Details of Disease

General Information of Disease (ID: DISJ2YQ3)

Disease Name Pyle disease
Synonyms
metaphyseal dysplasia Pyle type; Pyl; metaphyseal dysplasia; chondrodysplasia calcificans metaphysealis; Pyle's disease; metaphyseal dysplasia, Pyle type; Pyle disease; Bakwin-Krida syndrome; Pyle's syndrome; Pyle-Cohn syndrome
Definition
A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS5Z8U6: Skeletal dysplasia
DISJ2YQ3: Pyle disease
Disease Identifiers
MONDO ID
MONDO_0009943
MESH ID
C536252
UMLS CUI
C0265294
OMIM ID
265900
MedGen ID
82704
Orphanet ID
3005
SNOMED CT ID
27837003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RUNX2 TTD6SZ8 Strong Genetic Variation [1]
SFRP4 TTX8I1Y Strong Autosomal recessive [2]
SFRP4 TTX8I1Y Strong Genetic Variation [3]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RSPRY1 OT9MVWO0 Limited Biomarker [4]
ANKH OTCN25R5 Strong Genetic Variation [5]
CFAP410 OTJ94J99 Strong Genetic Variation [6]
EXTL3 OT2BRUBN Strong Genetic Variation [7]
PAPSS2 OTDLEXPN Strong Genetic Variation [8]
SFRP4 OT8PQUVB Strong Autosomal recessive [2]
COL10A1 OTC4G2YC Definitive Biomarker [9]
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⏷ Show the Full List of 7 DOT(s)

References

1 A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.
2 Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342.
3 Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption.Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):14138-14143. doi: 10.1073/pnas.1900881116. Epub 2019 Jun 25.
4 Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.
5 The role of ANKH in pathologic mineralization of cartilage.Curr Opin Rheumatol. 2016 Mar;28(2):145-51. doi: 10.1097/BOR.0000000000000247.
6 Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.
7 Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.J Hum Genet. 2017 Aug;62(8):797-801. doi: 10.1038/jhg.2017.38. Epub 2017 Mar 23.
8 PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.
9 Spondylar dysplasia in type X collagenopathy.Pediatr Radiol. 2001 Feb;31(2):76-80. doi: 10.1007/s002470000394.