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Achondrogenesis type 1B

Also Known As:
Achondrogenesis, Fraccaro type; Achondrogenesis, Type Ib; Fraccaro achondrogenesis
Networked: 19 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1. Diastrophic dysplasia
2. Atelosteogenesis type 2
3. Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
4. Hearing Loss (Hearing Impairment)
5. Dwarfism

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. Barbosa, M: 1 article (12/2011)
5. Fortuna, A M: 1 article (12/2011)
6. Lourenço, T: 1 article (12/2011)
7. Medeira, A: 1 article (12/2011)
8. Mittaz, L: 1 article (12/2011)
9. Pinto-Basto, J: 1 article (12/2011)
10. Reis-Lima, M: 1 article (12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Achondrogenesis type 1B:
1. Proteoglycans (Proteoglycan)IBA
12/01/1994 - "The underlying molecular defects are not known, but histochemical studies have suggested that in achondrogenesis type IB, cartilage matrix is deficient in sulfated proteoglycans. "
08/01/2011 - "In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia). "
08/02/1996 - "Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter."
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. "
12/01/1994 - "We have studied cartilage extracts of one newborn with achondrogenesis type IB and found that proteoglycans were quantitatively reduced, and, unlike in control cartilage, they did not stain with toluidine blue and did not bind to DEAE. "
2. Sepharose (Agarose)IBA
3. CollagenIBA
4. Sulfate TransportersIBA
5. Sulfates (Sulfates, Inorganic)IBA
6. AntiportersIBA
7. ChloridesIBA
8. DecorinIBA
9. Terminator Codon (Termination Codon)IBA
10. Tolonium ChlorideFDA Link