MCID: TYR001
MIFTS: 38

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

Summaries for Tyrosinemia Type Iii

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NIH Rare Diseases:42 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 3, is related to tyrosinemia and ataxia, 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:46 Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of... (276710) more...

Aliases & Classifications for Tyrosinemia Type Iii

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 11DISEASES, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Tyrosinemia Type Iii, Aliases & Descriptions:

Name: Tyrosinemia Type Iii 9 42 11 48
Tyrosinemia Type 3 42 21 48 61
4-Hydroxyphenylpyruvate Dioxygenase Deficiency 42 23 61
Tyrosinemia, Type Iii 10 46 61
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency 48
 
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency 48
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 42
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency 42
Tyrosinemia Due to Hpd Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology9 DOID:0050727
OMIM46 276710
ICD10 via Orphanet27 E70.2
UMLS via Orphanet62 C0268623

Related Diseases for Tyrosinemia Type Iii

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Diseases in the Tyrosinemia Type I family:

tyrosinemia type iii Tyrosinemia Type Ii
Tyrosinemia Tyrosinemia, Type Ib

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

idRelated DiseaseScoreTop Affiliating Genes
1tyrosinemia31.0HPD
2ataxia10.4
3tyrosinemia type i10.2
4hawkinsinuria10.2

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 Iii21 HPD
2 4-Hydroxyphenylpyruvate Dioxygenase Deficiency23

Anatomical Context for Tyrosinemia Type Iii

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MalaCards organs/tissues related to Tyrosinemia Type Iii:

32
Liver, Neutrophil

Animal Models for Tyrosinemia Type Iii or affiliated genes

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MGI Mouse Phenotypes related to Tyrosinemia Type Iii:

36
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:

63
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:

7
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Tyrosinemia Type Iii

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet