MCID: TYR011
MIFTS: 39

Tyrosinemia, Type Iii malady

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

Aliases & Classifications for Tyrosinemia, Type Iii

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Aliases & Descriptions for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii 51 12 67
Tyrosinemia Type Iii 11 47 24 53 69 13
4-Hydroxyphenylpyruvate Dioxygenase Deficiency 47 24 69 26
Tyrosinemia Type 3 47 53
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 53
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 53
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency 47
 
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 47
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 69
4-Hydroxyphenylpyruvate Dioxygenase 12
Tyrosinemia Due to Hpd Deficiency 53
Tyrosinemia 3 69
Tyrsn3 69

Characteristics:

Orphanet epidemiological data:

53
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
tyrosinemia, type iii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276710
Disease Ontology11 DOID:0050727
Orphanet53 ORPHA69723
UMLS via Orphanet68 C0268623
ICD10 via Orphanet30 E70.2
MedGen36 C0268623
MeSH38 D020176

Summaries for Tyrosinemia, Type Iii

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NIH Rare Diseases:47 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 are Ubiquinol biosynthesis and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. 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:51 Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

UniProtKB/Swiss-Prot:69 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1hawkinsinuria29.9EN1, FAH, HPD, TAT
2tyrosinemia, type i11.0
3tyrosinemia10.1
4ataxia10.0
5glioma susceptibility 49.5FAH, HPD
6ciliary dyskinesia, primary, 59.5FAH, TAT
7alkaptonuria9.3FAH, HPD
8hyperhomocysteinemia9.1FAH, HPD, TAT

Graphical network of diseases related to Tyrosinemia, Type Iii:



Diseases related to tyrosinemia, type iii

Symptoms for Tyrosinemia, Type Iii

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Symptoms by clinical synopsis from OMIM:

276710

Clinical features from OMIM:

276710

Human phenotypes related to Tyrosinemia, Type Iii:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 seizures63 HP:0001250
2 intellectual disability, mild63 HP:0001256
3 abnormality of the liver63 HP:0001392
4 4-hydroxyphenylpyruvic aciduria63 HP:0003161
5 hypertyrosinemia63 HP:0003231
6 4-hydroxyphenylacetic aciduria63 HP:0003607

UMLS symptoms related to Tyrosinemia, Type Iii:


seizures

Drugs & Therapeutics for Tyrosinemia, Type Iii

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitisinoneapproved, investigationalPhase 3, Phase 2, Phase 114104206-65-7115355
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:

idNameStatusNCT IDPhase
1Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1CompletedNCT02323529Phase 3
2Nitisinone (NTBC) In Different Age Groups Of Patients With AlkaptonuriaActive, not recruitingNCT01390077Phase 2, Phase 3
3Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type ICompletedNCT00004333Phase 2
4Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)CompletedNCT02750345Phase 1
5Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)CompletedNCT02750332Phase 1
6Taste and Palatability of Orfadin SuspensionCompletedNCT01734889Phase 1
7Bioequivalence Study of Two Nitisinone Formulations Compared to OrfadinCompletedNCT02750709Phase 1
8Study of NTBC for Tyrosinemia ICompletedNCT00004443
9Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical CareEnrolling by invitationNCT02320084

Search NIH Clinical Center for Tyrosinemia, Type Iii

Genetic Tests for Tyrosinemia, Type Iii

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Genetic tests related to Tyrosinemia, Type Iii:

id Genetic test Affiliating Genes
1 4-Hydroxyphenylpyruvate Dioxygenase Deficiency26
2 Tyrosinemia Type Iii24 HPD

Anatomical Context for Tyrosinemia, Type Iii

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MalaCards organs/tissues related to Tyrosinemia, Type Iii:

35
Liver, Neutrophil

Animal Models for Tyrosinemia, Type Iii or affiliated genes

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Publications for Tyrosinemia, Type Iii

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Articles related to Tyrosinemia, Type Iii:

idTitleAuthorsYear
1
Tyrosinemia Type III detected via neonatal screening: management and outcome. (23036342)
2012
2
Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III. (18657947)
2009
3
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (11073718)
2000
4
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. (10942115)
2000
5
Tyrosinemia type III: diagnosis and ten-year follow-up. (9343288)
1997

Variations for Tyrosinemia, Type Iii

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

69
id Symbol AA change Variation ID SNP ID
1HPDp.Tyr160CysVAR_015445rs28934278
2HPDp.Ala268ValVAR_015447
3HPDp.Ile335MetVAR_015448

Clinvar genetic disease variations for Tyrosinemia, Type Iii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPDNM_001171993.1(HPD): c.362A> G (p.Tyr121Cys)SNVPathogenicrs137852865GRCh37Chr 12, 122287632: 122287632
2HPDNM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)SNVPathogenicrs137852866GRCh37Chr 12, 122284825: 122284825
3HPDNM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)SNVPathogenicrs137852867GRCh37Chr 12, 122285117: 122285117
4HPDNM_002150.2(HPD): c.1005C> G (p.Ile335Met)SNVPathogenicrs137852868GRCh37Chr 12, 122277904: 122277904

Expression for genes affiliated with Tyrosinemia, Type Iii

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

GO Terms for genes affiliated with Tyrosinemia, Type Iii

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

idNameGO IDScoreTop Affiliating Genes
1L-phenylalanine catabolic processGO:00065598.6FAH, HPD, TAT
2tyrosine catabolic processGO:00065728.3FAH, HPD, TAT

Sources for Tyrosinemia, Type Iii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet