Hyperphosphatasia with mental retardation

Common Name(s)

Hyperphosphatasia with mental retardation

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {3:Krawitz et al., 2010}). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome See also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13; HPMRS3 ({614207}), caused by mutation in the PGAP2 gene ({615187}) on chromosome 11p15; and HPMRS4 ({615716}), caused by mutation in the PGAP3 gene ({611801}) on chromosome 17q12.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperphosphatasia with mental retardation" 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 "Hyperphosphatasia with mental retardation" 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 "Hyperphosphatasia with mental retardation" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.