MCID: TYR004
MIFTS: 45

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 25 13
Hypertyrosinemia 25 26 67
Tyrosinemias 49 38 67
Hereditary Hypertyrosinemia 67
 
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology11 DOID:9275
ICD1029 E70.21
SNOMED-CT61 190694001
MeSH38 D020176
NCIt44 C98640

Summaries for Tyrosinemia

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Genetics Home Reference:25 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 ascorbic acid and hemin 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:11 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia:70 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
Nitisinoneapproved, investigationalPhase 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 UMLS67/NDF-RT45:


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

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Genetic tests related to Tyrosinemia:

id Genetic test Affiliating Genes
1 Hypertyrosinemia26

Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

35
Liver, Kidney, Testes, Brain, Neutrophil, Bone, Skin

Animal Models for Tyrosinemia or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2BTD, PAH, PTS
2MP:00053678.3BTD, FAH, GSTZ1, HPD, PAH
3MP:00053767.6AFP, BTD, FAH, GSTZ1, HPD, PAH

Publications for Tyrosinemia

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Articles related to Tyrosinemia:

(show top 50)    (show all 408)
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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Clinvar genetic disease variations for Tyrosinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FAHNM_000137.2(FAH): c.1062+5G> ASNVPathogenicrs80338901GRCh37Chr 15, 80472572: 80472572
2FAHNM_000137.2(FAH): c.554-1G> TSNVPathogenicrs80338895GRCh37Chr 15, 80460605: 80460605
3HPDNM_002150.2(HPD): c.1005C> G (p.Ile335Met)SNVPathogenicrs137852868GRCh37Chr 12, 122277904: 122277904

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:

idNameGO IDScoreTop Affiliating Genes
1response to mercury ionGO:004668910.1ALAD, TAT
2response to glucocorticoidGO:00513849.8ALAD, TAT
3tyrosine catabolic processGO:00065729.5FAH, GSTZ1, HPD, TAT
4response to organic substanceGO:00100339.5AFP, ALAD
5cellular amino acid metabolic processGO:00065209.3PTS, TAT
6L-phenylalanine catabolic processGO:00065598.9FAH, GSTZ1, HPD, PAH, TAT

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.5PAH, TAT

Sources for Tyrosinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet