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 27 68
Tyrosinemias 50 39 68
Hereditary Hypertyrosinemia 68
 
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology11 DOID:9275
ICD1030 E70.21
SNOMED-CT62 190694001
MeSH39 D020176
NCIt45 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:71 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 & Phenotypes for Tyrosinemia

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MGI Mouse Phenotypes related to Tyrosinemia according to GeneCards Suite gene sharing:

41
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

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 UMLS68/NDF-RT46:


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

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Genetic tests related to Tyrosinemia:

id Genetic test Affiliating Genes
1 Hypertyrosinemia27

Anatomical Context for Tyrosinemia

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MalaCards organs/tissues related to Tyrosinemia:

36
Liver, Kidney, Testes, Brain, Neutrophil, Bone, Skin

Publications for Tyrosinemia

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Articles related to Tyrosinemia:

(show top 50)    (show all 408)
idTitleAuthorsYear
1
Fumarylacetoacetate hydrolase knockout rabbit model for hereditary tyrosinemia type 1. (28053091)
2017
2
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. (27855279)
2017
3
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. (27487552)
2016
4
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. (27093575)
2016
5
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. (27271696)
2016
6
Tyrosinemia Presenting With Multiple Hepatic Lesions and Splenomegaly. (27898518)
2016
7
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone. (27188289)
2016
8
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. (27464750)
2016
9
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. (27510266)
2016
10
Tyrosinemia type I: Case series with response to treatment to NTBC. (27109516)
2016
11
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1. (27052529)
2016
12
The outcome of seven patients with hereditary tyrosinemia type 1. (27682708)
2016
13
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I. (27308087)
2016
14
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. (27397503)
2016
15
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. (27356512)
2016
16
Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. (27282650)
2016
17
In brief: Nitisinone (Orfadin) for hereditary tyrosinemia. (27701365)
2016
18
Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis. (27013087)
2016
19
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. (27285949)
2016
20
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. (25784227)
2015
21
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. (26360553)
2015
22
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. (26565546)
2015
23
Diagnosis and treatment of hereditary tyrosinemia in Japan. (25443793)
2015
24
Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP. (25667247)
2015
25
Target-induced reconfiguration of DNA probes for recycling amplification and signal-on electrochemical detection of hereditary tyrosinemia type I gene. (26181647)
2015
26
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya. (26495099)
2015
27
Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia. (26118180)
2015
28
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). (26551707)
2015
29
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. (25681080)
2015
30
50 Years Ago in TheJournal ofPediatrics: Tyrosinemia - An Inborn Error of Tyrosine Metabolism with Cirrhosis of the Liver and Multiple Renal Defects. (25819913)
2015
31
Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I. (26322918)
2015
32
Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. (26157182)
2015
33
Noninvasive 3-dimensional imaging of liver regeneration in a mouse model of hereditary tyrosinemia type 1 using the sodium iodide symporter gene. (25482651)
2015
34
Tyrosinemia type 1: an overview of nursing care. (24941508)
2014
35
Liver Transplant for Children With Hepatocellular Carcinoma and Hereditary Tyrosinemia Type 1. (24679101)
2014
36
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. (24852359)
2014
37
Hereditary tyrosinemia type 1 in Turkey: A twenty-year single center experience. (25223216)
2014
38
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. (25066104)
2014
39
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. (24756054)
2014
40
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico. (24552869)
2014
41
Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I. (24762634)
2014
42
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? (25256450)
2014
43
In vivo confocal microscopic features of corneal pseudodendritic lesions in tyrosinemia type II. (25119963)
2014
44
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. (25117105)
2014
45
Correction to LC-MS/MS Method for Simultaneous Determination on a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients with Tyrosinemia Type I. (25269025)
2014
46
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
47
Tyrosinemia: a report of three cases from India. (23408258)
2013
48
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. (24238861)
2013
49
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. (23138988)
2013
50
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. (23895425)
2013

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 glucocorticoidGO:005138410.2ALAD, TAT
2response to mercury ionGO:004668910.2ALAD, TAT
3cellular amino acid metabolic processGO:00065209.9PTS, TAT
4response to organic substanceGO:00100339.6AFP, ALAD
5tyrosine catabolic processGO:00065729.0FAH, GSTZ1, HPD, TAT
6L-phenylalanine catabolic processGO:00065599.0FAH, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet