MCID: TYR004
MIFTS: 47

Tyrosinemia malady

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

Aliases & Classifications for Tyrosinemia

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Aliases & Descriptions for Tyrosinemia:

Name: Tyrosinemia 10 23 12
Tyrosinemias 47 65 36
Hypertyrosinemia 23 65
 
Hereditary Tyrosinemia 23
Hypertyrosinaemia 23
Tyrosinaemia 23


Classifications:



External Ids:

Disease Ontology10 DOID:9275
SNOMED-CT59 190694001
MeSH36 D020176

Summaries for Tyrosinemia

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Genetics Home Reference:23 Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

MalaCards based summary: Tyrosinemia, also known as tyrosinemias, is related to tyrosinemia, type iii and alkaptonuria. 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 have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skin, and related mouse phenotypes are pigmentation and renal/urinary system.

Disease Ontology:10 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia:68 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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia, type iii31.1FAH, HPD, TAT
2alkaptonuria30.2FAH, GSTZ1, HPD
3galactosemia29.8AFP, BTD, FAH
4phenylketonuria29.6BTD, PAH, PTS
5tyrosinemia, type i11.1
6tyrosinemia, type ii10.9
7hanhart syndrome10.5
8hepatocellular carcinoma10.5
9hepatitis10.5
10transient tyrosinemia of the newborn10.4
11liver disease10.3
12keratitis10.3
13hawkinsinuria10.3
14hypermethioninemia10.2
15anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1
16amino acid metabolic disorder10.1
17keratosis10.1
18porphyria10.1
19prion disease10.1
20genetic brain disorders10.1
21hyperphenylalaninemia10.1
22inborn amino acid metabolism disorder10.1
23encephalopathy10.1
24otosclerosis 410.1FAH, TAT
25glutathione synthetase deficiency10.1
26hyperinsulinism10.1
27cutaneous porphyria10.1
28peripheral neuropathy10.1
29leiomyomatosis and renal cell cancer10.0
30angelman syndrome10.0
31acute liver failure10.0
32keratopathy10.0
33fanconi syndrome10.0
34acute pancreatitis10.0
35hypertrophic cardiomyopathy10.0
36rickets10.0
37metabolic acidosis10.0
38cholestasis10.0
39hepatoblastoma10.0
40lactic acidosis10.0
41leiomyomatosis10.0
42myopathy10.0
43neuropathy10.0
44pancreatitis10.0
45neurologic diseases10.0
46toni-fanconi syndrome10.0
47cardiomyopathy10.0
48ataxia10.0
49tracheal calcification10.0FAH, PAH
50funisitis9.9AFP, 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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Drugs for Tyrosinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitisinoneapproved, investigationalPhase 3, Phase 2, Phase 111104206-65-7115355
Synonyms:
104206-65-7
2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione
2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione
2-(alpha,alpha,alpha-Trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione
2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione
2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione
AC1L3GZK
BIDD:PXR0129
C14H10F3NO5
CHEBI:50378
CHEMBL1337
CID115355
D05177
DB00348
 
FE-0200
LS-56815
Nitisinona
Nitisinone
Nitisinone (JAN/USAN/INN)
Nitisinone (NTBC)
Nitisinone [INN]
Nitisinone [USAN:INN]
Nitisinonum
Nitisone
Orfadin
Orfadin (TN)
SC 0735
UNII-K5BN214699
nitisinona
nitisinonum

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1CompletedNCT02323529Phase 3
2Nitisinone (NTBC) In Different Age Groups Of Patients With AlkaptonuriaActive, not recruitingNCT01390077Phase 2, Phase 3
3Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type ICompletedNCT00004333Phase 2
4Taste and Palatability of Orfadin SuspensionCompletedNCT01734889Phase 1
5Study of NTBC for Tyrosinemia ICompletedNCT00004443
6Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical CareEnrolling by invitationNCT02320084

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Tyrosinemias

Genetic Tests for Tyrosinemia

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Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

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

Animal Models for Tyrosinemia or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8BTD, PAH, PTS
2MP:00053678.2BTD, FAH, GSTZ1, HPD, PAH
3MP:00053766.9AFP, BTD, FAH, GSTZ1, HPD, PAH

Publications for Tyrosinemia

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Articles related to Tyrosinemia:

(show top 50)    (show all 384)
idTitleAuthorsYear
1
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. (25784227)
2015
2
Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia. (26118180)
2015
3
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. (26360553)
2015
4
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. (24852359)
2014
5
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
6
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. (22495034)
2013
7
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
8
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
9
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. (21504522)
2011
10
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
11
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. (19836366)
2010
12
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
13
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
14
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. (16640556)
2006
15
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
16
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
2006
17
The genetic tyrosinemias. (16602095)
2006
18
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
19
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
20
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. (15817712)
2005
21
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
22
Tyrosinemia. (12004353)
2002
23
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
24
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
25
Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. (10370811)
1999
26
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
27
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (9770534)
1998
28
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
29
The nephropathy of type I tyrosinemia after liver transplantation. (7603784)
1995
30
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case. (7618475)
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
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine. (837523)
1977
45
Tyrosinemia and tyrosyluria in healthy prematures: time courses not vitamin C-dependent. (1173792)
1975
46
Tyrosinemia with plantar and palmar keratosis and keratitis. (4270265)
1973
47
Tyrosinemia induced by a pyridoxine antagonist, desoxypyridoxine. (5008524)
1972
48
Hereditary tyrosinemia and abnormal pyrrole metabolism. (5502089)
1970
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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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
1cytosolGO:00058297.1ALAD, FAH, GSTZ1, HPD, PAH, PTS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to mercury ionGO:004668910.2ALAD, TAT
2response to glucocorticoidGO:005138410.1ALAD, TAT
3tyrosine catabolic processGO:00065729.6FAH, GSTZ1, HPD, TAT
4cellular amino acid metabolic processGO:00065209.5PTS, TAT
5response to organic substanceGO:00100339.5AFP, ALAD
6L-phenylalanine catabolic processGO:00065599.0FAH, GSTZ1, HPD, PAH, TAT
7aromatic amino acid family metabolic processGO:00090729.0FAH, GSTZ1, HPD, PAH, TAT
8cellular nitrogen compound metabolic processGO:00346418.3FAH, GSTZ1, HPD, PAH, TAT
9small molecule metabolic processGO:00442816.3ALAD, BTD, FAH, GSTZ1, HPD, PAH

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.8PAH, TAT
2catalytic activityGO:00038249.3ALAD, FAH, GSTZ1, TAT
3metal ion bindingGO:00468728.0AFP, ALAD, FAH, HPD, PTS

Sources for Tyrosinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet