Pyle disease

A hereditary disorder associated with mutations in the SFRP4 gene and characterized by long bones with wide and expanded trabecular metaphyses (wide portions of long bones between the EPIPHYSES and the DIAPHYSES), thin cortical bone, and bone fragility. Fractures through the abnormal metaphyses are common, as is GENU VALGUM. OMIM: 265900

Also Known As:

Networked: 30 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Fetal Growth Retardation (Intrauterine Growth Retardation)
2.	Osteogenesis Imperfecta (Lobstein Disease)
3.	Hypophosphatasia
4.	Achondroplasia
5.	Hypophosphatemic Rickets

Experts

1.	Mortier, Geert: 2 articles (06/2020 - 01/2007)
2.	Ikegawa, Shiro: 2 articles (04/2015 - 01/2007)
3.	Miyake, Noriko: 2 articles (04/2015 - 01/2013)
4.	Superti-Furga, Andrea: 2 articles (10/2013 - 01/2007)
5.	Anand, Rama: 1 article (07/2020)
6.	Chandra, Jagdish: 1 article (07/2020)
7.	Dhawan, Pawan: 1 article (07/2020)
8.	Gupta, Sumit: 1 article (07/2020)
9.	Kanojia, Rajesh K: 1 article (07/2020)
10.	Kumar, Ajay: 1 article (07/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pyle disease:

1.	Proteins (Proteins, Gene)FDA Link 03/01/2016 - "ANKH mutations have been reported in inherited human disorders such as familial calcium pyrophosphate deposition disease (CPPD) and cranial metaphyseal dysplasia; however, research into the function of the ANKH protein has been more challenging. " 10/01/2022 - "Biallelic variants resulting in markedly reduced amounts of normal protein have been reported in two separate recessive pediatric syndromes: facial dysmorphism, immunodeficiency, livedo, and short stature as well as intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenital, and genital anomalies. " 01/01/2020 - "With this paper, we have shown that Pyle disease may be related not only to SFRP4 truncating mutations but also to other loss-of-function alterations that possibly impair the protein capacity to bind WNT ligands. " 01/15/2007 - "The observation of these individuals with metaphyseal dysplasia indicates that the phenotypic spectrum associated with mutations in type 2 collagen, the main cartilage protein, is even wider than hitherto assumed."
2.	Matrilin ProteinsIBA 06/01/2020 - "Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)." 05/01/2004 - "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD."
3.	Collagen Type XIBA 02/01/2001 - "The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. " 07/01/1995 - "We have used the polymerase chain reaction and single strand conformation polymorphism (SSCP) methods to analyse the COL10A1 gene, which encodes collagen type X, in DNA samples from patients with metaphyseal dysplasia type Schmid (SMCD) and other related forms of metaphyseal dysplasia. "
4.	Proliferating Cell Nuclear Antigen (PCNA)IBA 01/01/2016 - "Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome and Silver-Russell syndrome (SRS). " 01/01/2015 - "Recently, our group described gain-of-function mutations in the PCNA-binding site of CDKN1C that result in an undergrowth syndrome called IMAGe Syndrome (Intrauterine Growth Restriction, Metaphyseal dysplasia, Adrenal hypoplasia, and Genital anomalies), with life-threatening consequences. "
5.	Phosphotransferases (Kinase)IBA 01/01/2022 - "LRRK1 loss of function mutations cause the bone disorder osteosclerotic metaphyseal dysplasia, whereas LRRK2 missense mutations that enhance kinase activity cause Parkinson's disease. " 08/01/2023 - "Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal-recessive disease caused by mutations in the leucine-rich repeat kinase 1 (LRRK1) gene. "
6.	CalciumIBA 11/01/1993 - "Calcium metabolism in the Jansen type of metaphyseal dysplasia." 10/01/2013 - "However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. "
7.	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 07/01/2018 - "We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years. "
8.	Parathyroid Hormone-Related ProteinIBA 10/01/2013 - "In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. "
9.	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/01/2007 - "Primary adrenal hypoplasia most commonly occurs in an X-linked form due to mutations in the nuclear receptor DAX1 (NR0B1) but can occur in a poorly understood recessive form or as part of the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia, genitourinary anomalies) syndrome. "
10.	Vitamin DFDA LinkGeneric 01/01/2011 - "Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out. "

Therapies and Procedures

1.	Renal Replacement Therapy (Therapies, Renal Replacement) 04/01/2015 - "Subsequently he also developed a retinopathy of his rods and cones, metaphyseal dysplasia, and hypertension with renal failure requiring renal replacement therapy. "
2.	Chelation Therapy (Therapy, Chelation) 07/01/2020 - "After the introduction of iron-chelation therapy, these patients were noted to develop metaphyseal abnormalities and vertebral changes resembling spondylo-metaphyseal dysplasia. "
3.	Therapeutics 01/01/2003 - "We undertook a clinical trial of growth hormone (GH) therapy for patients with skeletal dysplasia accompanying severe short stature caused by achondroplasia (ACH), hypochondroplasia (HCH), pseudoachondroplasia (PSACH), spondyloepiphyseal dysplasia congenita (SED), or Schmid type metaphyseal dysplasia (MD). "