MCID: TYR005
MIFTS: 29

Tyrosine Hydroxylase Deficiency malady

Genetic diseases (common) category

Summaries for Tyrosine Hydroxylase Deficiency

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22Genetics Home Reference, 66Wikipedia, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 dystonia and tyrosine hydroxylase-deficient dopa-responsive dystonia. 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. Affiliated tissues include brain.

Wikipedia:66 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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20GeneReviews, 21GeneTests, 22Genetics Home Reference, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

tyrosine hydroxylase deficiency 20 21 22
segawa syndrome, autosomal recessive 22 63
autosomal recessive infantile parkinsonism 22
th-deficient drd 22
th deficiency 22


Related Diseases for Tyrosine Hydroxylase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Tyrosine Hydroxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1dystonia10.5
2tyrosine hydroxylase-deficient dopa-responsive dystonia10.3
3segawa syndrome, recessive10.3
4myoclonus-dystonia10.2
5infantile parkinsonism-dystonia10.2
6segawa syndrome, autosomal recessive10.2
7myoclonus10.2
8gtp cyclohydrolase i deficiency10.0TH, GCH1
9hyperphenylalaninemia10.0GCH1, TH
10movement disease10.0TH, GCH1
11parkinson's disease10.0GCH1, TH
12bipolar disorder10.0TH, GCH1
13pheochromocytoma9.9GCH1, TH

Graphical network of diseases related to Tyrosine Hydroxylase Deficiency:



Diseases related to tyrosine hydroxylase deficiency

Symptoms for Tyrosine Hydroxylase Deficiency

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Drugs & Therapeutics for Tyrosine Hydroxylase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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Genetic tests related to Tyrosine Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 Tyrosine Hydroxylase Deficiency21 TH

Anatomical Context for Tyrosine Hydroxylase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Tyrosine Hydroxylase Deficiency:

34
Brain

Animal Models for Tyrosine Hydroxylase Deficiency or affiliated genes

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Publications for Tyrosine Hydroxylase Deficiency

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53PubMed
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Articles related to Tyrosine Hydroxylase Deficiency:

(show all 21)
idTitleAuthorsYear
1
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. (23389938)
2013
2
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. (22691284)
2012
3
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. (22815559)
2012
4
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. (20823027)
2011
5
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (20430833)
2010
6
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. (20198643)
2010
7
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (20056467)
2010
8
Tyrosine hydroxylase deficiency with severe clinical course. (19282209)
2009
9
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. (18058633)
2007
10
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. (16049992)
2005
11
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. (14705130)
2004
12
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. (15505183)
2004
13
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. (12891655)
2003
14
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. (11921123)
2002
15
L-dopa and selegiline for tyrosine hydroxylase deficiency. (11241071)
2001
16
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. (11196107)
2000
17
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. (11134401)
2000
18
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. (10753262)
2000
19
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (10585338)
1999
20
Biochemical hallmarks of tyrosine hydroxylase deficiency. (9732974)
1998
21
Tyrosine Hydroxylase Deficiency (20301610)
1993

Variations for Tyrosine Hydroxylase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Tyrosine Hydroxylase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1THNM_199292.2(TH): c.1234C> A (p.Gln412Lys)single nucleotide variantPathogenicrs121917762GRCh37Chr 11, 2186957: 2186957
2THNM_199292.2(TH): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs121917763GRCh37Chr 11, 2189126: 2189126
3THNM_199292.2(TH): c.1481C> T (p.Thr494Met)single nucleotide variantPathogenicrs45471299GRCh37Chr 11, 2185569: 2185569
4THNM_199292.2(TH): c.698G> A (p.Arg233His)single nucleotide variantPathogenicrs80338892GRCh37Chr 11, 2189135: 2189135
5THNM_199292.2(TH): c.1010G> A (p.Arg337His)single nucleotide variantPathogenicrs28934580GRCh37Chr 11, 2187923: 2187923
6THNM_199292.2(TH): c.826A> C (p.Thr276Pro)single nucleotide variantPathogenicrs28934581GRCh37Chr 11, 2188225: 2188225
7THNM_199292.2(TH): c.941C> T (p.Thr314Met)single nucleotide variantPathogenicrs121917764GRCh37Chr 11, 2187992: 2187992
8THNM_199292.2(TH): c.1076G> T (p.Cys359Phe)single nucleotide variantPathogenicrs121917765GRCh37Chr 11, 2187774: 2187774

Expression for genes affiliated with Tyrosine Hydroxylase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tyrosine Hydroxylase Deficiency

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Pathways for genes affiliated with Tyrosine Hydroxylase Deficiency

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Compounds for genes affiliated with Tyrosine Hydroxylase Deficiency

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
16-pyruvoyltetrahydropterin469.5GCH1, TH
24a-hydroxytetrahydrobiopterin46 2510.5GCH1, TH
3dihydrobiopterin46 2510.5TH, GCH1
4dihydropteridine46 2510.4TH, GCH1
5pteridine469.4GCH1, TH
6sepiapterin46 2510.4TH, GCH1
7l-amino acid469.4GCH1, TH
8tetrahydrobiopterin46 25 1211.4GCH1, TH
9mptp469.4TH, GCH1
10levodopa46 1210.4GCH1, TH
11catecholamine469.4TH, GCH1
12phenylalanine469.3GCH1, TH
13epinephrine46 25 1211.3GCH1, TH
14norepinephrine46 25 1211.3TH, GCH1
15gtp46 3010.2GCH1, TH
16dopamine46 30 25 1212.2TH, GCH1
17h2o2469.1GCH1, TH
18estrogen469.1GCH1, TH
19Water259.0GCH1, TH
20oxygen46 259.8GCH1, TH

GO Terms for genes affiliated with Tyrosine Hydroxylase Deficiency

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17Gene Ontology
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Cellular components related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442819.1GCH1, TH
2dopamine biosynthetic processGO:0424169.0GCH1, TH
3response to lipopolysaccharideGO:0324968.8GCH1, TH

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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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