aars1 Phenotypes

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Phenotypes

Gene Literature (4)

Nucleotides (234)

Interactants (18)

XB-GENEPAGE-963522

Gene Symbol: aars1 Gene Name: alanyl-tRNA synthetase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (69 sources): Abnormal corpus callosum morphology, Abnormal foot morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Areflexia, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Blepharospasm, Brain atrophy, CNS hypomyelination, Cerebral atrophy, Chorea, Decreased fetal movement, Decreased motor nerve conduction velocity, Delayed speech and language development, Developmental regression, Difficulty walking, Distal muscle weakness, Distal sensory impairment, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Foot dorsiflexor weakness, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hammertoe, High forehead, Hip dislocation, Hypodontia, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intrauterine growth retardation, Involuntary movements, Limb hypertonia, Limb muscle weakness, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (20 sources): Purkinje cell degeneration, abnormal autophagy, abnormal myocardial fiber morphology, abnormal myocardial fiber physiology, abnormal sarcoplasmic reticulum morphology, cardiac fibrosis, cardiac interstitial fibrosis, decreased body size, decreased cardiac output, decreased ventricle muscle contractility, disheveled coat, embryonic lethality prior to organogenesis, focal hair loss, hair follicle degeneration, hair follicle outer root sheath hyperplasia, impaired balance, myocardial fiber disarray, nervous system phenotype, small heart, thin ventricular wall [+]
View all ortholog results at Monarch