MCID: TYR005
MIFTS: 21

Tyrosine Hydroxylase Deficiency malady

Summaries for Tyrosine Hydroxylase Deficiency

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Sources:
21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.

MalaCards: Tyrosine Hydroxylase Deficiency, also known as segawa syndrome, autosomal recessive, is related to tyrosine hydroxylase-deficient dopa-responsive dystonia and segawa syndrome, recessive. An important gene associated with Tyrosine Hydroxylase Deficiency is TH (tyrosine hydroxylase). The compounds 6-pyruvoyltetrahydropterin and 4a-hydroxytetrahydrobiopterin have been mentioned in the context of this disorder.

Wikipedia:63 Tyrosine hydroxylase or tyrosine 3-monooxygenase is the enzyme responsible for catalyzing the conversion... more...

GeneReviews summary for thdrd

Aliases & Classifications for Tyrosine Hydroxylase Deficiency

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

tyrosine hydroxylase deficiency 19 20 21
segawa syndrome, autosomal recessive 21 60
autosomal recessive infantile parkinsonism 21
th-deficient drd 21
th deficiency 21


Related Diseases for Tyrosine Hydroxylase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Tyrosine Hydroxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1tyrosine hydroxylase-deficient dopa-responsive dystonia10.3
2segawa syndrome, recessive10.3
3myoclonus-dystonia10.2
4segawa syndrome, autosomal recessive10.2
5infantile parkinsonism-dystonia10.2
6phenylketonuria10.0GCH1
7vitiligo10.0GCH1
8insulin resistance10.0TH
9gtp cyclohydrolase i deficiency10.0TH, GCH1
10hyperphenylalaninemia10.0TH, GCH1
11movement disease10.0GCH1, TH
12parkinson's disease10.0TH, GCH1
13pheochromocytoma10.0GCH1, TH
14bipolar disorder10.0TH, GCH1

Graphical network of diseases related to Tyrosine Hydroxylase Deficiency:



Diseases related to tyrosine hydroxylase deficiency

Clinical Features for Tyrosine Hydroxylase Deficiency

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Drugs & Therapeutics for Tyrosine Hydroxylase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tyrosine Hydroxylase Deficiency

Drug clinical trials:

Search ClinicalTrials for Tyrosine Hydroxylase Deficiency

Search NIH Clinical Center for Tyrosine Hydroxylase Deficiency

Search CenterWatch for Tyrosine Hydroxylase Deficiency

Genetic Tests for Tyrosine Hydroxylase Deficiency

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20GeneTests
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Genetic tests related to Tyrosine Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Tyrosine Hydroxylase Deficiency20 TH

Anatomical Context for Tyrosine Hydroxylase Deficiency

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Animal Models for Tyrosine Hydroxylase Deficiency or affiliated genes

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Publications for Tyrosine Hydroxylase Deficiency

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Genetic Variations for Tyrosine Hydroxylase Deficiency

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Expression for genes affiliated with Tyrosine Hydroxylase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tyrosine Hydroxylase Deficiency

Search GEO for disease gene expression data for Tyrosine Hydroxylase Deficiency.

Pathways for genes affiliated with Tyrosine Hydroxylase Deficiency

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Compounds for genes affiliated with Tyrosine Hydroxylase Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
16-pyruvoyltetrahydropterin449.4TH, GCH1
24a-hydroxytetrahydrobiopterin44 2410.4TH, GCH1
3dihydrobiopterin44 2410.4TH, GCH1
4dihydropteridine44 2410.4TH, GCH1
5pteridine449.4GCH1, TH
6sepiapterin44 2410.4TH, GCH1
7l-amino acid449.4TH, GCH1
8tetrahydrobiopterin44 11 2411.4TH, GCH1
9mptp449.3GCH1, TH
10levodopa44 1110.3TH, GCH1
11catecholamine449.3TH, GCH1
12phenylalanine449.2TH, GCH1
13epinephrine44 11 2411.2GCH1, TH
14norepinephrine44 11 2411.1TH, GCH1
15h2o2449.1TH, GCH1
16gtp44 2810.0TH, GCH1
17dopamine44 28 11 2411.8TH, GCH1

GO Terms for genes affiliated with Tyrosine Hydroxylase Deficiency

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16Gene Ontology
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Cellular components related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:0314109.1TH, GCH1

Biological processes related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to lipopolysaccharideGO:0324969.1TH, GCH1
2dopamine biosynthetic processGO:0424168.8TH, GCH1

Products for genes affiliated with Tyrosine Hydroxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tyrosine Hydroxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet