MCID: TYR004
MIFTS: 48

Tyrosinemia

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

Aliases & Classifications for Tyrosinemia

MalaCards integrated aliases for Tyrosinemia:

Name: Tyrosinemia 12 72 24 36 14
Hypertyrosinemia 24 28 69
Tyrosinemias 51 41 69
Hereditary Hypertyrosinemia 69
Hereditary Tyrosinemia 24
Hypertyrosinaemia 24
Tyrosinaemia 24

Classifications:



External Ids:

Disease Ontology 12 DOID:9275
ICD10 32 E70.21
MeSH 41 D020176
NCIt 46 C98640
SNOMED-CT 64 190694001
KEGG 36 H00165

Summaries for Tyrosinemia

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 tyrosinemia, type ii and tyrosinemia, type iii. An important gene associated with Tyrosinemia is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Tyrosine metabolism and Phenylalanine metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related phenotype is renal/urinary system.

Disease Ontology : 12 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

Wikipedia : 72 Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot... more...

Related Diseases for Tyrosinemia

Diseases in the Tyrosinemia family:

Tyrosinemia, Type Ii Tyrosinemia, Type I
Tyrosinemia, Type Iii

Diseases related to Tyrosinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 tyrosinemia, type ii 34.2 FAH TAT
2 tyrosinemia, type iii 33.8 FAH HPD TAT
3 tyrosinemia, type i 32.1 AFP ALAD CYCS FAH GSTZ1 HPD
4 alkaptonuria 30.5 FAH HPD
5 hyperphenylalaninemia 29.0 PAH PTS
6 transient tyrosinemia of the newborn 12.1
7 tyrosinosis 11.4
8 hawkinsinuria 11.3
9 tyrosine-oxidase temporary deficiency 11.0
10 folate malabsorption, hereditary 10.8
11 bile acid synthesis defect, congenital, 2 10.8
12 5-oxoprolinase deficiency 10.8
13 glycine n-methyltransferase deficiency 10.8
14 bile acid synthesis defect, congenital, 1 10.8
15 maleylacetoacetate isomerase deficiency 10.8
16 childhood hepatocellular carcinoma 10.8
17 blood group, i system 10.4
18 hanhart syndrome 10.2
19 hepatitis 10.2
20 hepatocellular carcinoma 10.2
21 liver disease 10.0
22 keratitis, hereditary 10.0
23 pancreatitis 10.0
24 infantile liver failure syndrome 1 9.9
25 hypermethioninemia 9.9
26 amino acid metabolic disorder 9.9 FAH PAH
27 classic phenylketonuria 9.9 PAH PTS
28 mild hyperphenylalaninemia 9.9 PAH PTS
29 dyskinetic cerebral palsy 9.9 AFP PTS
30 hemifacial microsomia with radial defects 9.8
31 hemifacial microsomia 9.8
32 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
33 episodic pain syndrome, familial, 1 9.8
34 alpha-fetoprotein deficiency 9.8
35 porphyria 9.8
36 keratosis 9.8
37 hyperphenylalaninemia due to dehydratase deficiency 9.8
38 streptococcal group a invasive disease 9.8
39 tetrahydrobiopterin deficiency 9.8 PAH PTS
40 holocarboxylase synthetase deficiency 9.7 BTD PTS
41 angelman syndrome 9.7
42 hereditary leiomyomatosis and renal cell cancer 9.7
43 porphyria, acute intermittent 9.7
44 ifap syndrome with or without bresheck syndrome 9.7
45 ataxia and polyneuropathy, adult-onset 9.7
46 acute liver failure 9.7
47 keratopathy 9.7
48 liver cirrhosis 9.7
49 lennox-gastaut syndrome 9.7
50 metabolic acidosis 9.7

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to Tyrosinemia

Symptoms & Phenotypes for Tyrosinemia

MGI Mouse Phenotypes related to Tyrosinemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 BTD FAH GSTZ1 HPD PAH

Drugs & Therapeutics for Tyrosinemia

Drugs for Tyrosinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 3,Phase 2,Phase 1 104206-65-7 115355

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
2 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, Phase 3 Nitisinone
3 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2 NTBC
4 Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750345 Phase 1 Nitisinone;Nitisinone Baked Tablet;Orfadin
5 Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750332 Phase 1 Nitisinone
6 Taste and Palatability of Orfadin Suspension Completed NCT01734889 Phase 1 Nitisinone
7 Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Completed NCT02750709 Phase 1 Nitisinone;Nitisinone 10 mg Tablet High Compritol;Orfadin
8 Study of NTBC for Tyrosinemia I Completed NCT00004443 NTBC
9 Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study) Recruiting NCT03446586
10 Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 Recruiting NCT03284658
11 Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care Enrolling by invitation NCT02320084 Nitisinone

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

Genetic tests related to Tyrosinemia:

# Genetic test Affiliating Genes
1 Hypertyrosinemia 28

Anatomical Context for Tyrosinemia

MalaCards organs/tissues related to Tyrosinemia:

38
Liver, Kidney, Brain, Testes, Neutrophil, Skin, Cortex

Publications for Tyrosinemia

Articles related to Tyrosinemia:

(show top 50) (show all 434)
# Title Authors Year
1
Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1. ( 29195145 )
2018
2
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day. ( 29170874 )
2017
3
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. ( 28712060 )
2017
4
Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean. ( 28755180 )
2017
5
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. ( 28771246 )
2017
6
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). ( 28769581 )
2017
7
Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint. ( 28755198 )
2017
8
Tyrosinemia Type I in Japan: A Report of Five Cases. ( 28755191 )
2017
9
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review. ( 28893311 )
2017
10
Comment on Pancreatitis in Type 1 Tyrosinemia. ( 28783026 )
2017
11
Hepatorenal Tyrosinemia in Mexico: A Call to Action. ( 28755193 )
2017
12
Richner-Hanhart syndrome (tyrosinemia type II). ( 29360903 )
2017
13
Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. ( 27855279 )
2017
14
Fumarylacetoacetate hydrolase knockout rabbit model for hereditary tyrosinemia type 1. ( 28053091 )
2017
15
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia. ( 29201126 )
2017
16
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. ( 28949985 )
2017
17
Dietary Considerations in Tyrosinemia Type I. ( 28755197 )
2017
18
Liver Cancer in Tyrosinemia Type 1. ( 28755188 )
2017
19
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1. ( 28755181 )
2017
20
Caregiver Quality of Life with Tyrosinemia Type 1. ( 29110168 )
2017
21
Gene Therapy in Tyrosinemia: Potential and Pitfalls. ( 28755200 )
2017
22
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. ( 28755189 )
2017
23
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. ( 28755185 )
2017
24
Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1. ( 28755183 )
2017
25
Hereditary Tyrosinemia Type 1 in Turkey. ( 28755194 )
2017
26
Newborn Screening for Hereditary Tyrosinemia Type I in QuAcbec: Update. ( 28755192 )
2017
27
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine. ( 28755184 )
2017
28
Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis. ( 27013087 )
2016
29
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. ( 27487552 )
2016
30
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. ( 27356512 )
2016
31
Tyrosinemia type I: Case series with response to treatment to NTBC. ( 27109516 )
2016
32
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. ( 27397503 )
2016
33
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. ( 27510266 )
2016
34
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. ( 27271696 )
2016
35
Tyrosinemia Presenting With Multiple Hepatic Lesions and Splenomegaly. ( 27898518 )
2016
36
Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. ( 27282650 )
2016
37
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. ( 27285949 )
2016
38
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. ( 27464750 )
2016
39
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. ( 27093575 )
2016
40
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone. ( 27188289 )
2016
41
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1. ( 27052529 )
2016
42
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I. ( 27308087 )
2016
43
The outcome of seven patients with hereditary tyrosinemia type 1. ( 27682708 )
2016
44
In brief: Nitisinone (Orfadin) for hereditary tyrosinemia. ( 27701365 )
2016
45
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. ( 26565546 )
2015
46
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. ( 25681080 )
2015
47
Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. ( 26157182 )
2015
48
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. ( 26360553 )
2015
49
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. ( 25784227 )
2015
50
Target-induced reconfiguration of DNA probes for recycling amplification and signal-on electrochemical detection of hereditary tyrosinemia type I gene. ( 26181647 )
2015

Variations for Tyrosinemia

ClinVar genetic disease variations for Tyrosinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAH NM_000137.2(FAH): c.1062+5G> A single nucleotide variant Pathogenic rs80338901 GRCh37 Chromosome 15, 80472572: 80472572
2 FAH NM_000137.2(FAH): c.554-1G> T single nucleotide variant Pathogenic rs80338895 GRCh37 Chromosome 15, 80460605: 80460605

Expression for Tyrosinemia

Search GEO for disease gene expression data for Tyrosinemia.

Pathways for Tyrosinemia

Pathways related to Tyrosinemia according to KEGG:

36
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Phenylalanine metabolism hsa00360

GO Terms for Tyrosinemia

Cellular components related to Tyrosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.28 AFP ALAD CYCS FAH GSTZ1 HPD

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.62 ALAD FAH GSTZ1 PAH
2 tyrosine catabolic process GO:0006572 9.46 FAH GSTZ1 HPD TAT
3 response to glucocorticoid GO:0051384 9.4 ALAD TAT
4 cellular amino acid metabolic process GO:0006520 9.37 PTS TAT
5 L-phenylalanine catabolic process GO:0006559 9.35 FAH GSTZ1 HPD PAH TAT
6 response to mercury ion GO:0046689 9.26 ALAD TAT
7 aromatic amino acid family metabolic process GO:0009072 9.02 FAH GSTZ1 HPD PAH TAT

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.17 AFP ALAD CYCS FAH HPD PAH

Sources for Tyrosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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