PYL
MCID: PYL017
MIFTS: 37
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Pyle Disease (PYL)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Pyle Disease:
Characteristics:Orphanet epidemiological data:58
pyle disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
homozygous patients reported no joint pain or muscle weakness clinically asymptomatic heterozygous carriers may exhibit mild radiographic changes HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
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, pyle type, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly. An important gene associated with Pyle Disease is SFRP4 (Secreted Frizzled Related Protein 4). Affiliated tissues include bone, cortex and eye, and related phenotypes are delayed eruption of teeth and scoliosis GARD : 20 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® : 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) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 Pyle disease: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. |
Human phenotypes related to Pyle Disease:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:265900 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Pyle Disease:46
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MalaCards organs/tissues related to Pyle Disease:40
Bone,
Cortex,
Eye,
Brain
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Articles related to Pyle Disease:(show all 21)
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ClinVar genetic disease variations for Pyle Disease:6
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Cellular components related to Pyle Disease according to GeneCards Suite gene sharing:
Biological processes related to Pyle Disease according to GeneCards Suite gene sharing:
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