|
Symbol Name ID |
Atp13a2
ATPase type 13A2 MGI:1922022 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial myokymia |
Anosmia |
Hyposmia |
Blepharospasm |
Eyelid apraxia |
Torticollis |
Dysphagia |
Spasticity |
Spastic paraplegia |
Progressive spastic paraplegia |
Spastic tetraplegia |
Progressive spastic quadriplegia |
Difficulty walking |
Peripheral axonal neuropathy |
Sensory axonal neuropathy |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Abnormal periventricular white matter morphology |
Cerebellar atrophy |
Ataxia |
Gait ataxia |
Progressive gait ataxia |
Progressive cerebellar ataxia |
Bradykinesia |
Parkinsonism |
Parkinsonism with favorable response to dopaminergic medication |
Progressive extrapyramidal movement disorder |
Myoclonus |
Tremor |
Resting tremor |
Upper motor neuron dysfunction |
Abnormal pyramidal sign |
Babinski sign |
Paraparesis |
Abnormality of mental function |
Anarthria |
Dysarthria |
Depression |
Anxiety |
Panic attack |
Psychotic episodes |
Hallucinations |
Visual hallucination |
Apathy |
Lethargy |
Reduced social reciprocity |
Aggressive behavior |
Impulsivity |
Agitation |
Restless legs |
Cognitive impairment |
Confusion |
Mental deterioration |
Dementia |
Frontal lobe dementia |
Short attention span |
Intellectual disability, mild |
Insomnia |
Hyperreflexia |
Brisk reflexes |
Hyperreflexia in upper limbs |
Lower limb hyperreflexia |
Hyperactive patellar reflex |
Palmomental reflex |
Akinesia |
Hypokinesia |
Dyskinesia |
Dystonia |
Lingual dystonia |
Oculogyric crisis |
Gait disturbance |
Falls |
Gait imbalance |
Postural instability |
Stooped posture |
Seizure |
Impaired tactile sensation |
Distal sensory impairment |
Impaired vibratory sensation |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with ATP13A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hereditary spastic paraplegia 78 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kufor-Rakeb syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson's disease |
| Mouse Phenotypes | nervous system phenotype |
astrocytosis |
gliosis |
abnormal neuron morphology |
alpha-synuclein inclusion body |
|
| Availability | Mouse Genotype | |||||
| Atp13a2tm1.2Wtd/Atp13a2tm1.2Wtd | ||||||
| Atp13a2tm1Pjsch/Atp13a2tm1Pjsch | * | |||||
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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