ppp3ca Phenotypes

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Phenotypes

Gene Literature (78)

Nucleotides (272)

Interactants (728)

XB-GENEPAGE-952298

Gene Symbol: ppp3ca Gene Name: protein phosphatase 3, catalytic subunit, alpha isozyme

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (66 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Absent speech, Arthrogryposis multiplex congenita, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Brachydactyly, Brain atrophy, Cerebral atrophy, Cerebral visual impairment, Cleft palate, Craniosynostosis, Decreased body weight, Decreased fetal movement, Delayed myelination, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hydronephrosis, Hypertelorism, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Micrognathia, Multifocal epileptiform discharges, Myoclonus, Nystagmus, Optic atrophy, Plagiocephaly, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Talipes equinovarus, Thin ribs, Tremor, Trigonocephaly, Unsteady gait, Vesicoureteral reflux [+]
Mouse (20 sources): abnormal hippocampal mossy fiber morphology, abnormal skeletal muscle fiber type ratio, abnormal urine osmolality, cardiac hypertrophy, cardiac interstitial fibrosis, decreased T cell proliferation, decreased circulating glucose level, decreased interferon-gamma secretion, decreased interleukin-2 secretion, decreased interleukin-4 secretion, decreased skeletal muscle fiber number, decreased urine creatinine level, decreased urine osmolality, dilated heart left ventricle, enlarged myocardial fiber, increased circulating creatinine level, increased heart weight, increased skeletal muscle fiber diameter, myocardial fiber disarray, premature death [+]
View all ortholog results at Monarch