Hypophosphatasia - Symptoms, Causes, Treatment | NORD
网页2021年2月16日 · Hypophosphatasia (HPP) is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. Problems occur because mineralization is the process by which bones and teeth take up calcium and phosphorus required for proper hardness and strength.
Hypophosphatasia - Wikipedia
网页Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
Hypophosphatasia: Clinical updates and therapeutic advances
网页Hypophosphatasia (HPP) is an inborn error of metabolism with a broad spectrum of clinical severity caused by loss of function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP).
What Is Hypophosphatasia? - WebMD
网页2023年5月20日 · Hypophosphatasia is a rare condition that keeps your bones and teeth from developing properly. Learn more about its causes, symptoms, diagnosis, and treatments.
Hypophosphatasia | About the Disease | GARD
网页Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood.
Hypophosphatasia: MedlinePlus Genetics
网页Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. Explore symptoms, inheritance, genetics of this condition.
Hypophosphatasia | Home
网页Learn about hypophosphatasia (HPP), its symptoms, and its effect on both adults and children. Find resources and tools to support your HPP journey.
Hypophosphatasia: Symptoms, Causes, Treatment, and More
网页2024年2月23日 · Hypophosphatasia (HPP), also known as Rathbun disease, is a rare inborn disorder that affects the development of bones and teeth. In HPP, a genetic mutation impairs the ALPL gene, which regulates mineralization (or “calcification”), a process essential for bone and tooth strength.
Clinical Practice Guidelines for Hypophosphatasia* - PMC
网页2020年1月9日 · Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have varied clinical manifestations and are classified based on the age of onset and severity.
Hypophosphatasia (HPP) - Children's Hospital of Philadelphia
网页What is hypophosphatasia? Hypophosphatasia, sometime shortened to HPP, is a rare inherited disorder that affects the development of bones and teeth. In children and adults with hypophosphatasia, the bones and teeth do …
跳至内容