MCID: TYR005
MIFTS: 30

Tyrosine Hydroxylase Deficiency malady

Genetic diseases (common) category
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Summaries for Tyrosine Hydroxylase Deficiency

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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 based summary: Tyrosine Hydroxylase Deficiency, also known as autosomal recessive infantile parkinsonism, is related to 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. Affiliated tissues include brain.

Wikipedia:65 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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Tyrosine Hydroxylase Deficiency, Aliases & Descriptions:

Name: Tyrosine Hydroxylase Deficiency 19 20 21
Autosomal Recessive Infantile Parkinsonism 21 62
Segawa Syndrome, Autosomal Recessive 21 62
 
Th-Deficient Drd 21 62
Th Deficiency 21


Classifications:

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


Related Diseases for Tyrosine Hydroxylase Deficiency

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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
2segawa syndrome, recessive10.4
3segawa syndrome, autosomal recessive10.4
4tyrosine hydroxylase-deficient dopa-responsive dystonia10.4
5myoclonus-dystonia10.2
6infantile parkinsonism-dystonia10.2
7myoclonus10.2
8gtp cyclohydrolase i deficiency10.0TH, GCH1
9hyperphenylalaninemia9.9GCH1, TH
10movement disease9.9TH, GCH1
11parkinson's disease9.9GCH1, TH
12bipolar disorder9.8TH, GCH1
13pheochromocytoma9.8GCH1, 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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Drug clinical trials:

Search ClinicalTrials for Tyrosine Hydroxylase Deficiency

Search NIH Clinical Center for Tyrosine Hydroxylase Deficiency

Genetic Tests for Tyrosine Hydroxylase Deficiency

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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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MalaCards organs/tissues related to Tyrosine Hydroxylase Deficiency:

32
Brain

Animal Models for Tyrosine Hydroxylase Deficiency or affiliated genes

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Publications for Tyrosine Hydroxylase Deficiency

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Articles related to Tyrosine Hydroxylase Deficiency:

(show all 23)
idTitleAuthorsYear
1
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. (23389938)
2013
2
Tyrosine hydroxylase deficiency in Taiwanese infants. (22264700)
2012
3
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency. (22691284)
2012
4
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. (22815559)
2012
5
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. (20823027)
2011
6
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (20430833)
2010
7
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. (20198643)
2010
8
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (20056467)
2010
9
Tyrosine hydroxylase deficiency with severe clinical course. (19282209)
2009
10
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. (18058633)
2007
11
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. (16049992)
2005
12
Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency. (14705130)
2004
13
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. (15505183)
2004
14
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. (12891655)
2003
15
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. (11921123)
2002
16
L-dopa and selegiline for tyrosine hydroxylase deficiency. (11241071)
2001
17
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. (11196107)
2000
18
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. (11134401)
2000
19
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. (10753262)
2000
20
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). (10407773)
1999
21
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (10585338)
1999
22
Biochemical hallmarks of tyrosine hydroxylase deficiency. (9732974)
1998
23
Tyrosine Hydroxylase Deficiency (20301610)
1993

Variations for Tyrosine Hydroxylase Deficiency

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Clinvar genetic disease variations for Tyrosine Hydroxylase Deficiency:

6
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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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
See all sources

Compounds related to Tyrosine Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
16-pyruvoyltetrahydropterin449.5GCH1, TH
24a-hydroxytetrahydrobiopterin44 2410.5GCH1, TH
3dihydrobiopterin44 2410.5TH, GCH1
4dihydropteridine44 2410.4TH, GCH1
5pteridine449.4GCH1, TH
6sepiapterin44 2410.4TH, GCH1
7l-amino acid449.4GCH1, TH
8tetrahydrobiopterin44 24 1111.4GCH1, TH
9mptp449.4TH, GCH1
10levodopa44 1110.4GCH1, TH
11catecholamine449.4TH, GCH1
12phenylalanine449.3GCH1, TH
13epinephrine44 24 1111.3GCH1, TH
14norepinephrine44 24 1111.3TH, GCH1
15gtp44 2810.2GCH1, TH
16dopamine44 28 24 1112.2TH, GCH1
17h2o2449.1GCH1, TH
18estrogen449.1GCH1, TH
19Water249.0GCH1, TH
20oxygen44 249.8GCH1, TH

GO Terms for genes affiliated with Tyrosine Hydroxylase Deficiency

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet