Tyrosinemia, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Characteristics:

Orphanet epidemiological data:

⁵⁶

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

HPO:

³²

tyrosinemia, type iii:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases Nephrological diseases Eye diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

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

Sources

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.

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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:

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Symptoms & Phenotypes for Tyrosinemia, Type Iii

Symptoms by clinical synopsis from OMIM:

276710

Clinical features from OMIM:

276710

Human phenotypes related to Tyrosinemia, Type Iii:

³² (show all 6)

id	Description	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:

seizures

Sources

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

1

Nitisinone

Approved, Investigational

Phase 3,Phase 2,Phase 1

104206-65-7

115355

Synonyms:

104206-65-7

2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione

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

Nitisinona

Nitisinone

Nitisinone (JAN/USAN/INN)

Nitisinone (NTBC)

Nitisinone [INN]

Nitisinone [USAN:INN]

nitisinonum

Nitisinonum

Nitisone

Orfadin

Orfadin (TN)

SC 0735

UNII-K5BN214699

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

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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

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Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

³⁹

Liver, Neutrophil

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Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

id	Title	Authors	Year
1	Tyrosinemia Type III detected via neonatal screening: management and outcome. ( 23036342 )	Heylen E....Nassogne M.C.	2012
2	Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. ( 18657947 )	D'Eufemia P....Zicari A.	2009
3	Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. ( 11073718 )	Tomoeda K....Endo F.	2000
4	Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. ( 10942115 )	Rueetschi U....Holme E.	2000
5	Tyrosinemia type III: diagnosis and ten-year follow-up. ( 9343288 )	Cerone R....Romano C.	1997

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Genes for Tyrosinemia, Type Iii

Genes related to Tyrosinemia, Type Iii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	HPD	4-Hydroxyphenylpyruvate Dioxygenase	1686.57	Molecular basis known ⁵⁴ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁶ Causative variation ⁶⁶ Genetic Tests ²⁴ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	10942115 9343288
2	EN1	Engrailed Homeobox 1	24.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
3	FAH	Fumarylacetoacetate Hydrolase	24.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
4	TAT	Tyrosine Aminotransferase	24.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)

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Variations for Tyrosinemia, Type Iii

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

⁶⁶

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:

⁶

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

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Expression for Tyrosinemia, Type Iii

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

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Pathways for Tyrosinemia, Type Iii

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

id	Super pathways	Score	Top Affiliating Genes
1	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶² Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine biosynthesis ³⁷ Lysine catabolism ⁶² lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶² Proline catabolism ⁶² proline degradation ¹ Tryptophan catabolism ⁶² tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.23	FAH HPD TAT
2	Amino Acid metabolism ¹	11.22	FAH TAT
3	Tyrosine metabolism ³⁷ Show member pathways Phenylalanine metabolism ³⁷ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁷ Tyrosine metabolism p.1 (dopamine) ²¹	10.67	FAH HPD TAT
4	Ubiquinol biosynthesis ⁶² Show member pathways ubiquinol-10 biosynthesis ¹ Ubiquinone and other terpenoid-quinone biosynthesis ³⁷	10.52	HPD TAT

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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

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Sources for Tyrosinemia, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ GeneTests

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MeSH

⁴³ MESH via Orphanet

⁴⁴ MGI

⁴⁵ NCBI Bookshelf

⁴⁶ NCI

⁴⁷ NCIt

⁴⁸ NDF-RT

⁴⁹ NIH Clinical Center

⁵⁰ NIH Rare Diseases

⁵¹ NINDS

⁵² Novoseek

⁵³ Novus Biologicals

⁵⁴ OMIM

⁵⁵ OMIM via Orphanet

⁵⁶ Orphanet

⁵⁷ PathCards

⁵⁸ PharmGKB

⁵⁹ PubMed

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via Orphanet

⁶⁶ UniProtKB/Swiss-Prot

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ Wikipedia

Tyrosinemia, Type Iii (TYRSN3) malady

Aliases & Classifications for Tyrosinemia, Type Iii

Aliases & Descriptions for Tyrosinemia, Type Iii:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Tyrosinemia, Type Iii

Related Diseases for Tyrosinemia, Type Iii

Diseases in the Tyrosinemia family:

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

Graphical network of the top 20 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:

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):

Interventional clinical trials:

Genetic Tests for Tyrosinemia, Type Iii

Genetic tests related to Tyrosinemia, Type Iii:

Anatomical Context for Tyrosinemia, Type Iii

MalaCards organs/tissues related to Tyrosinemia, Type Iii:

Publications for Tyrosinemia, Type Iii

Articles related to Tyrosinemia, Type Iii:

Genes for Tyrosinemia, Type Iii

Genes related to Tyrosinemia, Type Iii (1 elite genes):

Variations for Tyrosinemia, Type Iii

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

ClinVar genetic disease variations for Tyrosinemia, Type Iii:

Expression for Tyrosinemia, Type Iii

Pathways for Tyrosinemia, Type Iii

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

GO Terms for Tyrosinemia, Type Iii

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

Sources for Tyrosinemia, Type Iii