MCID: TYR008
MIFTS: 9

Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Categories: Genetic diseases

Aliases & Classifications for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

MalaCards integrated aliases for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia:

Name: Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 24
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive 69
Segawa Syndrome, Autosomal Recessive 24
Tyrosine Hydroxylase Deficient Drd 24
Th Deficient Drd 24

Classifications:



Summaries for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

MalaCards based summary : Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia, also known as dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive, is related to segawa syndrome, recessive and tyrosine hydroxylase deficiency, and has symptoms including muscle rigidity, tremor and abnormality of extrapyramidal motor function. An important gene associated with Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia is TH (Tyrosine Hydroxylase).

Related Diseases for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Diseases related to Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 segawa syndrome, recessive 11.5
2 tyrosine hydroxylase deficiency 11.5

Symptoms & Phenotypes for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

UMLS symptoms related to Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia:


muscle rigidity, tremor, abnormality of extrapyramidal motor function, dystonia, limb, gait ataxia

Drugs & Therapeutics for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Search Clinical Trials , NIH Clinical Center for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Genetic Tests for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Genetic tests related to Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia:

id Genetic test Affiliating Genes
1 Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia 24 TH

Anatomical Context for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Publications for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Variations for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

ClinVar genetic disease variations for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 TH NM_199292.2(TH): c.1198-24T> A single nucleotide variant Pathogenic rs587776767 GRCh38 Chromosome 11, 2165787: 2165787
2 TH NM_199292.2(TH): c.1234C> A (p.Gln412Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121917762 GRCh37 Chromosome 11, 2186957: 2186957
3 TH NM_199292.2(TH): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121917763 GRCh37 Chromosome 11, 2189126: 2189126
4 TH NM_199292.2(TH): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic/Likely pathogenic rs45471299 GRCh37 Chromosome 11, 2185569: 2185569
5 TH NM_199292.2(TH): c.698G> A (p.Arg233His) single nucleotide variant Pathogenic rs80338892 GRCh37 Chromosome 11, 2189135: 2189135
6 TH NM_199292.2(TH): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs28934580 GRCh37 Chromosome 11, 2187923: 2187923
7 TH NM_199292.2(TH): c.826A> C (p.Thr276Pro) single nucleotide variant Pathogenic rs28934581 GRCh37 Chromosome 11, 2188225: 2188225
8 TH NM_199292.2(TH): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs121917764 GRCh37 Chromosome 11, 2187992: 2187992
9 TH TH, 1-BP DEL, 291C deletion Pathogenic
10 TH TH, -70G-A single nucleotide variant Pathogenic
11 TH NM_199292.2(TH): c.1076G> T (p.Cys359Phe) single nucleotide variant Pathogenic rs121917765 GRCh37 Chromosome 11, 2187774: 2187774
12 TH NM_000360.3(TH): c.283delG (p.Ala95Argfs) deletion Pathogenic rs797045111 GRCh38 Chromosome 11, 2169679: 2169679
13 TH NM_000360.3(TH): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs1057517423 GRCh38 Chromosome 11, 2167909: 2167909

Expression for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Search GEO for disease gene expression data for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia.

Pathways for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

GO Terms for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Sources for Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

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