Hypophosphatasia
... is considered particularly rare in people of African ancestry in the U.S. Hypophosphatasia is often discovered ... "Hypophosphatasia Signs and Symptoms". Hypophosphatasia.com. Archived from the original on 15 October 2014. Retrieved 10 ... "Hypophosphatasia". Genetics Home Reference. "Hypophosphatasia". NORD (National Organization for Rare Disorders). Retrieved 2020 ... but not adult hypophosphatasia. Perinatal hypophosphatasia is the most lethal form. Profound hypomineralization results in ...
Bone disease
"hypophosphatasia". Genetics Home Reference. Andrews, James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of ... Fracture Giant cell tumor of bone Greenstick fracture Gout Hypophosphatasia Hereditary multiple exostoses Klippel-Feil syndrome ...
Osteoporosis
"Hypophosphatasia Case Studies: Dangers of Misdiagnosis". Hypophosphatasia.com. Archived from the original on 8 August 2014. ... Mornet E, Nunes ME (20 November 2007). "Hypophosphatasia". GeneReviews: Hypophostasia. NCBI. PMID 20301329. Archived from the ... hypophosphatasia (for which it is often misdiagnosed), glycogen storage diseases, homocystinuria, Ehlers-Danlos syndrome, ...
Crystal arthropathy
Retrieved 10 September 2014.{{cite web}}: CS1 maint: multiple names: authors list (link) "Hypophosphatasia Pathology". ... Hypophosphatasia.com. Retrieved 10 September 2014. Geelhoed, GW; Kelly, TR (December 1989). "Pseudogout as a clue and ... in cartilage Decreased levels of cartilage glycosaminoglycans Hyperparathyroidism Hemochromatosis Hypophosphatasia ...
Rickets
"Hypophosphatasia: Signs and Symptoms". Hypophosphatasia.com. Archived from the original on 15 October 2014. Retrieved 10 ... like hypophosphatasia or hypophosphatemia, can also lead to rickets. Strontium is allied with calcium uptake into bones; at ...
List of OMIM disorder codes
TBCE Hypophosphatasia, adult; 146300; ALPL Hypophosphatasia, childhood; 241510; ALPL Hypophosphatasia, infantile; 241500; ALPL ...
List of conditions with craniosynostosis
"Childhood hypophosphatasia (Concept Id: C0220743) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02. "Chromosome ... "Infantile hypophosphatasia (Concept Id: C0268412)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02. "Intellectual developmental ...
Alexion Pharmaceuticals
It is used to treat hypophosphatasia, a rare metabolic disorder. In 2016, the company became a member of the Pharmaceutical ... used to treat hypophosphatasia; sebelipase alfa (Kanuma), used to treat lysosomal acid lipase deficiency, and andexanet alfa ( ... and Juvenile-Onset Hypophosphatasia (HPP)" (Press release). Business Wire. October 23, 2015. Helfand, Carly (July 18, 2016). " ... a drug used to treat the genetic disorder hypophosphatasia, for as much as $1.08 billion. In June 2015, Alexion acquired ...
ALPL
This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by low serum ALP ... Mornet E (2000). "Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene". Human Mutation. 15 (4 ... GeneReviews/NCBI/NIH/UW entry on Hypophosphatasia Human ALPL genome location and ALPL gene details page in the UCSC Genome ... Orimo H, Goseki-Sone M, Sato S, Shimada T (June 1997). "Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP ...
Asfotase alfa
People with hypophosphatasia cannot make enough working ALP, which leads to weak bones. Asfotase alfa is a version of the human ... Hypophosphatasia is caused by a genetic defect of tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme that plays a role ... Bowden SA, Foster BL (2018). "Profile of asfotase alfa in the treatment of hypophosphatasia: design, development, and place in ... Scott LJ (February 2016). "Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia". Drugs. 76 (2): 255-62. doi:10.1007/ ...
Max Barrett
... and pathological features of hypophosphatasia; based on the study of a family". The Quarterly Journal of Medicine. 25 (100): ...
Megavitamin-B6 syndrome
... phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism". Journal of Clinical Investigation. ... tests are performed to rule out other causes and to confirm an elevated level of vitamin B6 with an absence of hypophosphatasia ...
Ehlers-Danlos syndromes
"A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia". AACE Clinical Case Reports. 8 (6): 255-258 ...
Specialty drugs in the United States
It will be used to treat hypophosphatasia, a rare metabolic disorder. In 2015 Alexion estimated that Synageva, its specialty ...
Cheryl Rockman-Greenberg
Rockman-Greenberg is the leading Canadian researcher in the treatment of hypophosphatasia. She also developed targeted DNA- ...
Hypocementosis
It is a feature of conditions such as cleidocranial dysplasia and hypophosphatasia. Ireland R (25 March 2010). A Dictionary of ...
Liver function tests
In contrast, low levels of ALP is found in hypothyroidism, pernicious anemia, zinc deficiency, and hypophosphatasia. ALP ...
Osteopontin
... and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102-122. doi:10.1111/prd. ... the Stenciling Principle is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X- ...
PHEX
... and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102-122. doi:10.1111/prd. ... Principle for mineralization is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X- ...
Osteomalacia
... and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102-22. doi:10.1111/prd.12029 ... Principle for mineralization is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia (HPP) ...
X-linked hypophosphatemia
For both XLH and hypophosphatasia, inhibitor-enzyme pair relationships function to regulate mineralization in the extracellular ... and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102-22. doi:10.1111/prd.12029 ... and relationship to hypophosphatasia and X-linked hypophosphatemia". Periodontology 2000. 63 (1): 102-22. doi:10.1111/prd.12029 ...
Pseudofracture
... and hypophosphatasia. Looser zones are named after Emil Looser, a Swiss physician. A band of bone material of decreased density ...
Alkaline phosphatase
April 2019). "Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in ... Hypophosphatasia, a genetic disorder Women receiving estrogen therapy for menopausal symptoms[citation needed] Estrogen- ...
Osteogenesis imperfecta
... hypophosphatasia, geroderma osteodysplasticum, and Ehlers-Danlos syndrome.: 1513 : 253-256 Various forms of osteoporosis, such ...
Wormian bones
Menke's syndrome Cleidocranial dysostosis Hypothyroidism and hypophosphatasia Otopalatodigital syndrome Primary acro-osteolysis ...
Atelosteogenesis type I
Achondrogenesis Atelosteogenesis III Boomerang dysplasia Campomelic dysplasia Ellis-Van Creveld syndrome Hypophosphatasia ...
Vitamin B6
... hyperprolinaemia type II and hypophosphatasia) can trigger vitamin B6 deficiency-dependent epileptic seizures in infants. These ...
HPP
... a muscle disease Hypophosphatasia, a bone disease Hypoxia preconditioned plasma Hardy-Pomeau-Pazzis model, in computational ...
List of periodontal diseases
... hypophosphatasia, and others. Necrotizing periodontal diseases are non-contagious infections but may occasionally occur in ...
List of MeSH codes (C18)
... hypophosphatasia MeSH C18.452.648.618.544 - hypophosphatemia, familial MeSH C18.452.648.618.590 - Menkes kinky hair syndrome ...