Schwartz-Lelek syndrome

Also Known As:
Craniometaphyseal dysplasia; Genetic craniotubular bone dysplasias and hyperostoses
Networked: 54 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results


1. Chen, I-Ping: 3 articles (12/2013 - 03/2011)
2. Reichenberger, Ernst J: 3 articles (12/2013 - 03/2011)
3. Kornak, Uwe: 2 articles (01/2011 - 04/2010)
4. Mirza, S: 1 article (06/2015)
5. Twigg, V: 1 article (06/2015)
6. Peres, C: 1 article (06/2015)
7. Carr, S: 1 article (06/2015)
8. Dhawan, Naveen: 1 article (01/2014)
9. Vohra, Shivani: 1 article (01/2014)
10. Gupta, Vineet: 1 article (01/2014)

Related Diseases

1. Sclerosis
2. Hyperostosis
3. Osteopetrosis
4. Chondrocalcinosis (Pseudogout)
01/01/2011 - "Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. "
06/01/2009 - "Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation."
03/01/2006 - "Mutations in ANK result in two distinct calcification disorders: craniometaphyseal dysplasia and familial calcium pyrophosphate dihydrate deposition disease. "
10/01/2003 - "ANKH, the human homolog of the mutated gene in the ank/ank mouse, has been implicated in familial autosomal-dominant chondrocalcinosis and autosomal-dominant craniometaphyseal 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."
5. Nasal Obstruction

Related Drugs and Biologics

1. Pyle disease
2. Frontometaphyseal dysplasia
3. Osteoprotegerin
4. beta Catenin
5. Leptin
6. GTP-Binding Proteins (G-Protein)
7. Transforming Growth Factor beta (TGF-beta)
8. Membrane Proteins (Integral Membrane Proteins)
9. Histone Deacetylases (Histone Deacetylase)
10. Collagen

Related Therapies and Procedures

1. Diathermy
2. Decompression