MCID: TYR004
MIFTS: 46

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

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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

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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 hawkinsinuria and tyrosinemia, type i. 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 brain, 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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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
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

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Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

33
Liver, Kidney, Brain, Breast, Prostate, Endothelial, Testes

Animal Models for Tyrosinemia or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.6BTD, PAH, PTS
2MP:00053677.7BTD, 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 390)
idTitleAuthorsYear
1
Symptoms, cytokines, and quality of life in patients diagnosed with chronic graft-versus-host disease following allogeneic hematopoietic stem cell transplantation. (25901378)
2015
2
Prognostic Significance of Ki-67 in Chemotherapy-naive Breast Cancer Patients with 10-year Follow-up. (24403472)
2014
3
Rare case of trilateral retinoblastoma with spinal canal drop metastasis detected with fluorine-18 fluorodeoxyglucose positronemission tomography/computed tomography imaging. (24761068)
2014
4
Human amnion mesenchymal cells negative co-stimulatory molecules PD-L1 expression and its capacity of modulating microglial activation of CNS. (24096708)
2014
5
Netrin-1 promotes adipose tissue macrophage retention and insulin resistance in obesity. (24584118)
2014
6
Effects of infertility and infertility duration on female sexual functions. (23179802)
2013
7
A case of neuroendocrine tumor G1 with unique histopathological growth progress. (24368937)
2013
8
Epilepsy in individuals with neurofibromatosis type 1. (24032542)
2013
9
Secretory phospholipase A2 activity in serum and cerebrospinal fluid of patients with relapsing-remitting multiple sclerosis. (23859159)
2013
10
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. (24008410)
2013
11
The diagnostic value of D-dimer, procalcitonin and CRP in acute appendicitis. (23236260)
2012
12
Herpes zoster ophthalmicus in an otherwise healthy 2-year-old child. (23112258)
2012
13
Catheter venography and endovascular treatment of chronic cerebrospinal venous insufficiency. (22640501)
2012
14
Seroprevalence and correlates of hepatitis a among HIV-negative American men who have sex with men. (21851774)
2011
15
Rare human IFNG variants. (20038203)
2010
16
Expression of matrix metalloproteinases 1, 3, and 9 in degenerated long head biceps tendon in the presence of rotator cuff tears: an immunohistological study. (21108787)
2010
17
The prosurvival activity of ascites against TRAIL is associated with a shorter disease-free interval in patients with ovarian cancer. (20157422)
2010
18
Primary gastric adenosquamous carcinoma in a Caucasian woman: a case report. (21034475)
2010
19
Retinal pathology of pediatric cerebral malaria in Malawi. (19177166)
2009
20
Hairy tongue. (19263713)
2008
21
Expression of stem cell markers in human astrocytomas of different WHO grades. (17611714)
2008
22
Human mismatch repair gene, MLH1, is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2. (18345027)
2008
23
A G protein/cAMP signal cascade is required for axonal convergence into olfactory glomeruli. (17215378)
2007
24
Oxidative stress in patients with chronic hepatitis B before and after interferon alpha-2b treatment]. (17429526)
2007
25
Bruton's tyrosine kinase is required for TLR2 and TLR4-induced TNF, but not IL-6, production. (16517732)
2006
26
Aripiprazole for schizophrenia. Systematic review. (16880478)
2006
27
Endothelin and oxidative stress in the vascular system. (16248780)
2005
28
Two sequential phosphates 3' adjacent to the 8-oxoguanosine are crucial for lesion excision by E. coli Fpg protein and human 8-oxoguanine-DNA glycosylase. (15979229)
2005
29
Difficulty in losing weight by behavioral intervention for women with Trp64Arg polymorphism of the beta3-adrenergic receptor gene. (12917707)
2003
30
Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells. (12522555)
2003
31
Characteristics and postoperative course of tinnitus in otosclerosis. (12544028)
2003
32
Update on imaging aortic atherosclerosis. (12760169)
2003
33
Dax1 is required for testis determination. (12679814)
2003
34
Episcleral osseous choristoma. (11767037)
2001
35
Acholeplasma laidlawii up-regulates granulysin gene expression via transcription factor activator protein-1 in a human monocytic cell line, THP-1. (11722647)
2001
36
Inhibitory effect of sulfated galactans from the marine alga Bostrychia montagnei on herpes simplex virus replication in vitro. (11292240)
2001
37
Cytoplasmic sequestration of an O6-methylguanine-DNA methyltransferase enhancer binding protein in DNA repair-deficient human cells. (9113992)
1997
38
Tryptophan luminescence as a probe of enzyme conformation along the O-acetylserine sulfhydrylase reaction pathway. (8679597)
1996
39
Thrombin-antithrombin III complexes as an additional diagnostic aid in pulmonary embolism. (8698274)
1996
40
Structural characterization of the beta-globin gene cluster in an individual expressing a very low level of G gamma globin chains. (8718695)
1995
41
Tumor necrosis factor alpha from peripheral blood mononuclear cells of IgA nephropathy and mesangial cell proliferation. (8038141)
1994
42
Influence of region-specific alterations of neuropeptidase content on the catabolic fates of neuropeptides in Alzheimer's disease. (7905027)
1994
43
Hepatocellular carcinoma treated by intraarterial injection of adriamycin/mitomycin C oil suspension alone or combined with cis-diaminodichloroplatinum]. (8390227)
1993
44
Fatal pyoderma gangrenosum in association with C7 deficiency. (1517503)
1992
45
Primary structure of a human arginine-rich nuclear protein that colocalizes with spliceosome components. (1896467)
1991
46
Computer simulation of zinc finger motifs from cellular nucleic acid binding protein and their interaction with consensus DNA sequences. (2253775)
1990
47
A residual mature teratoma with a more balanced karyotype than the primary testicular nonseminoma? (2833344)
1988
48
Neurological complications in Scheuermann's disease. A case report and review of the literature. (5781590)
1969
49
50

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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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

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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