Metaphyseal chondrodysplasia Schmid type

Common Name(s)

Metaphyseal chondrodysplasia Schmid type

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metaphyseal chondrodysplasia Schmid type" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metaphyseal chondrodysplasia Schmid type" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Metaphyseal chondrodysplasia Schmid type" returned 11 free, full-text research articles on human participants. First 3 results:

Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data.
 

Author(s): Bing Wang, Li He, Wusheng Miao, Ge Wu, Hai Jiang, Yongtao Wu, Jining Qu, Min Li

Journal: Int. J. Mol. Med.. 2017 Jun;39(6):1428-1436.

 

This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, ...

Last Updated: 31 Dec 1969

Go To URL
A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.
 

Author(s): Xiuhui Hu, Xiaochen Zhang, Yanan Li, Pingping Lou, Xiaojing Li, Ling Jiang

Journal: Clin. Lab.. 2015 ;61(3-4):227-33.

 

Schmid type metaphyseal chondrodysplasia (MCDS) is a kind of autosomal inherited epiphyseal dysplasia caused by a mutation of the COL10A1 gene. Clinical expression of this mutation includes a waddling gait, coxa vara, genu varus or genu valgus and shortened lower limbs among others. ...

Last Updated: 31 Dec 1969

Go To URL
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
 

Author(s): Outi Mäkitie, Miki Susic, William G Cole

Journal: J. Orthop. Res.. 2010 Nov;28(11):1497-501.

 

Both dominant-negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame-shift mutations of COL10A1. This study examines these alternative effects. A proband with typical early-onset MCDS ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Metaphyseal chondrodysplasia Schmid type" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.