plekhm1 Phenotypes

Phenotypes

XB-GENEPAGE-6033728

Gene Symbol: plekhm1 Gene Name: pleckstrin homology and RUN domain containing M1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (28 sources): Abnormality of bone mineral density, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the nervous system, Agenesis of permanent teeth, Anemia, Back pain, Chronic infection, Cortical sclerosis, Cranial nerve compression, Dense metaphyseal bands, Dental malocclusion, Elevated circulating alkaline phosphatase concentration, Erlenmeyer flask deformity of the femurs, Generalized osteosclerosis, Hepatomegaly, Hepatosplenomegaly, Increased susceptibility to fractures, Optic atrophy from cranial nerve compression, Osteomyelitis, Osteopenia, Osteopetrosis, Osteosclerosis of the base of the skull, Recurrent fractures, Sandwich appearance of vertebral bodies, Splenomegaly, Thickened calvaria, Visual impairment [+]
Mouse (14 sources): abnormal lysosome morphology, abnormal osteoclast morphology, abnormal osteoclast physiology, decreased bone mineralization, decreased bone ossification, decreased bone trabecular spacing, decreased lysosomal enzyme secretion, decreased osteoblast cell number, decreased prepulse inhibition, increased bone mineral content, increased bone trabecula number, increased trabecular bone mass, increased trabecular bone volume, no abnormal phenotype detected [+]
View all ortholog results at Monarch