|
Symbol Name ID |
Pdha1
pyruvate dehydrogenase E1 alpha 1 MGI:97532 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Drooling |
Abnormal CSF pyruvate family amino acid concentration |
Increased CSF lactate |
Dysphagia |
Oculomotor apraxia |
Spastic paraplegia |
Spastic tetraplegia |
Abnormality of the nervous system |
Gliosis |
Basal ganglia gliosis |
Cerebellar gliosis |
Abnormal brain morphology |
Lateral ventricle dilatation |
Subependymal cysts |
Ventriculomegaly |
Polymicrogyria |
Basal ganglia cysts |
Basal ganglia necrosis |
Agenesis of corpus callosum |
Partial agenesis of the corpus callosum |
Hypoplasia of the corpus callosum |
Periventricular leukomalacia |
Cerebral atrophy |
Cerebellar cyst |
Intracranial cystic lesion |
Ataxia |
Episodic ataxia |
Gait ataxia |
Poor fine motor coordination |
Poor gross motor coordination |
Choreoathetosis |
Myoclonus |
Tremor |
EEG with focal sharp waves |
EEG with focal spikes |
EEG with generalized sharp slow waves |
Hypsarrhythmia |
Poor speech |
Lethargy |
Intellectual disability |
Intellectual disability, mild |
Intellectual disability, profound |
Drowsiness |
Jerky head movements |
Hyperreflexia |
Brisk reflexes |
Hyporeflexia |
Dystonia |
Generalized dystonia |
Paroxysmal dystonia |
Inability to walk |
Unsteady gait |
Global developmental delay |
Motor delay |
Delayed gross motor development |
Persistent head lag |
Seizure |
Bilateral tonic-clonic seizure |
Infantile spasms |
| Disease(s) Associated with PDHA1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pyruvate decarboxylase deficiency |
| Mouse Phenotypes | decreased brain weight |
abnormal brain white matter morphology |
decreased corpus callosum size |
abnormal cerebellar peduncle morphology |
abnormal putamen morphology |
decreased stria medullaris size |
abnormal thalamus morphology |
abnormal paraventricular thalamic nucleus morphology |
abnormal cerebral cortex pyramidal cell morphology |
abnormal neocortex morphology |
abnormal olfactory tract morphology |
decreased Purkinje cell number |
abnormal cerebellar granule layer morphology |
abnormal cerebellar molecular layer |
abnormal cerebellum deep nucleus morphology |
small cerebellum |
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| Availability | Mouse Genotype | ||||||||||||||||
| Pdha1tm1Ptl/Pdha1tm1Ptl Tg(Nes-cre)1Kln/0 (conditional) |
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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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