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

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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Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
 

Author(s): Christine Hofmann, Hermann Girschick, Etienne Mornet, Doris Schneider, Franz Jakob, Birgit Mentrup

Journal: Eur. J. Hum. Genet.. 2014 Oct;22(10):1160-4.

 

Hypophosphatasia (HPP) is a clinically heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene. In this report, we present a family with heterozygous parents (maternal p.(Glu191Lys), paternal p.(Gly334Asp) mutations ...

Last Updated: 18 Sep 2014

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Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters.
 

Author(s): Núria Guañabens, Steven Mumm, Ingrid Möller, Eva González-Roca, Pilar Peris, Jennifer L Demertzis, Michael P Whyte

Journal: J. Bone Miner. Res.. 2014 Apr;29(4):929-34.

 

Hypophosphatasia (HPP) is the inborn error of metabolism that features low serum alkaline phosphatase (ALP) activity caused by loss-of-function mutation(s) within the gene for the tissue nonspecific isoenzyme of ALP (TNSALP). In HPP, extracellular accumulation of inorganic pyrophosphate ...

Last Updated: 20 Mar 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 7 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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Current concepts in hypophosphatasia: case report and literature review.
 

Author(s): Amy Hollis, Paul Arundel, Alec High, Richard Balmer

Journal: Int J Paediatr Dent. 2013 May;23(3):153-9.

 

BACKGROUND.  Hypophosphatasia (HP) is characterized by defective mineralization of bone and teeth because of deficient alkaline phosphatase activity. There are generally six recognized clinical forms, of which the most severe is often lethal prenatally or early in life. In milder ...

Last Updated: 25 Mar 2013

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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: 20 Jan 2016

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Last Updated: 28 Oct 2015

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Biomarker for Hypophosphatasia Disease
 

Status: Recruiting

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

 

Last Updated: 10 Nov 2015

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