MCID: TYR011
MIFTS: 34

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:
45OMIM, 10diseasecard, 60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Tyrosinemia, Type Iii, Aliases & Descriptions:

Name: Tyrosinemia, Type Iii 45 10 60
Tyrosinemia Type Iii 9 41 11 47
Tyrosinemia Type 3 41 20 47
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 41 47
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 41 47
 
4-Hydroxyphenylpyruvate Dioxygenase Deficiency 41 22
Tyrosinemia Due to Hpd Deficiency 41 47
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency 41
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 41
4-Hydroxyphenylpyruvate Dioxygenase 10


Classifications:



Characteristics (Orphanet epidemiological data):

47
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 276710
Disease Ontology9 DOID:0050727
Orphanet47 69723
ICD10 via Orphanet26 E70.2
UMLS via Orphanet61 C0268623

Summaries for Tyrosinemia, Type Iii

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NIH Rare Diseases:41 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). Affiliated tissues include liver and neutrophil, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:9 A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM:45 Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

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 12)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia31.0HPD
2renal cell carcinoma, papillary10.3
3wilms tumor10.3
4colorectal adenoma10.3
5pulmonary fibrosis10.3
6renal oncocytoma10.3
7influenza10.3
8neuropathy10.3
9peripheral neuropathy10.3
10ataxia10.3
11hawkinsinuria10.2
12tyrosinemia, type i10.2

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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Drug clinical trials:

Search ClinicalTrials for Tyrosinemia, Type Iii

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 Iii20 HPD
2 4-Hydroxyphenylpyruvate Dioxygenase Deficiency22

Anatomical Context for Tyrosinemia, Type Iii

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MalaCards organs/tissues related to Tyrosinemia, Type Iii:

31
Liver, Neutrophil

Animal Models for Tyrosinemia, Type Iii or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia, Type Iii:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1EN1, HPD

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:

62
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:

6
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.

Pathways for genes affiliated with Tyrosinemia, Type Iii

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Compounds for genes affiliated with Tyrosinemia, Type Iii

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GO Terms for genes affiliated with Tyrosinemia, Type Iii

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Products for genes affiliated with Tyrosinemia, Type Iii

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Sources for Tyrosinemia, Type Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet