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Camurati-Engelmann Syndrome (Camurati-Engelmann Disease)

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Also Known As:
Camurati-Engelmann Disease; Engelmann Disease; Camurati Engelmann Disease; Camurati Engelmann Syndrome; Diaphyseal Dysplasias, Progressive; Dysplasia, Progressive Diaphyseal; Dysplasias, Progressive Diaphyseal; Diaphyseal Dysplasia, Progressive; Engelmann's Disease
Networked: 47 relevant articles (4 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Pain (Aches)
2. Hyperostosis
3. Marfan Syndrome (Marfan's Syndrome)
4. Osteopetrosis
5. Pycnodysostosis

Experts

1. Makita, Y: 3 articles (08/2001 - 03/2000)
2. Guise, Theresa A: 2 articles (11/2015 - 12/2013)
3. Mohammad, Khalid S: 2 articles (11/2015 - 12/2013)
4. Azhar, Mohamad: 2 articles (12/2013 - 06/2009)
5. Van Hul, W: 2 articles (07/2013 - 11/2000)
6. Ikegawa, Shiro: 2 articles (10/2007 - 01/2002)
7. Van Hul, Wim: 2 articles (10/2003 - 02/2003)
8. Janssens, Katrien: 2 articles (10/2003 - 02/2003)
9. Trivedi, Trupti: 1 article (11/2015)
10. Xie, Wenjun: 1 article (11/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Camurati-Engelmann Syndrome:
1. Losartan (Cozaar)FDA LinkGeneric
2. Alendronate (Alendronate Sodium)FDA LinkGeneric
3. Transforming Growth Factor beta1 (TGF beta 1)IBA
4. Transforming Growth Factor beta (TGF-beta)IBA
12/01/2013 - "Dysregulated transforming growth factor beta (TGF-β) signaling is associated with a spectrum of osseous defects as seen in Loeys-Dietz syndrome, Marfan syndrome, and Camurati-Engelmann disease. "
05/01/2011 - "Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand."
02/28/2003 - "Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein."
01/01/2002 - "We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20]. "
12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
5. Adrenal Cortex Hormones (Corticosteroids)IBA
6. Ribbing diseaseIBA
7. Transforming Growth Factors (Transforming Growth Factor)IBA
8. SclerosteosisIBA
9. Schwartz-Lelek syndromeIBA
07/01/2013 - "Examples are Van Buchem disease, sclerosteosis, craniometaphyseal dysplasia, and Camurati-Engelmann disease. "
01/01/1991 - "The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. "
12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
10. pamidronate (APD)FDA LinkGeneric

Therapies and Procedures

1. Decompression
2. Craniotomy
3. Aftercare (After-Treatment)
4. Cochlear Implantation
5. Cesarean Section (Caesarean Section)