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 87 free, full-text research articles on human participants. First 3 results:

Expensive New Biologic Helps Children Fight Hypophosphatasia.
 

Author(s): Thomas Morrow

Journal: Manag Care. 2015 Dec;24(12):25-6.

 

Last Updated: 25 Jan 2016

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Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.
 

Author(s): Michael P Whyte, Cheryl Rockman-Greenberg, Keiichi Ozono, Richard Riese, Scott Moseley, Agustin Melian, David D Thompson, Nicholas Bishop, Christine Hofmann

Journal: J. Clin. Endocrinol. Metab.. 2016 Jan;101(1):334-42.

 

Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50-100% mortality, typically from respiratory complications.

Last Updated: 6 Jan 2016

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Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.
 

Author(s): Jérémie Silvent, Barbara Gasse, Etienne Mornet, Jean-Yves Sire

Journal: J. Biol. Chem.. 2014 Aug;289(35):24168-79.

 

ALPL encodes the tissue nonspecific alkaline phosphatase (TNSALP), which removes phosphate groups from various substrates. Its function is essential for bone and tooth mineralization. In humans, ALPL mutations lead to hypophosphatasia, a genetic disorder characterized by defective ...

Last Updated: 30 Aug 2014

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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 6 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: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).
 

Author(s): Deborah Wenkert, William H McAlister, Stephen P Coburn, Janice A Zerega, Lawrence M Ryan, Karen L Ericson, Joseph H Hersh, Steven Mumm, Michael P Whyte

Journal: J. Bone Miner. Res.. 2011 Oct;26(10):2389-98.

 

Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Patients manifest rickets or osteomalacia and dental disease ranging from absence of skeletal mineralization in utero to only ...

Last Updated: 28 Sep 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 20 Jan 2016

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Health Burden of Hypophosphatasia
 

Status: Not yet recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 21 Apr 2016

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Biomarker for Hypophosphatasia Disease
 

Status: Recruiting

Condition Summary: HEREDITARY DISEASES; METABOLISM, INBORN ERRORS; Hypophosphatasia

 

Last Updated: 14 Mar 2016

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