Disease or Syndrome
hypophosphatasia
Subclass of:
Metal Metabolism, Inborn Errors
Definitions related to hypophosphatasia:
-
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.NCI ThesaurusU.S. National Cancer Institute, 2021
-
An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
-
Genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.CRISP ThesaurusNational Institutes of Health, 2006
-
Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood (juvenile) hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. Adult hypophosphatasia characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.GeneReviewsUniversity of Washington, 2021
-
Initially recognized by Rathbun in 1948, hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a phosphomonoesterase of 507 residues and is anchored at its carboxyl terminus to the plasma membrane by a...WebMD, 2019
-
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. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other...National Center for Advancing Translational Sciences
-
Hypophosphatasia, rare hereditary disorder characterized by very low levels of tissue and serum alkaline phosphatase (the enzyme necessary in cell processes such as muscle metabolism and bone formation). The disease is more common in females. Growth of the infant is retarded; permanent stunting...Encyclopedia Britannica, Inc., 2020
Return to OpenMD Medical Dictionary
> H
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.