Pyle Disease

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OMIM 57 265900 Disease Ontology 12 DOID:0080019 Orphanet 59 ORPHA3005 UMLS via Orphanet 74 C0265294 MESH via Orphanet 45 C536252 ICD10 via Orphanet 34 Q78.5

MedGen 42 C0265294 MeSH 44 D010009 ICD10 33 Q78.5 SNOMED-CT via HPO 69 258211005 109504005 22810007 80967001 5639000 26544005 111266001 64217002 57676002 299330008 27837003 more UMLS 73 C0265294

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Pyle Disease, also known as metaphyseal dysplasia, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and metaphyseal chondrodysplasia, schmid type. An important gene associated with Pyle Disease is SFRP4 (Secreted Frizzled Related Protein 4), and among its related pathways/superpathways are Endochondral Ossification and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, cortex and eye, and related phenotypes are genu valgum and muscle weakness

OMIM : ⁵⁷ 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 : ⁷⁵ Pyle disease: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures.

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.

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

Clinical features from OMIM:

265900

Search NIH Clinical Center for Pyle Disease

Search GEO for disease gene expression data for Pyle Disease.