MCID: TYR004
MIFTS: 45

Tyrosinemia malady

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

Aliases & Classifications for Tyrosinemia

Aliases & Descriptions for Tyrosinemia:

Name: Tyrosinemia 12 25 14
Hypertyrosinemia 25 29 69
Tyrosinemias 52 42 69
Hereditary Hypertyrosinemia 69
Hereditary Tyrosinemia 25
Hypertyrosinaemia 25
Tyrosinaemia 25

Classifications:



External Ids:

Disease Ontology 12 DOID:9275
ICD10 33 E70.21
MeSH 42 D020176
NCIt 47 C98640
SNOMED-CT 64 190694001
UMLS 69 C0268483

Summaries for Tyrosinemia

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 tyrosinemia, type i and tyrosinemia, type ii. An important gene associated with Tyrosinemia is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and testes, and related phenotypes are homeostasis/metabolism and pigmentation

Disease Ontology : 12 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

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 top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 tyrosinemia, type i 12.5
2 tyrosinemia, type ii 12.5
3 tyrosinemia, type iii 12.4
4 transient tyrosinemia of the newborn 11.9
5 hawkinsinuria 11.7
6 glycine n-methyltransferase deficiency 10.8
7 childhood hepatocellular carcinoma 10.8
8 ciliary dyskinesia, primary, 5 10.1 FAH TAT
9 hepatitis 10.1
10 hanhart syndrome 10.1
11 hepatocellular carcinoma 10.1
12 myopathy with lactic acidosis, hereditary 10.1 FAH HPD TAT
13 dowling-degos disease 4 10.0 FAH GSTZ1 HPD
14 borderline glaucoma 10.0 FAH PAH
15 cataract 20, multiple types 10.0 FAH PAH
16 liver disease 10.0
17 7q11.23 duplication syndrome 9.9 PAH PTS
18 keratitis 9.9
19 small cell carcinoma 9.9 AFP PTS
20 atrial fibrillation, familial, 4 9.9 BTD PTS
21 x-linked intellectual disability, seemanova type 9.9 PAH PTS
22 obesity, morbid, due to leptin receptor deficiency 9.9 BTD PAH
23 idiopathic malabsorption due to bile acid synthesis defects 9.9 PAH PTS
24 hypermethioninemia 9.8
25 pancreatitis 9.8
26 alkaptonuria 9.8
27 porphyria 9.8
28 keratosis 9.8
29 hyperphenylalaninemia 9.8
30 pseudo-gaucher disease 9.7 PAH PTS
31 leopard syndrome 1 9.7 BTD PAH PTS
32 weill-marchesani-like syndrome 9.7 AFP ALAD FAH GSTZ1 HPD
33 leiomyomatosis and renal cell cancer 9.6
34 angelman syndrome 9.6
35 acute liver failure 9.6
36 keratopathy 9.6
37 liver cirrhosis 9.6
38 lennox-gastaut syndrome 9.6
39 metabolic acidosis 9.6
40 rickets 9.6
41 fanconi syndrome 9.6
42 cholestasis 9.6
43 acute pancreatitis 9.6
44 lactic acidosis 9.6
45 myopathy 9.6
46 leiomyomatosis 9.6
47 hepatoblastoma 9.6
48 neuropathy 9.6
49 splenomegaly 9.6
50 cardiomyopathy 9.6

Graphical network of the top 20 diseases related to Tyrosinemia:



Diseases related to Tyrosinemia

Symptoms & Phenotypes for Tyrosinemia

MGI Mouse Phenotypes related to Tyrosinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 FAH GSTZ1 HPD PAH PTS AFP
2 pigmentation MP:0001186 9.13 BTD PAH PTS
3 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):


id 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:


id Name Status NCT ID Phase
1 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3
2 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, Phase 3
3 Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I Completed NCT00004333 Phase 2
4 Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750345 Phase 1
5 Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Completed NCT02750332 Phase 1
6 Taste and Palatability of Orfadin Suspension Completed NCT01734889 Phase 1
7 Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Completed NCT02750709 Phase 1
8 Study of NTBC for Tyrosinemia I Completed NCT00004443
9 Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care Enrolling by invitation NCT02320084

Search NIH Clinical Center for Tyrosinemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: tyrosinemias

Genetic Tests for Tyrosinemia

Genetic tests related to Tyrosinemia:

id Genetic test Affiliating Genes
1 Hypertyrosinemia 29

Anatomical Context for Tyrosinemia

MalaCards organs/tissues related to Tyrosinemia:

39
Liver, Kidney, Testes, Brain, Neutrophil, Bone, Skin

Publications for Tyrosinemia

Articles related to Tyrosinemia:

(show top 50) (show all 409)
id Title Authors Year
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
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. ( 27285949 )
2016
4
In brief: Nitisinone (Orfadin) for hereditary tyrosinemia. ( 27701365 )
2016
5
Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. ( 27271696 )
2016
6
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. ( 27487552 )
2016
7
Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. ( 27282650 )
2016
8
Tyrosinemia type I: Case series with response to treatment to NTBC. ( 27109516 )
2016
9
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1. ( 27052529 )
2016
10
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. ( 27510266 )
2016
11
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I. ( 27308087 )
2016
12
Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis. ( 27013087 )
2016
13
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. ( 27464750 )
2016
14
The outcome of seven patients with hereditary tyrosinemia type 1. ( 27682708 )
2016
15
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing. ( 27093575 )
2016
16
Tyrosinemia Presenting With Multiple Hepatic Lesions and Splenomegaly. ( 27898518 )
2016
17
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. ( 27356512 )
2016
18
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone. ( 27188289 )
2016
19
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. ( 27397503 )
2016
20
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia typeA 1 (HT1). ( 26551707 )
2015
21
Diagnosis and treatment of hereditary tyrosinemia in Japan. ( 25443793 )
2015
22
Noninvasive 3-dimensional imaging of liver regeneration in a mouse model of hereditary tyrosinemia type 1 using the sodium iodide symporter gene. ( 25482651 )
2015
23
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. ( 26565546 )
2015
24
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. ( 25681080 )
2015
25
Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1. ( 26360553 )
2015
26
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. ( 25784227 )
2015
27
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya. ( 26495099 )
2015
28
Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. ( 26157182 )
2015
29
50 Years Ago in TheJournal ofPediatrics: Tyrosinemia - An Inborn Error of Tyrosine Metabolism with Cirrhosis of the Liver and Multiple Renal Defects. ( 25819913 )
2015
30
Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I. ( 26322918 )
2015
31
Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP. ( 25667247 )
2015
32
Target-induced reconfiguration of DNA probes for recycling amplification and signal-on electrochemical detection of hereditary tyrosinemia type I gene. ( 26181647 )
2015
33
Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia. ( 26118180 )
2015
34
Tyrosinemia type 1: an overview of nursing care. ( 24941508 )
2014
35
Hereditary tyrosinemia type 1 in Turkey: A twenty-year single center experience. ( 25223216 )
2014
36
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? ( 25256450 )
2014
37
Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I. ( 24762634 )
2014
38
In vivo confocal microscopic features of corneal pseudodendritic lesions in tyrosinemia type II. ( 25119963 )
2014
39
Liver Transplant for Children With Hepatocellular Carcinoma and Hereditary Tyrosinemia Type 1. ( 24679101 )
2014
40
HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1. ( 24852359 )
2014
41
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
42
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. ( 25117105 )
2014
43
Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1. ( 25172236 )
2014
44
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. ( 24756054 )
2014
45
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico. ( 24552869 )
2014
46
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. ( 25066104 )
2014
47
Pregnancy in an NTBC-Treated Patient with Hereditary Tyrosinemia Type I. ( 23838819 )
2013
48
Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. ( 23138988 )
2013
49
Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone. ( 24238861 )
2013
50
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. ( 24016420 )
2013

Variations for Tyrosinemia

ClinVar genetic disease variations for Tyrosinemia:

6
id 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

GO Terms for Tyrosinemia

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.23 AFP ALAD FAH GSTZ1 HPD PAH

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.62 PAH TAT

Sources for Tyrosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....