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

Summaries for Tyrosinemia Type Iii

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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:9 A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

Description from OMIM:48 276710

Aliases & Classifications for Tyrosinemia Type Iii

About this section
Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
tyrosinemia type iii:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tyrosinemia type iii 9 44 11 50
tyrosinemia, type iii 10 48 63
tyrosinemia type 3 44 21 50
4-hydroxyphenylpyruvate dioxygenase deficiency 44 23
tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency 50
tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency 50
4-alpha hydroxyphenylpyruvate dioxygenase deficiency 44
4-alpha hydroxyphenylpyruvic acid oxidase deficiency 44
tyrosinemia due to hpd deficiency 50


External Ids:

Disease Ontology9 DOID:0050727
OMIM48 276710
ICD10 via Orphanet27 E70.2
SNOMED-CT via Orphanet60 413356003, 415764005
UMLS via Orphanet64 C0268623

Related Diseases for Tyrosinemia Type Iii

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

276710

Clinical features from OMIM:

276710

Drugs & Therapeutics for Tyrosinemia Type Iii

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Tyrosinemia Type Iii

Drug clinical trials:

Search ClinicalTrials for Tyrosinemia Type Iii

Search NIH Clinical Center for Tyrosinemia Type Iii

Search CenterWatch for Tyrosinemia Type Iii

Genetic Tests for Tyrosinemia Type Iii

About this section
Sources:
21GeneTests, 23GTR
See all sources

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

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Tyrosinemia Type Iii:

34
Liver

Animal Models for Tyrosinemia Type Iii or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Tyrosinemia Type Iii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.1EN1, HPD

Publications for Tyrosinemia Type Iii

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Tyrosinemia Type Iii

About this section

GO Terms for genes affiliated with Tyrosinemia Type Iii

About this section

Products for genes affiliated with Tyrosinemia Type Iii

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tyrosinemia Type Iii

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet