|
Symbol Name ID |
Gch1
GTP cyclohydrolase 1 MGI:95675 |
| Darker colors indicate more annotations |
| Human Phenotypes | Torticollis |
Increased CSF phenylalanine concentration |
Decreased CSF homovanillic acid concentration |
Stroke |
Ischemic stroke |
Dysphagia |
Abnormality of the nervous system |
Abnormal substantia nigra morphology |
Ataxia |
Gait ataxia |
Abnormality of extrapyramidal motor function |
Bradykinesia |
Parkinsonism |
Choreoathetosis |
Tremor |
Postural tremor |
Babinski sign |
Depression |
Irritability |
Anxiety |
Lethargy |
Compulsive behaviors |
Progressive neurologic deterioration |
Intellectual disability, progressive |
Sleep abnormality |
Brisk reflexes |
Lower limb hyperreflexia |
Dystonia |
Focal dystonia |
Generalized dystonia |
Limb dystonia |
Hyperkinetic movements |
Global developmental delay |
Seizure |
Impaired vibration sensation in the lower limbs |
| Disease(s) Associated with GCH1 | |||||||||||||||||||||||||||||||||||
| BH4-deficient hyperphenylalaninemia B | |||||||||||||||||||||||||||||||||||
| cerebral infarction | |||||||||||||||||||||||||||||||||||
| dystonia 5 | |||||||||||||||||||||||||||||||||||
| sickle cell anemia |
| Mouse Phenotypes | abnormal brain morphology |
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| Availability | Mouse Genotype | |
| Gch1em1Ypt/Gch1em1Ypt | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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