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Atelosteogenesis type 2

Also Known As:
Atelosteogenesis De La Chapelle Type; Atelosteogenesis, Type 2; Atelosteogenesis, Type II; De La Chapelle Dysplasia; McAlister Dysplasia; Neonatal Osseous Dysplasia I; Neonatal osseous dysplasia 1
Networked: 18 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Diastrophic dysplasia
2. Achondrogenesis type 1B
3. Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
4. Achondrogenesis
5. Atelosteogenesis type 2

Experts

1. Bonafé, L: 2 articles (12/2011 - 12/2008)
2. Superti-Furga, A: 2 articles (12/2011 - 12/2008)
3. Hästbacka, J: 2 articles (12/2008 - 08/2001)
4. Guion-Almeida, Maria Leine: 1 article (08/2013)
5. Moura, Priscila Padilha: 1 article (08/2013)
6. Raskin, Salmo: 1 article (08/2013)
7. Richieri-Costa, Antonio: 1 article (08/2013)
8. Zechi-Ceide, Roseli Maria: 1 article (08/2013)
9. Barbosa, M: 1 article (12/2011)
10. Fortuna, A M: 1 article (12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Atelosteogenesis type 2:
1. Sulfate TransportersIBA
2. Sulfates (Sulfates, Inorganic)IBA
07/01/2001 - "When the sulfate transport function of the different DTDST mutations are grouped according to the general phenotypes, individuals with the most severe form, ACG-1B, tend to be homozygous for null mutations, individuals with the moderately severe atelosteogenesis type 2 have at least one allele with a loss-of-function mutation, and individuals with the mildest forms are typically homozygous for mutations with residual sulfate transport function. "
11/16/1998 - "The chondro-osseous morphologic findings and the distal tapering of the humerus are somewhat reminiscent of atelosteogenesis type II, but the pattern of matrix degeneration and the presence of inclusion bodies in the chondrocytes distinguish it from disorders of sulfate transport."
05/03/1996 - "Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. In these conditions, sulfate transport across the cell membrane is impaired which results in insufficient sulfation of cartilage proteoglycans and thus in an abnormally low sulfate content of cartilage. "
07/01/2003 - "Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with a family of skeletal dysplasias including recessive multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2, and achondrogenesis type 1B (ACG1B). "
3. Proteoglycans (Proteoglycan)IBA
4. AntiportersIBA
5. Proteins (Proteins, Gene)FDA Link
6. ChloridesIBA
7. Sulfur Amino AcidsIBA
8. 2'- chloro- 2,4- dinitro- 5'- 6- di(trifluoromethyl)diphenylamineIBA
9. xylometazoline (stas)IBA