Hypophosphatasia

Common Name(s)

Hypophosphatasia

Hypophosphatasia is a genetic condition in which the activity of an enzyme called alkaline phosphatase is deficient.   This enzyme plays an essential role in mineralization - when minerals such as calcium and phosphorus are deposited in developing bones and teeth.  Low activity of this enzyme which characterizes hypophosphatasia also leads to rickets, osteomalacia, or both.  The severity of the symptoms of hypophosphatasia varies widely, from fetal loss during pregnancy to cases in which pathologic fractures first present only in adulthood.   Hypophosphatasia is caused by a mutation in a gene - called the ALPL gene - that provides instructions for making the alkaline phosphatase enzyme.  A cure or proven medical therapy for hypophosphatasia has not yet been found. Treatment is generally directed towards preventing or correcting the symptoms or complications.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypophosphatasia" for support, advocacy or research.

Soft Bones Inc.

The mission of the Soft Bones Foundation is to provide valuable information, education and support for people living with Hypophosphatasia (HPP), their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.

Last Updated: 7 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hypophosphatasia" for support, advocacy or research.

Soft Bones Inc.

The mission of the Soft Bones Foundation is to provide valuable information, education and support for people living with Hypophosphatasia (HPP), their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.

http://www.softbones.org

Last Updated: 7 Nov 2012

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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 "Hypophosphatasia" returned 58 free, full-text research articles on human participants. First 3 results:

Enzyme replacement therapy on hypophosphatasia mouse model.
 

Author(s): Hirotaka Oikawa, Shunji Tomatsu, Bisong Haupt, Adriana M Montaño, Tsutomu Shimada, William S Sly

Journal: J. Inherit. Metab. Dis.. 2014 Mar;37(2):309-17.

 

Hypophosphatasia (HPP) is an inborn error of metabolism caused by deficiency of the tissue-nonspecific alkaline phosphatase (TNSALP), resulting in a defect of bone mineralization. Natural substrates for this ectoenzyme accumulate extracellulary including inorganic pyrophosphate (PPi), ...

Last Updated: 7 Apr 2014

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Clinical utility gene card for: hypophosphatasia - update 2013.
 

Author(s): Etienne Mornet, Christine Hofmann, Agnès Bloch-Zupan, Hermann Girschick, Martine Le Merrer

Journal: Eur. J. Hum. Genet.. 2014 Apr;22(4):.

 

Last Updated: 13 Mar 2014

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Tooth root dentin mineralization defects in a mouse model of hypophosphatasia.
 

Author(s): B L Foster, K J Nagatomo, H W Tso, A B Tran, F H Nociti, S Narisawa, M C Yadav, M D McKee, J I Millán, M J Somerman

Journal: J. Bone Miner. Res.. 2013 Feb;28(2):271-82.

 

Tissue-nonspecific alkaline phosphatase (TNAP) is expressed in mineralizing tissues and functions to reduce pyrophosphate (PP(i) ), a potent inhibitor of mineralization. Loss of TNAP function causes hypophosphatasia (HPP), a heritable disorder marked by increased PP(i) , resulting ...

Last Updated: 16 Jan 2013

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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 "Hypophosphatasia" returned 5 free, full-text review articles on human participants. First 3 results:

Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia.
 

Author(s): Marc D McKee, Betty Hoac, William N Addison, Nilana M T Barros, José L Millán, Catherine Chaussain

Journal: Periodontol. 2000. 2013 Oct;63(1):102-22.

 

As broadly demonstrated for the formation of a functional skeleton, proper mineralization of periodontal alveolar bone and teeth - where calcium phosphate crystals are deposited and grow within an extracellular matrix - is essential for dental function. Mineralization defects in tooth ...

Last Updated: 12 Aug 2013

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Childhood hypophosphatasia with myopathy: clinical report with recent update.
 

Author(s): I Silva, W Castelão, M Mateus, J C Branco

Journal: Acta Reumatol Port. ;37(1):92-6.

 

Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms. Childhood form is caractherized by short stature, premature loss of decidous teeth and diffuse bone pain associated ...

Last Updated: 11 Jul 2012

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Hypophosphatasia.
 

Author(s): Etienne Mornet

Journal:

 

Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in ...

Last Updated: 28 Dec 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of Patients With Hypophosphatasia (HPP)
 

Status: Recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 17 Sep 2014

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Last Updated: 13 May 2014

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An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)
 

Status: Not yet recruiting

Condition Summary: Hypophosphatasia (HPP)

 

Last Updated: 1 Dec 2014

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