Achondrogenesis Type 1B

Common Name(s)

Achondrogenesis Type 1B

Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Achondrogenesis Type 1B" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Achondrogenesis Type 1B" returned 1 free, full-text research articles on human participants. First 3 results:

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
 

Author(s): A Rossi, J Bonaventure, A L Delezoide, G Cetta, A Superti-Furga

Journal: J. Biol. Chem.. 1996 Aug;271(31):18456-64.

 

Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, J. J., Rossi, A., Blau, N., Rimoin, ...

Last Updated: 24 Sep 1996

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Achondrogenesis Type 1B" returned 1 free, full-text review articles on human participants. First 3 results:

Achondrogenesis type 1B.
 

Author(s): A Superti-Furga

Journal: J. Med. Genet.. 1996 Nov;33(11):957-61.

 

Last Updated: 13 Mar 1997

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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