MCID: TYR011
MIFTS: 41

Tyrosinemia, Type Iii malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Cancer diseases, Eye diseases, Skin diseases, Gastrointestinal diseases categories

Aliases & Classifications for Tyrosinemia, Type Iii

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Sources:
49OMIM, 11diseasecard, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Tyrosinemia, Type Iii:

Name: Tyrosinemia, Type Iii 49 11 65
Tyrosinemia Type Iii 10 45 12 51 67
4-Hydroxyphenylpyruvate Dioxygenase Deficiency 45 22 24 67
Tyrosinemia Type 3 45 22 51
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 51
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 51
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency 45
 
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 45
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 67
4-Hydroxyphenylpyruvate Dioxygenase 11
Tyrosinemia Due to Hpd Deficiency 51
Tyrosinemia 3 67
Tyrsn3 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 276710
Disease Ontology10 DOID:0050727
Orphanet51 69723
ICD10 via Orphanet28 E70.2
UMLS via Orphanet66 C0268623
MedGen34 C0268623
MeSH36 D020176

Summaries for Tyrosinemia, Type Iii

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NIH Rare Diseases:45 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 tyrosinemia and renal cell carcinoma, papillary, and has symptoms including autosomal recessive inheritance, seizures and intellectual disability, mild. 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, neutrophil and skin.

Disease Ontology:10 A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM:49 Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

UniProtKB/Swiss-Prot:67 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:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia10.6
2renal cell carcinoma, papillary10.3
3renal cell carcinoma10.3
4chromophobe renal cell carcinoma10.3
5renal oncocytoma10.3
6polycystic kidney disease10.3
7influenza10.3
8neuropathy10.3
9peripheral neuropathy10.3
10ataxia10.3
11hawkinsinuria10.2
12tyrosinemia, type i10.2
13otosclerosis 49.8FAH, TAT
14alkaptonuria9.8FAH, HPD
15glioma susceptibility 49.7FAH, HPD
16ulcerative stomatitis9.6FAH, HPD, TAT
17tyrosinemia, type iii9.4EN1, FAH, 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

HPO human phenotypes related to Tyrosinemia, Type Iii:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 intellectual disability, mild HP:0001256
4 abnormality of the liver HP:0001392
5 4-hydroxyphenylpyruvic aciduria HP:0003161
6 hypertyrosinemia HP:0003231
7 4-hydroxyphenylacetic aciduria HP:0003607

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 111104206-65-7115355
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
4Taste and Palatability of Orfadin SuspensionCompletedNCT01734889Phase 1
5Study of NTBC for Tyrosinemia ICompletedNCT00004443
6Long 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 Tyrosinemia Type Iii22 HPD
2 4-Hydroxyphenylpyruvate Dioxygenase Deficiency24

Anatomical Context for Tyrosinemia, Type Iii

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MalaCards organs/tissues related to Tyrosinemia, Type Iii:

33
Liver, Neutrophil, Skin, Eye

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-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. (10942115)
2000
4
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (11073718)
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:

67
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)single nucleotide variantPathogenicrs137852865GRCh37Chr 12, 122287632: 122287632
2HPDNM_001171993.1(HPD): c.657T> G (p.Tyr219Ter)single nucleotide variantPathogenicrs137852866GRCh37Chr 12, 122284825: 122284825
3HPDNM_001171993.1(HPD): c.483C> G (p.Tyr161Ter)single nucleotide variantPathogenicrs137852867GRCh37Chr 12, 122285117: 122285117
4HPDNM_001171993.1(HPD): c.888C> G (p.Ile296Met)single nucleotide variantPathogenicrs137852868GRCh37Chr 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:00065599.2FAH, HPD, TAT
2tyrosine catabolic processGO:00065729.2FAH, HPD, TAT
3aromatic amino acid family metabolic processGO:00090729.2FAH, HPD, TAT
4small molecule metabolic processGO:00442818.6FAH, HPD, TAT
5cellular nitrogen compound metabolic processGO:00346418.3FAH, HPD, TAT

Sources for Tyrosinemia, Type Iii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet