pnpla1 Phenotypes

Phenotypes

XB-GENEPAGE-6464188

Gene Symbol: pnpla1 Gene Name: patatin like phospholipase domain containing 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (15 sources): Abnormal nail morphology, Congenital ichthyosiform erythroderma, Corneal erosion, Ectropion, Erythroderma, Failure to thrive, Hearing impairment, Hypergranulosis, Hypohidrosis, Ichthyosis, Keratitis, obsolete Hypotrichosis, Palmoplantar keratoderma, Pruritus, Short stature [+]
Mouse (30 sources): abnormal ceramide level, abnormal epidermal lamellar body morphology, abnormal epidermis stratum corneum morphology, abnormal free fatty acids level, abnormal keratohyalin granule morphology, abnormal motor capabilities/coordination/movement, abnormal skin development, abnormal sphingomyelin level, abnormal stratum corneum lipid matrix formation, abnormal tail tip morphology, absent gastric milk in neonates, acanthosis, decreased birth weight, decreased embryo size, decreased embryo weight, decreased fatty acids level, decreased keratohyalin granule number, decreased keratohyalin granule size, decreased locomotor activity, epidermal desquamation, epidermal hyperplasia, impaired skin barrier function, impaired stratum corneum desquamation, increased body length, increased cholesterol level, increased triglyceride level, neonatal lethality, complete penetrance, postnatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, shiny skin [+]
View all ortholog results at Monarch