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

Aliases & Classifications for Tyrosinemia, Type Iii

Sources:
¹¹Disease Ontology, ¹²diseasecard, ¹³DISEASES, ²⁴GeneTests, ²⁷GTR, ³¹ICD10 via Orphanet, ³⁷MedGen, ³⁹MeSH, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii ⁵² ¹² ⁶⁸

Tyrosinemia Type Iii ¹¹ ⁴⁸ ²⁴ ⁵⁴ ⁷⁰ ¹³

4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁴⁸ ²⁴ ⁷⁰ ²⁷

Tyrosinemia Type 3 ⁴⁸ ⁵⁴

Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency ⁵⁴

Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁵⁴

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁴⁸

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency ⁴⁸

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency ⁷⁰

4-Hydroxyphenylpyruvate Dioxygenase ¹²

Tyrosinemia Due to Hpd Deficiency ⁵⁴

Tyrosinemia 3 ⁷⁰

Tyrsn3 ⁷⁰

Characteristics:

Orphanet epidemiological data:

⁵⁴

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

HPO:

⁶⁴

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: ³¹

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of aromatic amino-acid metabolism

Disorders of tyrosine metabolism

Orphanet: ⁵⁴

Inborn errors of metabolism

External Ids:

OMIM⁵² 276710

Disease Ontology¹¹ DOID:0050727

Orphanet⁵⁴ ORPHA69723

UMLS via Orphanet⁶⁹ C0268623

ICD10 via Orphanet³¹ E70.2

MedGen³⁷ C0268623

MeSH³⁹ D020176

Summaries for Tyrosinemia, Type Iii

Sources:
¹¹Disease Ontology, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

NIH Rare Diseases:⁴⁸ 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, seizures and seizures. An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways are Ubiquinol biosynthesis and Amino Acid metabolism. Affiliated tissues include liver and neutrophil.

Disease Ontology:¹¹ A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM:⁵² Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

UniProtKB/Swiss-Prot:⁷⁰ 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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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 diseases related to Tyrosinemia, Type Iii:

Symptoms & Phenotypes for Tyrosinemia, Type Iii

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS
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Symptoms by clinical synopsis from OMIM:

276710

Clinical features from OMIM:

276710

Human phenotypes related to Tyrosinemia, Type Iii:

⁶⁴ (show all 6)

id	Description	HPO Source Accession
1	seizures⁶⁴	HP:0001250
2	intellectual disability, mild⁶⁴	HP:0001256
3	abnormality of the liver⁶⁴	HP:0001392
4	4-hydroxyphenylpyruvic aciduria⁶⁴	HP:0003161
5	hypertyrosinemia⁶⁴	HP:0003231
6	4-hydroxyphenylacetic aciduria⁶⁴	HP:0003607

UMLS symptoms related to Tyrosinemia, Type Iii:

seizures

Drugs & Therapeutics for Tyrosinemia, Type Iii

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
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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

15

104206-65-7

115355

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:

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

Sources:
²⁴GeneTests, ²⁷GTR
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Genetic tests related to Tyrosinemia, Type Iii:

id	Genetic test	Affiliating Genes
1	4-Hydroxyphenylpyruvate Dioxygenase Deficiency²⁷
2	Tyrosinemia Type Iii²⁴	HPD

Anatomical Context for Tyrosinemia, Type Iii

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Tyrosinemia, Type Iii:

³⁶

Liver, Neutrophil

Publications for Tyrosinemia, Type Iii

Sources:
⁵⁷PubMed
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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

Genes related to Tyrosinemia, Type Iii

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ²⁴GeneTests, ⁵²OMIM, ⁵⁴Orphanet, ⁷⁰UniProtKB/Swiss-Prot
See all MalaCards sources

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 ⁵² Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁴ Causative variation ⁷⁰ Genetic Tests ²⁴ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)	10942115, 9343288
2	EN1	Engrailed Homeobox 1	24.88	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
3	FAH	Fumarylacetoacetate Hydrolase	24.50	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)
4	TAT	Tyrosine Aminotransferase	24.42	DISEASES inferred ¹³ GeneCards inferred via : Disorders (show sections)

Variations for Tyrosinemia, Type Iii

Sources:
⁵Clinvar, ⁹dbSNP, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia, Type Iii:

⁷⁰

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:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HPD	NM_ 001171993.1(HPD): c.362A> G (p.Tyr121Cys)	SNV	Pathogenic	rs137852865	GRCh37	Chr 12, 122287632: 122287632
2	HPD	NM_ 001171993.1(HPD): c.657T> G (p.Tyr219Ter)	SNV	Pathogenic	rs137852866	GRCh37	Chr 12, 122284825: 122284825
3	HPD	NM_ 001171993.1(HPD): c.483C> G (p.Tyr161Ter)	SNV	Pathogenic	rs137852867	GRCh37	Chr 12, 122285117: 122285117

Expression for genes affiliated with Tyrosinemia, Type Iii

Sources:
¹⁸Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Tyrosinemia, Type Iii.

Pathways for genes affiliated with Tyrosinemia, Type Iii

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Ubiquinol biosynthesis⁶⁰ Show member pathways Ubiquinone and other terpenoid-quinone biosynthesis³⁴ ubiquinol-10 biosynthesis⁴²	9.4	HPD, TAT
2	Amino Acid metabolism⁴²	9.1	FAH, TAT
3	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism⁶⁰ Show member pathways Lysine biosynthesis³⁴ Lysine catabolism⁶⁰ Tryptophan catabolism⁶⁰ lysine degradation I (saccharopine pathway)⁴² L-kynurenine degradation⁴² tryptophan degradation⁴² 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA⁴² tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde⁴² Proline catabolism⁶⁰ proline degradation⁴² Phenylalanine and tyrosine catabolism⁶⁰ tyrosine degradation⁴² 2-oxoglutarate decarboxylation to succinyl-CoA⁴² 4-hydroxybenzoate biosynthesis⁴²	8.6	FAH, HPD, TAT
4	Tyrosine metabolism³⁴ Show member pathways Tyrosine metabolism p.1 (dopamine)⁶⁵ Phenylalanine metabolism³⁴ Phenylalanine, tyrosine and tryptophan biosynthesis³⁴	8.6	FAH, HPD, TAT

GO Terms for genes affiliated with Tyrosinemia, Type Iii

Sources:
¹⁹Gene Ontology
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Biological processes related to Tyrosinemia, Type Iii according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	aromatic amino acid family metabolic process	GO:0009072	8.9	FAH, HPD, TAT
2	L-phenylalanine catabolic process	GO:0006559	8.8	FAH, HPD, TAT
3	tyrosine catabolic process	GO:0006572	8.6	FAH, HPD, TAT