MCID: TYR004
MIFTS: 44

Tyrosinemia malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Eye diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Tyrosinemia

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Aliases & Descriptions for Tyrosinemia:

Name: Tyrosinemia 11 24 13
Hypertyrosinemia 24 25 66
Tyrosinemias 48 37 66
Hereditary Hypertyrosinemia 66
 
Hereditary Tyrosinemia 24
Hypertyrosinaemia 24
Tyrosinaemia 24

Classifications:



External Ids:

Disease Ontology11 DOID:9275
ICD1028 E70.21
SNOMED-CT60 190694001
MeSH37 D020176
NCIt43 C98640

Summaries for Tyrosinemia

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Genetics Home Reference:24 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 hypertyrosinemia, is related to hawkinsinuria and alkaptonuria. An important gene associated with Tyrosinemia is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways are Ubiquinol biosynthesis and FOXA2 and FOXA3 transcription factor networks. The drugs sodium ascorbate and ascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes.

Disease Ontology:11 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia:69 Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot... more...

Related Diseases for Tyrosinemia

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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
NitisinonePhase 3, Phase 2, Phase 114104206-65-7115355
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
4Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)CompletedNCT02750345Phase 1
5Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)CompletedNCT02750332Phase 1
6Taste and Palatability of Orfadin SuspensionCompletedNCT01734889Phase 1
7Bioequivalence Study of Two Nitisinone Formulations Compared to OrfadinCompletedNCT02750709Phase 1
8Study of NTBC for Tyrosinemia ICompletedNCT00004443
9Long 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 UMLS66/NDF-RT44:


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

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Genetic tests related to Tyrosinemia:

id Genetic test Affiliating Genes
1 Hypertyrosinemia25

Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

34
Liver, Kidney, Testes, Brain, Neutrophil, Bone, Skin

Animal Models for Tyrosinemia or affiliated genes

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Publications for Tyrosinemia

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Articles related to Tyrosinemia:

(show top 50)    (show all 404)
idTitleAuthorsYear
1
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. (27487552)
2016
2
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. (27093575)
2016
3
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. (27271696)
2016
4
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. (25784227)
2015
5
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. (26360553)
2015
6
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. (26565546)
2015
7
Diagnosis and treatment of hereditary tyrosinemia in Japan. (25443793)
2015
8
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
9
Tyrosinemia: a report of three cases from India. (23408258)
2013
10
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. (24238861)
2013
11
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. (23138988)
2013
12
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
13
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. (22884142)
2012
14
Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients. (22511487)
2012
15
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. (22167277)
2012
16
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
17
Messenger RNA as a source of transposase for sleeping beauty transposon-mediated correction of hereditary tyrosinemia type I. (17440442)
2007
18
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
19
Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain. (15891499)
2005
20
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. (16055052)
2005
21
Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. (15625434)
2005
22
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. (14691918)
2003
23
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. (11754109)
2002
24
Favorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type I]. (10370811)
1999
25
Tyrosinemia type II: Report of the first four cases in Saudi Arabia. (17344737)
1998
26
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. (9544843)
1998
27
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. (9705236)
1998
28
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
29
Tyrosinemia type III: diagnosis and ten-year follow-up. (9343288)
1997
30
Special imaging casebook. Hereditary tyrosinemia, acute type I. (9069074)
1997
31
Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients. (8929295)
1996
32
Serum levels of oncofetal markers CA 125, CA 19-9, and alpha-fetoprotein in children with hereditary tyrosinemia type I. (7513078)
1994
33
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
34
Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities. (1520318)
1992
35
Neurologic crises in hereditary tyrosinemia. (2153931)
1990
36
The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II. (2456982)
1988
37
Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts. (3317254)
1987
38
Prenatal diagnosis of hereditary tyrosinemia. (6700679)
1984
39
Tyrosinemia and intractable seizures. (6611256)
1984
40
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (6872257)
1983
41
Liver disease in hereditary tyrosinemia. (6621647)
1983
42
Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. (212542)
1978
43
Tyrosinemia associated with perinatal infection with cytomegalovirus. (201739)
1978
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
Metabolic studies of transient tyrosinemia in premature infants. (1143952)
1975
47
Tyrosinemia with plantar and palmar keratosis and keratitis. (4270265)
1973
48
Tyrosinemia induced by a pyridoxine antagonist, desoxypyridoxine. (5008524)
1972
49
Pathological findings in patients with tyrosinemia. (6050905)
1967
50
Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. (6016174)
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
1mitochondrionGO:00057397.7CYCS, GSTZ1, PTS, QDPR, TAT
2cytosolGO:00058296.3ALAD, CYCS, FAH, GSTZ1, HPD, 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 aluminum ionGO:001004410.1ALAD, QDPR
3response to glucocorticoidGO:005138410.0ALAD, TAT
4response to lead ionGO:00102889.5ALAD, QDPR
5tyrosine catabolic processGO:00065729.5FAH, GSTZ1, HPD, TAT
6response to organic substanceGO:00100339.2AFP, ALAD
7tetrahydrobiopterin biosynthetic processGO:00067299.0PTS, QDPR
8L-phenylalanine catabolic processGO:00065598.9FAH, GSTZ1, HPD, QDPR, TAT
9cellular amino acid metabolic processGO:00065208.9PTS, QDPR, TAT

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:00468727.8AFP, CYCS, FAH, HPD, PTS

Sources for Tyrosinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet