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

Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
 

Author(s): Asma Deeb, Abubaker Elfatih

Journal: J Clin Res Pediatr Endocrinol. 2018 Mar;10(1):19-24.

 

Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is nonspecific leading to delayed or missed diagnosis. Low alkaline phosphatase (ALP) is a diagnostic test. Unlike high ALP, low level is commonly not flagged by laboratories ...

Last Updated: 31 Dec 1969

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Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.
 

Author(s): Halil Sağlam, Şahin Erdöl, Sevil Dorum

Journal: J Clin Res Pediatr Endocrinol. 2017 Sep;9(3):229-236.

 

Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey.

Last Updated: 31 Dec 1969

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[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: 31 Dec 1969

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

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
 

Author(s): Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono

Journal: Mol. Genet. Metab.. 2017 09;122(1-2):4-17.

 

Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, ...

Last Updated: 31 Dec 1969

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Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations.
 

Author(s): Jay R Shapiro, E Michael Lewiecki

Journal: J. Bone Miner. Res.. 2017 Oct;32(10):1977-1980.

 

Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500 to 600 known individuals in the United States. HPP is the result of mutations involving the gene for tissue nonspecific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical ...

Last Updated: 31 Dec 1969

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Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.
 

Author(s): Michael P Whyte

Journal: J. Bone Miner. Res.. 2017 04;32(4):667-675.

 

Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Autosomal inheritance (dominant or recessive) from among more than 300 predominantly missense defects of TNSALP (ALPL) explains ...

Last Updated: 31 Dec 1969

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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: 29 Jan 2018

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Health Burden of Hypophosphatasia
 

Status: Recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 22 Nov 2017

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Characterisation of Adult-Onset Hypophosphatasia
 

Status: Recruiting

Condition Summary: Hypophosphatasia

 

Last Updated: 12 Apr 2018

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