Tyrosinemia, Type Iii (TYRSN3) malady

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

Aliases & Classifications for Tyrosinemia, Type Iii

Aliases & Descriptions for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii 54 13 69
Tyrosinemia Type Iii 12 50 24 56 66 14
4-Hydroxyphenylpyruvate Dioxygenase Deficiency 50 24 66 29
Tyrosinemia Type 3 50 56
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 56
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 56
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 50
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency 50
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 66
4-Hydroxyphenylpyruvate Dioxygenase 13
Tyrosinemia Due to Hpd Deficiency 56
Tyrosinemia 3 66
Tyrsn3 66


Orphanet epidemiological data:

tyrosinemia type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;


tyrosinemia, type iii:
Inheritance autosomal recessive inheritance


Orphanet: 56  
Inborn errors of metabolism

External Ids:

OMIM 54 276710
Disease Ontology 12 DOID:0050727
Orphanet 56 ORPHA69723
UMLS via Orphanet 70 C0268623
ICD10 via Orphanet 34 E70.2
MedGen 40 C0268623
MeSH 42 D020176

Summaries for Tyrosinemia, Type Iii

NIH Rare Diseases : 50 tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. this condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. this enzyme shortage is caused by mutations in the hpd gene. characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). tyrosinemia type 3 is inherited in an autosomal recessive manner. last updated: 2/3/2010

MalaCards based summary : Tyrosinemia, Type Iii, also known as tyrosinemia type iii, is related to hawkinsinuria and tyrosinemia, type i, and has symptoms including seizures, intellectual disability, mild and abnormality of the liver. An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Amino Acid metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver and neutrophil.

Disease Ontology : 12 A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM : 54 Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

UniProtKB/Swiss-Prot : 66 Tyrosinemia 3: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.

Related Diseases for Tyrosinemia, Type Iii

Diseases in the Tyrosinemia family:

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

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

id Related Disease Score Top Affiliating Genes
1 hawkinsinuria 11.3
2 tyrosinemia, type i 11.0
3 tyrosinemia 10.1
4 ciliary dyskinesia, primary, 5 9.8 FAH TAT
5 dowling-degos disease 4 9.8 FAH HPD
6 weill-marchesani-like syndrome 9.7 FAH HPD
7 myocardium cancer 9.6 FAH HPD TAT
8 myopathy with lactic acidosis, hereditary 9.4 EN1 FAH HPD TAT

Graphical network of the top 20 diseases related to Tyrosinemia, Type Iii:

Diseases related to Tyrosinemia, Type Iii

Symptoms & Phenotypes for Tyrosinemia, Type Iii

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Tyrosinemia, Type Iii:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability, mild 32 HP:0001256
3 abnormality of the liver 32 HP:0001392
4 4-hydroxyphenylpyruvic aciduria 32 HP:0003161
5 4-hydroxyphenylacetic aciduria 32 HP:0003607
6 hypertyrosinemia 32 HP:0003231

UMLS symptoms related to Tyrosinemia, Type Iii:


Drugs & Therapeutics for Tyrosinemia, Type Iii

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

id Name Status Phase Clinical Trials Cas Number PubChem Id
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, Type Iii

Genetic Tests for Tyrosinemia, Type Iii

Genetic tests related to Tyrosinemia, Type Iii:

id Genetic test Affiliating Genes
1 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 29
2 Tyrosinemia Type Iii 24 HPD

Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

Liver, Neutrophil

Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

id Title Authors Year
Tyrosinemia Type III detected via neonatal screening: management and outcome. ( 23036342 )
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. ( 18657947 )
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ( 11073718 )
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. ( 10942115 )
Tyrosinemia type III: diagnosis and ten-year follow-up. ( 9343288 )

Variations for Tyrosinemia, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia, Type Iii:

id Symbol AA change Variation ID SNP ID
1 HPD p.Tyr160Cys VAR_015445 rs28934278
2 HPD p.Ala268Val VAR_015447
3 HPD p.Ile335Met VAR_015448

ClinVar genetic disease variations for Tyrosinemia, Type Iii:

id Gene Variation Type Significance SNP ID Assembly Location
1 HPD NM_001171993.1(HPD): c.362A> G (p.Tyr121Cys) single nucleotide variant Pathogenic rs137852865 GRCh37 Chromosome 12, 122287632: 122287632
2 HPD NM_001171993.1(HPD): c.657T> G (p.Tyr219Ter) single nucleotide variant Pathogenic rs137852866 GRCh37 Chromosome 12, 122284825: 122284825
3 HPD NM_001171993.1(HPD): c.483C> G (p.Tyr161Ter) single nucleotide variant Pathogenic rs137852867 GRCh37 Chromosome 12, 122285117: 122285117

Expression for Tyrosinemia, Type Iii

Search GEO for disease gene expression data for Tyrosinemia, Type Iii.

Pathways for Tyrosinemia, Type Iii

GO Terms for Tyrosinemia, Type Iii

Biological processes related to Tyrosinemia, Type Iii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 L-phenylalanine catabolic process GO:0006559 9.33 FAH HPD TAT
2 aromatic amino acid family metabolic process GO:0009072 9.13 FAH HPD TAT
3 tyrosine catabolic process GO:0006572 8.8 FAH HPD TAT

Sources for Tyrosinemia, Type Iii

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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