pcyt1a Phenotypes

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Phenotypes

Gene Literature (24)

Nucleotides (155)

Interactants (198)

XB-GENEPAGE-1001243

Gene Symbol: pcyt1a Gene Name: phosphate cytidylyltransferase 1A, choline

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (60 sources): Abnormal electroretinogram, Abnormal rib morphology, Abnormality of macular pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Astigmatism, Bowing of the long bones, Brachydactyly, Cataract, Color vision defect, Cone/cone-rod dystrophy, Coxa vara, Cupped ribs, Decreased hip abduction, Dental malocclusion, Encephalocele, Failure to thrive, Femoral bowing, Global developmental delay, Growth delay, Hearing impairment, Hemiplegia/hemiparesis, High hypermetropia, Hyperlordosis, Hypoplastic inferior ilia, Hypotonia, Intellectual disability, Iris hypopigmentation, Joint stiffness, Keratoconus, Large central visual field defect, Limited elbow movement, Metaphyseal cupping, Metaphyseal irregularity, Metaphyseal widening, Myopia, Narrow greater sciatic notch, Nyctalopia, Nystagmus, Ovoid vertebral bodies, Peripheral visual field loss, Photophobia, Platyspondyly, Progressive visual loss, Recurrent otitis media, Reduced ejection fraction, Rhizomelia, Scoliosis, Seizure, Severe platyspondyly, Severe short stature, Severely reduced visual acuity, Short finger, Short metacarpal, Short palm, Spondylometaphyseal dysplasia, Tibial bowing, Visual loss [+]
Mouse (21 sources): abnormal immune cell physiology, abnormal lung saccule morphology, abnormal lung vasculature morphology, abnormal macrophage physiology, abnormal preimplantation embryo development, abnormal pulmonary alveolar sac morphology, abnormal pulmonary alveolus wall morphology, abnormal surfactant composition, abnormal surfactant secretion, abnormal type II pneumocyte morphology, absent blastocoele, decreased alveolar lamellar body number, decreased type II pneumocyte number, embryonic growth arrest, embryonic lethality before implantation, complete penetrance, failure of embryo implantation, increased triglyceride level, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, pulmonary hyaline membrane formation, pulmonary vascular congestion [+]
View all ortholog results at Monarch