MCID: TYR001
MIFTS: 35

Tyrosinemia Type Iii malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Nephrological diseases, Cancer diseases, Eye diseases, Skin diseases, Gastrointestinal diseases categories
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Summaries for Tyrosinemia Type Iii

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Tyrosinemia Type Iii, also known as tyrosinemia, type iii, is related to tyrosinemia and ataxia. An important gene associated with Tyrosinemia Type Iii is HPD (4-hydroxyphenylpyruvate dioxygenase). Affiliated tissues include liver, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:8 A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

Description from OMIM:47 276710

Aliases & Classifications for Tyrosinemia Type Iii

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tyrosinemia type iii 8 43 10 49
tyrosinemia, type iii 9 47 62
tyrosinemia type 3 43 20 49
4-hydroxyphenylpyruvate dioxygenase deficiency 43 22
tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency 49
tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency 49
4-alpha hydroxyphenylpyruvate dioxygenase deficiency 43
4-alpha hydroxyphenylpyruvic acid oxidase deficiency 43
tyrosinemia due to hpd deficiency 49


External Ids:

Disease Ontology8 DOID:0050727
OMIM47 276710
ICD10 via Orphanet26 E70.2
SNOMED-CT via Orphanet59 413356003, 415764005
UMLS via Orphanet63 C0268623

Related Diseases for Tyrosinemia Type Iii

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17GeneCards, 18GeneDecks
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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
1tyrosinemia30.9HPD
2ataxia10.4
3hawkinsinuria10.2

Symptoms for Tyrosinemia Type Iii

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47OMIM
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Symptoms by clinical synopsis from OMIM:

276710

Clinical features from OMIM:

276710

Drugs & Therapeutics for Tyrosinemia Type Iii

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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Tyrosinemia Type Iii:

33
Liver

Animal Models for Tyrosinemia Type Iii or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Tyrosinemia Type Iii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1EN1, HPD

Publications for Tyrosinemia Type Iii

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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Tyrosinemia Type Iii:

64
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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tyrosinemia Type Iii

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tyrosinemia Type Iii

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet