|
Symbol Name ID |
Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1 MGI:88594 |
| Darker colors indicate more annotations |
| Human Phenotypes | Ankle clonus |
Elevated CSF cholestanol concentration |
Pseudobulbar paralysis |
Hypermyelinated retinal nerve fibers |
Abnormality of visual evoked potentials |
Spasticity |
Spastic paraparesis |
Difficulty walking |
Gliosis |
CNS demyelination |
Axonal degeneration |
Abnormal cerebellar peduncle morphology |
Abnormal globus pallidus morphology |
Abnormal periventricular white matter morphology |
Hyperintensity of cerebral white matter on MRI |
Cerebral atrophy |
Abnormal cerebellum morphology |
Abnormal dentate nucleus morphology |
Cerebellar atrophy |
Global brain atrophy |
Myelopathy |
Ataxia |
Abnormality of extrapyramidal motor function |
Parkinsonism |
Palatal tremor |
Resting tremor |
Abnormal pyramidal sign |
Babinski sign |
Paraparesis |
Abnormal auditory evoked potentials |
Abnormal motor evoked potentials |
Abnormality of somatosensory evoked potentials |
Delayed somatosensory central conduction time |
EEG with generalized slow activity |
Decreased nerve conduction velocity |
Long-tract signs |
Dysarthria |
Depression |
Delusion |
Hallucinations |
Suicidal ideation |
Atypical behavior |
Autism |
Personality disorder |
Aggressive behavior |
Attention deficit hyperactivity disorder |
Agitation |
Cognitive impairment |
Dementia |
Progressive psychomotor deterioration |
Short attention span |
Intellectual disability |
Hyperreflexia |
Orofacial dyskinesia |
Dystonia |
Gait disturbance |
Elevated brain choline level by MRS |
Elevated brain lactate level by MRS |
Neurodevelopmental delay |
Specific learning disability |
Peripheral neuropathy |
Seizure |
Somatic sensory dysfunction |
| Disease(s) Associated with CYP27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cerebrotendinous xanthomatosis |
| Mouse Phenotypes | decreased brain weight |
|
| Availability | Mouse Genotype | |
| Cyp27a1tm1Elt/Cyp27a1tm1Elt | ||
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 04/23/2024 MGI 6.23 |
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