eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tyrosine hydroxylase deficiency | ||||
| Disease ID | 1879 |
|---|---|
| Disease | tyrosine hydroxylase deficiency |
| Definition | Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. |
| Synonym | autosomal recessive dopa responsive dystonia autosomal recessive dopa responsive dystonia (disorder) autosomal recessive infantile parkinsonism autosomal recessive segawa syndrome dopa responsive dystonia, autosomal recessive dopa-responsive dystonia, autosomal recessive dystonia, dopa responsive, autosomal recessive dystonia, dopa-responsive, autosomal recessive dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive (disorder) parkinsonism, infantile, autosomal recessive segawa syndrome, autosomal recessive th-deficient drd tyrosine hydroxylase deficient dopa responsive dystonia |
| Orphanet | |
| OMIM | |
| UMLS | C2673535 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1879 |
|---|---|
| Disease | tyrosine hydroxylase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) HP:0001332 | Dystonia | 1 HP:0002375 | Decreased spontaneous movement | 1 HP:0001336 | Myoclonic jerks | 1 |
| Disease ID | 1879 |
|---|---|
| Disease | tyrosine hydroxylase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0242422 | parkinsonism |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894434 | NA | 2643 | GCH1 | umls:C2673535 | CLINVAR | NA | 0.120542884 | NA | GCH1 | 14 | 54844108 | A | G |
| rs104894435 | NA | 2643 | GCH1 | umls:C2673535 | CLINVAR | NA | 0.120542884 | NA | GCH1 | 14 | 54902341 | C | T |
| rs104894442 | NA | 2643 | GCH1 | umls:C2673535 | CLINVAR | NA | 0.120542884 | NA | GCH1 | 14 | 54844023 | C | G |
| rs137852633 | NA | 2643 | GCH1 | umls:C2673535 | CLINVAR | NA | 0.120542884 | NA | GCH1 | 14 | 54845799 | G | C |
| rs28934580 | 24753243 | 7054 | TH | umls:C2673535 | UNIPROT | Until 2014, approximately 70 THD patients with a total of 40 different disease-related missense mutations, five nonsense mutations, and three mutations in the promoter region of the tyrosine hydroxylase (TH) gene have been reported. | 0.360814326 | 2014 | TH | 11 | 2166693 | C | T |
| rs28934581 | 24753243 | 7054 | TH | umls:C2673535 | UNIPROT | Until 2014, approximately 70 THD patients with a total of 40 different disease-related missense mutations, five nonsense mutations, and three mutations in the promoter region of the tyrosine hydroxylase (TH) gene have been reported. | 0.360814326 | 2014 | TH | 11 | 2166995 | T | G |
| rs41298442 | NA | 2643 | GCH1 | umls:C2673535 | CLINVAR | NA | 0.120542884 | NA | GCH1 | 14 | 54844099 | T | C |
| rs45471299 | 24753243 | 7054 | TH | umls:C2673535 | UNIPROT | Until 2014, approximately 70 THD patients with a total of 40 different disease-related missense mutations, five nonsense mutations, and three mutations in the promoter region of the tyrosine hydroxylase (TH) gene have been reported. | 0.360814326 | 2014 | TH | 11 | 2164339 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1879 |
|---|---|
| Disease | tyrosine hydroxylase deficiency |
| Case | (Waiting for update.) |