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

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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Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth.
 

Author(s): Thaisângela L Rodrigues, Brian L Foster, Karina G Silverio, Luciane Martins, Marcio Z Casati, Enilson A Sallum, Martha J Somerman, Francisco H Nociti

Journal: J Endod. 2012 Jul;38(7):907-12.

 

Mutations in the gene ALPL in hypophosphatasia (HPP) reduce the function of tissue nonspecific alkaline phosphatase, and the resulting increase in pyrophosphate (PP(i)) contributes to bone and tooth mineralization defects by inhibiting physiologic calcium-phosphate (P(i)) precipitation. ...

Last Updated: 18 Jun 2012

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Enzyme replacement prevents enamel defects in hypophosphatasia mice.
 

Author(s): Manisha C Yadav, Rodrigo Cardoso de Oliveira, Brian L Foster, Hanson Fong, Esther Cory, Sonoko Narisawa, Robert L Sah, Martha Somerman, Michael P Whyte, José Luis Millán

Journal: J. Bone Miner. Res.. 2012 Aug;27(8):1722-34.

 

Hypophosphatasia (HPP) is the inborn error of metabolism characterized by deficiency of alkaline phosphatase activity, leading to rickets or osteomalacia and to dental defects. HPP occurs from loss-of-function mutations within the gene that encodes the tissue-nonspecific isozyme of ...

Last Updated: 18 Jul 2012

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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 4 free, full-text review articles on human participants. First 3 results:

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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Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
 

Author(s): P S Henthorn, M P Whyte

Journal: Clin. Chem.. 1992 Dec;38(12):2501-5.

 

Hypophosphatasia is an inborn error of metabolism that is characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) in serum and in tissues. Clinical severity is extremely ...

Last Updated: 14 Jan 1993

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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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Burden of Disease in Hypophosphatasia (HPP)
 

Status: Recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 13 Nov 2014

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