|
Symbol Name ID |
Coasy
Coenzyme A synthase MGI:1918993 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Primary microcephaly |
Areflexia of lower limbs |
Dysphagia |
Spasticity |
Spastic paraparesis |
Spastic tetraplegia |
Difficulty walking |
Fatigable weakness of swallowing muscles |
Peripheral axonal neuropathy |
Motor axonal neuropathy |
Hypoplasia of the brainstem |
Lateral ventricle dilatation |
Hydrocephalus |
Ventriculomegaly |
Abnormal corpus striatum morphology |
Abnormal caudate nucleus morphology |
Abnormal globus pallidus morphology |
Eye of the tiger anomaly of globus pallidus |
Hypoplasia of the corpus callosum |
Cerebral hypoplasia |
Cerebral atrophy |
Abnormal thalamus morphology |
Cerebellar hypoplasia |
Central nervous system degeneration |
Neurodegeneration |
Ataxia |
Bradykinesia |
Parkinsonism |
Vocal cord paresis |
Abnormal pyramidal sign |
Delayed speech and language development |
Dysarthria |
Depression |
Atypical behavior |
Hypersexuality |
Abnormal temper tantrums |
Aggressive behavior |
Compulsive behaviors |
Motor tics |
Disinhibition |
Hyperactivity |
Hyperorality |
Cognitive impairment |
Mental deterioration |
Dementia |
Progressive neurologic deterioration |
Intellectual disability |
Intellectual disability, progressive |
Intellectual disability, severe |
Sleep abnormality |
Obstructive sleep apnea |
Abnormal postural reflex |
Hyperactive deep tendon reflexes |
Hyporeflexia |
Dystonia |
Oromandibular dystonia |
Gait disturbance |
Loss of ambulation |
Tip-toe gait |
Brain imaging abnormality |
Developmental regression |
Global developmental delay |
Motor delay |
Delayed ability to walk |
Specific learning disability |
Constrictive median neuropathy |
Seizure |
| Disease(s) Associated with COASY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| mucopolysaccharidosis III | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| neurodegeneration with brain iron accumulation 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pontocerebellar hypoplasia type 12 |
| Mouse Phenotypes | nervous system phenotype |
increased brain iron level |
decreased brain weight |
|
| Availability | Mouse Genotype | |||
| Coasytm1.1Vtr/Coasytm1.1Vtr Tg(Syn1-cre)671Jxm/0 (conditional) |
* | |||
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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