|
Symbol Name ID |
Vps13a
vacuolar protein sorting 13A MGI:2444304 |
| Darker colors indicate more annotations |
| Human Phenotypes | Drooling |
Blepharospasm |
Absent Achilles reflex |
Dysphagia |
Frequent falls |
Decreased number of peripheral myelinated nerve fibers |
Peripheral axonal neuropathy |
Lateral ventricle dilatation |
Cerebral cortical atrophy |
Frontal cortical atrophy |
Caudate atrophy |
Abnormal putamen morphology |
Small basal ganglia |
Abnormal hippocampus morphology |
Hypoplastic hippocampus |
Iron accumulation in brain |
Poor motor coordination |
Slurred speech |
Bradykinesia |
Parkinsonism |
Progressive choreoathetosis |
Chorea |
Involuntary movements |
Self-mutilation of tongue and lips due to involuntary movements |
Head titubation |
Resting tremor |
Decreased amplitude of sensory action potentials |
Phonic tics |
Dysarthria |
Depression |
Emotional lability |
Irritability |
Paranoia |
Anxiety |
Psychosis |
Atypical behavior |
Apathy |
Self-neglect |
Socially inappropriate behavior |
Personality changes |
Aggressive behavior |
Compulsive behaviors |
Tics |
Motor tics |
Disinhibition |
Hyperactivity |
Bruxism |
Head-banging |
Self-injurious behavior |
Hair-pulling |
Bradyphrenia |
Mental deterioration |
Dementia |
Short attention span |
Micrographia |
Sleep abnormality |
Abnormality of movement |
Reduced tendon reflexes |
Areflexia |
Hyporeflexia |
Orofacial dyskinesia |
Dystonia |
Lingual dystonia |
Oromandibular dystonia |
Laryngeal dystonia |
Limb dystonia |
Gait disturbance |
Falls |
Loss of ambulation |
Hyperkinetic movements |
Motor delay |
Sensory neuropathy |
Seizure |
Bilateral tonic-clonic seizure |
Impaired vibratory sensation |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with VPS13A | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| choreaacanthocytosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| choreatic disease |
| Mouse Phenotypes | decreased striatum size |
loss of basal ganglia neurons |
gliosis |
abnormal synaptic neurotransmitter level |
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| Availability | Mouse Genotype | ||||
| Vps13atm1Asan/Vps13atm1Asan | |||||
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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