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

[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
 

Author(s): Deng-Feng Li, Dan Lan, Jing-Zi Zhong, Roma Kajal Dewan, Yan-Shu Xie, Ying Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):539-544.

 

This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), ...

Last Updated: 16 May 2017

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Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.
 

Author(s): Lothar Seefried, Jasmin Baumann, Sarah Hemsley, Christine Hofmann, Erdmute Kunstmann, Beate Kiese, Yue Huang, Simon Chivers, Marie-Anne Valentin, Babul Borah, Ronenn Roubenoff, Uwe Junker, Franz Jakob

Journal: J. Clin. Invest.. 2017 Jun;127(6):2148-2158.

 

Hypophosphatasia (HPP) is a rare genetic disorder resulting in variable alterations of bone formation and mineralization that are caused by mutations in the ALPL gene, encoding the tissue-nonspecific alkaline phosphatase (ALP) enzyme.

Last Updated: 24 Apr 2017

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Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
 

Author(s): Álvaro Sebastián-Serrano, Tobias Engel, Laura de Diego-García, Luis A Olivos-Oré, Marina Arribas-Blázquez, Carlos Martínez-Frailes, Carmen Pérez-Díaz, José Luis Millán, Antonio R Artalejo, María Teresa Miras-Portugal, David C Henshall, Miguel Díaz-Hernández

Journal: Hum. Mol. Genet.. 2016 Oct;25(19):4143-4156.

 

Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures. Initially, these seizures were attributed ...

Last Updated: 5 Sep 2016

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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:

Alkaline Phosphatase and Hypophosphatasia.
 

Author(s): José Luis Millán, Michael P Whyte

Journal: Calcif. Tissue Int.. 2016 Apr;98(4):398-416.

 

Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PPi), a natural substrate of TNAP and potent inhibitor of mineralization. ...

Last Updated: 8 Apr 2016

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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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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: 5 Jan 2017

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Health Burden of Hypophosphatasia
 

Status: Not yet recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 3 Nov 2016

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Characterisation of Adult-Onset Hypophosphatasia
 

Status: Not yet recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 3 Nov 2016

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