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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)
Also Known As:
Hypophosphatasias
Networked: 363 relevant articles (7 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Osteomalacia
2. Vascular Diseases (Vascular Disease)
3. Bone Diseases (Bone Disease)
4. Rickets (Rachitis)
5. Seizures (Seizure)

Experts

1. Mornet, Etienne: 25 articles (11/2015 - 10/2002)
2. Whyte, Michael P: 24 articles (06/2015 - 01/2002)
3. Millán, José Luis: 23 articles (12/2015 - 04/2004)
4. Mumm, Steven: 16 articles (06/2015 - 02/2002)
5. Mornet, E: 16 articles (01/2012 - 01/2000)
6. Orimo, Hideo: 13 articles (03/2014 - 01/2002)
7. Narisawa, Sonoko: 12 articles (12/2015 - 04/2004)
8. Oda, Kimimitsu: 12 articles (08/2015 - 02/2002)
9. Coburn, Stephen P: 9 articles (06/2015 - 01/2002)
10. Shimada, Takashi: 8 articles (12/2015 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypophosphatasia:
1. Alkaline PhosphataseIBA
2. Teriparatide (Parathar)FDA Link
3. Biological Markers (Surrogate Marker)IBA
4. CollagenIBA
5. nucleotide pyrophosphataseIBA
6. Factor IX (PTC)FDA LinkGeneric
7. ruberythric acid (AlP)IBA
8. N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
9. phosphorylethanolamine (phosphoethanolamine)IBA
10. EnzymesIBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Transplantation (Transplant Recipients)
4. Intravenous Infusions
5. Mesenchymal Stem Cell Transplantation