4EN1, SOX2, FAH, TYR, AFP, CYCS

Publications for Tyrosinemia

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50PubMed
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Articles related to Tyrosinemia:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. (24238861)
2013
2
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients. (23649765)
2013
3
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong. (23000314)
2013
4
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
5
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. (22884142)
2012
6
Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins. (22588828)
2012
7
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. (21752152)
2011
8
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. (21112803)
2011
9
Adeno-associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo. (20162619)
2010
10
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program. (19902423)
2009
11
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
12
Animal models of tyrosinemia. (17513424)
2007
13
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. (16640556)
2006
14
Corneal lesion as the initial manifestation of tyrosinemia type II. (16863017)
2006
15
Current strategies for the treatment of hereditary tyrosinemia type I. (16494511)
2006
16
Tyrosinemia type I: a clinico-laboratory case report. (15531838)
2004
17
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
18
Evolution of a case of tyrosinemia type I treated with NTBC]. (11262262)
2001
19
Pathology teach and tell: chronic-onset hereditary tyrosinemia type I. (11486355)
2001
20
A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. (10665936)
2000
21
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (11073718)
2000
22
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. (8723698)
1996
23
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. (8162054)
1994
24
Surgical and metabolic aspects of liver transplantation for tyrosinemia. (8279006)
1993
25
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. (1350265)
1992
26
DNA ploidy abnormalities in the liver of children with hereditary tyrosinemia type I. Correlation with histopathologic features. (1374592)
1992
27
A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. (2014797)
1991
28
A new hepato-pancreato-renal disorder resembling tyrosinemia involving neuropathy and abnormal metabolism of polyunsaturated acids. (2832582)
1988
29
Ontario. Tyrosinemia II (Pseudodistemper) in Mink. (17423010)
1988
30
Corneal tyrosine crystals in transient neonatal tyrosinemia. (3385538)
1988
31
Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. (3317254)
1987
32
Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature. (3308177)
1987
33
Purification of mRNA coding for the enzyme deficient in hereditary tyrosinemia, fumarylacetoacetate hydrolase. (3718716)
1986
34
Tyrosinemia II. A large North Carolina kindred. (4026499)
1985
35
Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency. (6522148)
1984
36
Tyrosinemia II: lessons in molecular pathophysiology. (6149527)
1983
37
Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. (6622096)
1983
38
Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. (6652907)
1983
39
Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. (7116642)
1982
40
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. (7296877)
1981
41
On the renal tubular damage in hereditary tyrosinemia and on the formation of succinylacetoacetate and succinylacetone. (7246125)
1981
42
Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome). (23331)
1978
43
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine. (837523)
1977
44
Keratopathy in tyrosinemia. (8172)
1976
45
Vitamin C for prophylaxis of tyrosinemia in the newborn. Statement by the Nutrition Committee of the Canadian Paediatric Society. (1253089)
1976
46
Tyrosinemia with plantar and palmar keratosis and keratitis. (4270265)
1973
47
Hereditary tyrosinemia and abnormal pyrrole metabolism. (5502089)
1970
48
Exertion of delta-aminolevulinic acid in hereditary tyrosinemia. (5764904)
1969
49
Enzymatic studies in a case of hereditary tyrosinemia with hepatoma. (4390478)
1969
50
Hereditary tyrosinemia and tyrosyluria: clinical report of four patients. (6050903)
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