vps13a Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (149)

Interactants (18)

XB-GENEPAGE-989612

Gene Symbol: vps13a Gene Name: vacuolar protein sorting 13 homolog A

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (81 sources): Abdominal pain, Abnormal bleeding, Abnormal erythrocyte morphology, Abnormal foot morphology, Abnormal urinary color, Abnormality of eye movement, Abnormality of movement, Abnormality of the orbital region, Abnormality of the thyroid gland, Abnormality of urine homeostasis, Abnormality of vision, Acanthocytosis, Acute hepatic failure, Aggressive behavior, Anxiety, Areflexia, Ascites, Ataxia, Attention deficit hyperactivity disorder, Behavioral abnormality, Cataract, Caudate atrophy, Cerebral cortical atrophy, Chorea, Dementia, Developmental regression, Difficulty in tongue movements, Disinhibition, Distal upper limb muscle weakness, Drooling, Dysarthria, Dysgraphia, Dyskinesia, Dysphagia, Dystonia, EMG abnormality, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Fatigue, Feeding difficulties, Gait disturbance, Hepatomegaly, Hypertrophic cardiomyopathy, Hyporeflexia, Hypotonia, Limb muscle weakness, Lymphadenopathy, Malabsorption, Memory impairment, Muscle fiber atrophy, Muscle weakness, Myopathy, Nausea and vomiting, Neurological speech impairment, Nystagmus, Orofacial dyskinesia, Pallor, Parkinsonism, Peripheral neuropathy, Personality changes, Pes cavus, Progressive choreoathetosis, Progressive distal muscular atrophy, Protruding tongue, Psychosis, Recurrent respiratory infections, Seizure, Self-injurious behavior, Self-mutilation of tongue and lips due to involuntary movements, Sensory neuropathy, Sepsis, Short stature, Skeletal muscle atrophy, Sleep disturbance, Splenomegaly, Tics, Tremor, Vasculitis, Ventriculomegaly, Weight loss, obsolete Mood changes [+]
Mouse (17 sources): abnormal bone mineralization, abnormal social investigation, abnormal sperm mitochondrial sheath morphology, abnormal synaptic neurotransmitter level, asthenozoospermia, decreased T-helper cell number, decreased bone mineral content, decreased locomotor activity, decreased plasmacytoid dendritic cell number, decreased red blood cell distribution width, decreased striatum size, increased circulating alkaline phosphatase level, increased erythrocyte osmotic fragility, increased total body fat amount, loss of basal ganglia neurons, reproductive system phenotype, short stride length [+]
View all ortholog results at Monarch