Pyle Disease (PYL)

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Disease Ontology 12 DOID:0080019 OMIM 56 265900 MeSH 43 D010009 ICD10 32 Q78.5 MESH via Orphanet 44 C536252 ICD10 via Orphanet 33 Q78.5

UMLS via Orphanet 72 C0265294 Orphanet 58 ORPHA3005 MedGen 41 C0265294 SNOMED-CT via HPO 68 109504005 111266001 22810007 258211005 26544005 27837003 299330008 5639000 57676002 64217002 80967001 more UMLS 71 C0265294

Genetics Home Reference : ²⁵ Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals. Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).

MalaCards based summary : Pyle Disease, also known as metaphyseal dysplasia, is related to cartilage-hair hypoplasia and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Pyle Disease is SFRP4 (Secreted Frizzled Related Protein 4), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. Affiliated tissues include bone, cortex and brain, and related phenotypes are delayed eruption of teeth and genu valgum

Disease Ontology : ¹² An osteochondrodysplasia that results in thinning and the tendency to fracture located in bone.

NIH Rare Diseases : ⁵² Pyle disease is a bone disorder characterized by knock knees (genu valgum ), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity ), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer of bone. Other findings may include excessive bone formation of the skull. Pyle disease is caused by mutations in the SFRP4 gene and is inherited in an autosomal recessive manner. Treatment may include management of resulting bone fractures and other orthopedic concerns.

OMIM : ⁵⁶ Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016). (265900)

UniProtKB/Swiss-Prot : ⁷³ Pyle disease: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures.

Clinical features from OMIM:

265900

Search Clinical Trials , NIH Clinical Center for Pyle Disease

Search GEO for disease gene expression data for Pyle Disease.