MCID: TYR004
MIFTS: 48

Tyrosinemia malady

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

Aliases & Classifications for Tyrosinemia

About this section

Aliases & Descriptions for Tyrosinemia:

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

Classifications:



External Ids:

Disease Ontology10 DOID:9275
ICD1027 E70.21
SNOMED-CT59 190694001
MeSH36 D020176
NCIt42 C98640
UMLS65 C0268483, C1879362, C0268486

Summaries for Tyrosinemia

About this section
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 hawkinsinuria 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 breast, 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

About this section

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
1hawkinsinuria32.4FAH, HPD, TAT
2alkaptonuria29.9FAH, GSTZ1, HPD
3tyrosinemia, type i12.5
4tyrosinemia, type ii12.5
5tyrosinemia, type iii12.4
6transient tyrosinemia of the newborn12.1
7hanhart syndrome10.2
8otosclerosis 410.2FAH, TAT
9hepatitis10.2
10hepatocellular carcinoma10.2
11liver disease10.1
12keratitis10.0
13mast-cell leukemia10.0FAH, PAH
14hypermethioninemia10.0
15ochronosis9.9FAH, PAH
16porphyria9.9
17keratosis9.9
18hyperphenylalaninemia9.9
19mixed cerebral palsy9.8AFP, PTS
20leiomyomatosis and renal cell cancer9.7
21angelman syndrome9.7
22acute liver failure9.7
23keratopathy9.7
24lennox-gastaut syndrome9.7
25metabolic acidosis9.7
26rickets9.7
27fanconi syndrome9.7
28hypertrophic cardiomyopathy9.7
29cholestasis9.7
30acute pancreatitis9.7
31lactic acidosis9.7
32myopathy9.7
33pancreatitis9.7
34leiomyomatosis9.7
35hepatoblastoma9.7
36neuropathy9.7
37toni-fanconi syndrome9.7
38cardiomyopathy9.7
39ataxia9.7
40craniosynostosis and dental anomalies9.7AFP, FAH
41maple syrup urine disease, type ii9.7BTD, PAH
42long qt syndrome 69.7BTD, PTS
43pseudotyphus of california9.7PAH, PTS
44bone diseases9.6PAH, PTS
45aceruloplasminemia9.6PAH, PTS
46immunodeficiency, centromere instability and facial anomalies syndrome9.3PAH, PTS
47noonan syndrome 19.2BTD, PAH, PTS
48glioma susceptibility 49.1AFP, ALAD, FAH, GSTZ1, HPD
49primary cerebellar degeneration6.9AFP, ALAD, BTD, FAH, GSTZ1, HPD

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to tyrosinemia

Symptoms for Tyrosinemia

About this section

Drugs & Therapeutics for Tyrosinemia

About this section

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
4Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)CompletedNCT02750332Phase 1
5Taste and Palatability of Orfadin SuspensionCompletedNCT01734889Phase 1
6Bioequivalence Study of Two Nitisinone Formulations Compared to OrfadinCompletedNCT02750709Phase 1
7Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)Active, not recruitingNCT02750345Phase 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 UMLS65/NDF-RT43:


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

About this section

Anatomical Context for Tyrosinemia

About this section

MalaCards organs/tissues related to Tyrosinemia:

33
Liver, Kidney, Breast, Prostate, Endothelial, Monocytes, B cells

Animal Models for Tyrosinemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Tyrosinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6BTD, PAH, PTS
2MP:00053677.7BTD, FAH, GSTZ1, HPD, PAH
3MP:00053766.9AFP, BTD, FAH, GSTZ1, HPD, PAH

Publications for Tyrosinemia

About this section

Articles related to Tyrosinemia:

(show top 50)    (show all 398)
idTitleAuthorsYear
1
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. (27093575)
2016
2
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. (25784227)
2015
3
Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia. (26118180)
2015
4
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. (26360553)
2015
5
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. (24852359)
2014
6
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
7
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC. (22495034)
2013
8
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (23193487)
2012
9
Single dose NTBC-treatment of hereditary tyrosinemia type I. (22307209)
2012
10
Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. (21504522)
2011
11
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
12
Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids. (19836366)
2010
13
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
14
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. (17560158)
2007
15
The narrow substrate specificity of human tyrosine aminotransferase -- the enzyme deficient in tyrosinemia type II. (16640556)
2006
16
Involvement of endoplasmic reticulum stress in hereditary tyrosinemia type I. (16317004)
2006
17
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. (16896227)
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
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
21
Tyrosinemia. (12004353)
2002
22
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (11476670)
2001
23
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. (11532983)
2001
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
Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. (9770534)
1998
27
Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. (9095403)
1997
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
Tissue distribution of succinylacetone in the rat in vivo: a possible basis for neurotoxicity in hereditary infantile tyrosinemia. (8399368)
1993
31
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. (1350265)
1992
32
Hematin therapy for the neurologic crisis of tyrosinemia. (1986081)
1991
33
Tyrosinemia type II with incomplete Richner-Hanhart's syndrome. (2964425)
1988
34
Outcome of therapy of hereditary tyrosinemia. (3150231)
1988
35
Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. (2947825)
1986
36
Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma. (2984396)
1985
37
Prenatal diagnosis of hereditary tyrosinemia. (6700679)
1984
38
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (6872257)
1983
39
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
40
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. (7249373)
1981
41
Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia. (7296877)
1981
42
Urinary p-tyramine in hereditary tyrosinemia: II. Origin of urinary p-tyramine. (837523)
1977
43
Tyrosinemia and tyrosyluria in healthy prematures: time courses not vitamin C-dependent. (1173792)
1975
44
Tyrosinemia with plantar and palmar keratosis and keratitis. (4270265)
1973
45
Tyrosinemia induced by a pyridoxine antagonist, desoxypyridoxine. (5008524)
1972
46
Hereditary tyrosinemia and abnormal pyrrole metabolism. (5502089)
1970
47
Pathological findings in patients with tyrosinemia. (6050905)
1967
48
Hereditary tyrosinemia. General discussion: screening aspects. (6050912)
1967
49
50

Variations for Tyrosinemia

About this section

Expression for genes affiliated with Tyrosinemia

About this section
Search GEO for disease gene expression data for Tyrosinemia.

Pathways for genes affiliated with Tyrosinemia

About this section

GO Terms for genes affiliated with Tyrosinemia

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1L-phenylalanine catabolic processGO:000655910.0GSTZ1, TAT
2response to oxidative stressGO:00069799.9ALAD, TAT
3cellular nitrogen compound metabolic processGO:00346419.6GSTZ1, PAH
4tyrosine catabolic processGO:00065729.6FAH, GSTZ1, HPD, TAT
5response to organic cyclic compoundGO:00140709.3ALAD, TAT
6aromatic amino acid family metabolic processGO:00090729.0FAH, GSTZ1, HPD, PAH, TAT
7metabolic processGO:00081528.7BTD, FAH, PAH

Sources for Tyrosinemia

About this section
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