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hypophosphatasia - rare inherited metabolic disease resulting in decreased bone mineralization
Definition for hypophosphatasia
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization.
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Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss.
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dental problems
not gaining weight
pain in several joints
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1 - 7 of
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do i have 'hypophosphatasia'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'hypophosphatasia'
1 - 5 of
22
diagnostic tests
Serum Alkaline Phosphatase (ALP)
hypophosphatasia and Serum Alkaline Phosphatase (ALP)
tissue non-specific Alkaline Phosphatase (TNSALP)
hypophosphatasia and tissue non-specific Alkaline Phosphatase (TNSALP)
Liver Function Tests
elevated liver enzymes
hypophosphatasia and Liver Function Tests
Serum calcium
hypophosphatasia and Serum calcium
Serum phosphorus
hypophosphatasia and Serum phosphorus
X-rays
hypophosphatasia and X-rays
Chorionic Villus Sampling (CVS)
hypophosphatasia and Chorionic Villus Sampling (CVS)
Serum Parathyroid hormone (PTH)
hypophosphatasia and Serum Parathyroid hormone (PTH)
serum inorganic pyrophosphate (PPi)
hypophosphatasia and serum inorganic pyrophosphate (PPi)
serum phosphoethanolamine (PEA)
hypophosphatasia and serum phosphoethanolamine (PEA)
serum pyridoxal 5'-phosphate (PLP)
hypophosphatasia and serum pyridoxal 5'-phosphate (PLP)
urinary inorganic pyrophosphate (PPi)
hypophosphatasia and urinary inorganic pyrophosphate (PPi)
urinary phosphoethanolamine (PEA)
hypophosphatasia and urinary phosphoethanolamine (PEA)
urinary pyridoxal-5'-phosphate (PLP)
hypophosphatasia and urinary pyridoxal-5'-phosphate (PLP)
Serum 1,25 dihydroxyvitamin D
active hormonal form of vitamin D
hypophosphatasia and Serum 1,25 dihydroxyvitamin D
Serum 25-Hydroxyvitamin D
hypophosphatasia and Serum 25-Hydroxyvitamin D
Amniocentesis
hypophosphatasia and Amniocentesis
Bone biopsy
hypophosphatasia and Bone biopsy
Molecular Genetic Studies
hypophosphatasia and Molecular Genetic Studies
BUN
hypophosphatasia and BUN
Serum Creatinine
hypophosphatasia and Serum Creatinine
Serum magnesium
hypophosphatasia and Serum magnesium
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therapeutic procedures for 'hypophosphatasia'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for hypophosphatasia:
therapeutic procedure search results for 'hypophosphatasia'
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Orthopedic surgical care
hypophosphatasia and Orthopedic surgical care
medications search results for 'hypophosphatasia'
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web search results for hypophosphatasia
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- hypophosphatasia
Hypophosphatasia - Wikipedia, the free encyclopedia
Hypophosphatasia is a rare inherited metabolic disorder of decreased tissue ... Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities ...
http://en.wikipedia.org/wiki/Hypophosphatasia
en.wikipedia.org
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summary
Hypophosphatasia - Genetics Home Reference
The signs and symptoms of hypophosphatasia vary widely and can appear anywhere ... Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia
ghr.nlm.nih.gov
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Hypophosphatasia -- GeneReviews -- NCBI Bookshelf
Hypophosphatasia is characterized by defective mineralization of bone and/or ... In autosomal dominant hypophosphatasia, most probands have an affected parent; ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hops
www.ncbi.nlm.nih.gov
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Hypophosphatasia
This information is provided as a resource and does not constitute an endorsement for any group. ... Provides support for families affected by hypophosphatasia. ...
http://www.webmd.com/a-to-z-guides/hypophosphatasia
www.webmd.com
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Congenital Hypophosphatasia: Bone and Connective Tissue Disorders in ...
... · Chondromalacia Patellae·Congenital Hypophosphatasia· Cutis Laxa· Ehlers-Danlos ... Congenital hypophosphatasia is absence or low levels of serum alkaline ...
http://www.merck.com/mmpe/sec19/ch284/ch284h.html
www.merck.com
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Hypophosphatasia - Yahoo! Health
Hypophosphatasia ... Hypophosphatasia Division. International network. Founded 1990. Provides support for families affected by hypophosphatasia. ...
http://health.yahoo.com/other-other/hypophosphatasia/healthwise--shc29hyo.html
health.yahoo.com
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Hypophosphatasia - MedlinePlus - Health information - Genetics Home ...
Genetic Conditions > hypophosphatasia > MedlinePlus - Health information ... information in the Genetics Home Reference condition summary on hypophosphatasia. ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/MedlinePlus
ghr.nlm.nih.gov
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Hypophosphatasia
Hypophosphatasia is characterized by defective mineralization of ... perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Hypophosphatasia - OMIM - Genetic disorder catalog - Genetics Home ...
... information in the Genetics Home Reference condition summary on hypophosphatasia. OMIM: Hypophosphatasia, adult type. OMIM: Hypophosphatasia, childhood ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/OMIM
ghr.nlm.nih.gov
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Hypophosphatasia.
Hypophosphatasia is a rare inherited disorder characterized by defective bone ... Prenatal assessment of severe hypophosphatasia by mutation analysis of chorionic ...
http://www.ncbi.nlm.nih.gov/pubmed/17916236
www.ncbi.nlm.nih.gov
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Congenital Hypophosphatasia: Bone and Connective Tissue Disorders in ...
Congenital hypophosphatasia is absence or low levels of serum alkaline ... Because serum alkaline phosphatase is absent or decreased, Ca++ is not diffusely ...
http://www.merck.com/mmpe/print/sec19/ch284/ch284h.html
www.merck.com
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Hypophosphatasia - Related Gene(s) - Genetics Home Reference
Genetic Conditions > hypophosphatasia > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ... Department of Health & Human Services, ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/Related+Gene(s)
ghr.nlm.nih.gov
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Hypophosphatasia -- GeneReviews -- NCBI Bookshelf
... signs of hypophosphatasia. A. Alveolar bone loss surrounding molars, childhood hypophosphatasia ... C. Looser zone (pseudofracture), adult hypophosphatasia ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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Hypophosphatasia - Educational resources - Information pages - Genetics ...
Genetic Conditions > hypophosphatasia > Educational resources ... information in the Genetics Home Reference condition summary on hypophosphatasia. ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/Educational+resources
ghr.nlm.nih.gov
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Hypophosphatasia: the mutations in the tissue-nonspecific alkaline ...
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. ... Hypophosphatasia is an inborn error of metabolism caused by a deficiency of ...
http://www.ncbi.nlm.nih.gov/pubmed/10737975
www.ncbi.nlm.nih.gov
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Hypophosphatasia - Patient support - For patients and families ...
... information in the Genetics Home Reference condition summary on hypophosphatasia. ... Osteogenesis Imperfecta Foundation: Hypophosphatasia ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/Patient+support
ghr.nlm.nih.gov
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Adult hypophosphatasia. Current aspects.
Hypophosphatasia is an inborn metabolic disorder in which abnormally low levels ... There are several forms of hypophosphatasia, with wide variations in severity. ...
http://www.ncbi.nlm.nih.gov/pubmed/11324927
www.ncbi.nlm.nih.gov
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Hypophosphatasia - References - Genetics Home Reference
Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific ... Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. ...
http://ghr.nlm.nih.gov/condition=hypophosphatasia/show/References
ghr.nlm.nih.gov
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Infantile hypophosphatasia: transplantation therapy trial using bone ...
Infantile hypophosphatasia: transplantation therapy trial using bone fragments ... BACKGROUND: Hypophosphatasia (HPP) is a rare, heritable, metabolic bone disease ...
http://www.ncbi.nlm.nih.gov/pubmed/17519318
www.ncbi.nlm.nih.gov
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Hypophosphatasia; a new developmental anomaly.
1: Am J Dis Child. 1948 Jun;75(6):822-31. Hypophosphatasia; a new developmental anomaly. ... Organophosphorus Compounds. Phosphorus. PMID: 18110134 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/18110134
www.ncbi.nlm.nih.gov
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Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP ...
Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. ... Department of Biochemistry and Molecular Biology, Nippon Medical ...
http://www.ncbi.nlm.nih.gov/pubmed/9192863
www.ncbi.nlm.nih.gov
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Hypophosphatasia
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth ... Hypophosphatasia, ALPL gene, alkaline phosphatase, bone disease, ...
http://www.orpha.net/data/patho/GB/uk-hypophosphatasia.pdf
www.orpha.net
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Bone metabolism and bone mineral density in childhood hypophosphatasia.
Childhood hypophosphatasia (HP) is an inborn error of bone metabolism, ... Bone mineral density (BMD) in childhood HP has not been reported so far. ...
http://www.ncbi.nlm.nih.gov/pubmed/10495141
www.ncbi.nlm.nih.gov
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Kinetic characterization of hypophosphatasia mutations with ...
Kinetic characterization of hypophosphatasia mutations with physiological ... After introducing each single hypophosphatasia mutation, the setTNAP and mutant ...
http://www.ncbi.nlm.nih.gov/pubmed/12162492
www.ncbi.nlm.nih.gov
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Autosomal recessive hypophosphatasia manifesting in utero with long ...
Autosomal recessive hypophosphatasia manifesting in utero with long bone ... CONTEXT: Hypophosphatasia (HPP) is a heritable metabolic disorder of the ...
http://www.ncbi.nlm.nih.gov/pubmed/18559907
www.ncbi.nlm.nih.gov
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Atypical Femoral Fractures, Bisphosphonates, and Adult Hypophosphatasia.
Atypical Femoral Fractures, Bisphosphonates, and Adult Hypophosphatasia. Whyte MP. Division of Bone and Mineral Diseases, Washington University School of Medicine ...
http://www.ncbi.nlm.nih.gov/pubmed/19113923
www.ncbi.nlm.nih.gov
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Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity ...
Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum ... Hypophosphatasia is a rare metabolic bone disease characterized biochemically by ...
http://www.ncbi.nlm.nih.gov/pubmed/8964842
www.ncbi.nlm.nih.gov
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Hypophosphatasia - Yahoo! Health
Important It is possible that the main title of the report Hypophosphatasia is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/children-resources/hypophosphatasia/...
health.yahoo.com
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable health ... Hypophosphatasia. Hypophosphatemia ...
http://www.webmd.com/a-to-z-guides/health-topics/hu-hz.htm
www.webmd.com
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Talk:Hypophosphatasia - Wikipedia, the free encyclopedia
Talk:Hypophosphatasia. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... Retrieved from "http://en.wikipedia.org/wiki/Talk:Hypophosphatasia" ...
http://en.wikipedia.org/wiki/Talk:Hypophosphatasia
en.wikipedia.org
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Orphanet: Hypophosphatasia
The portal for rare diseases and orphan drugs ... Hypophosphatasia is a rare inherited disorder characterized by defective bone ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=436
www.orpha.net
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Periodontitis: Common Dental Disorders: Merck Manual Professional
Periodontitis is an infection of the periodontium?causing inflammation of the ... (types IV and VIII); vitamin C deficiency (scurvy); and hypophosphatasia. ...
http://www.merck.com/mmpe/print/sec08/ch095/ch095e.html
www.merck.com
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Periodontitis: Common Dental Disorders: Merck Manual Professional
Introduction· Caries· Gingivitis· Other Gingival Disorders·Periodontitis· Pulpitis ... (types IV and VIII); vitamin C deficiency (scurvy); and hypophosphatasia. ...
http://www.merck.com/mmpe/sec08/ch095/ch095e.html
www.merck.com
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ALPL - alkaline phosphatase, liver/bone/kidney - Genetics Home Reference
hypophosphatasia - caused by mutations in the ALPL gene ... the defective mineralization of bones and teeth in people with hypophosphatasia. ...
http://ghr.nlm.nih.gov/gene=alpl
ghr.nlm.nih.gov
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Chondromalacia Patellae: Bone and Connective Tissue Disorders in ...
... ·Chondromalacia Patellae· Congenital Hypophosphatasia· Cutis Laxa· Ehlers-Danlos ... Next: Congenital Hypophosphatasia. Audio. Figures. Photographs ...
https://www.merck.com/mmpe/sec19/ch284/ch284j.html
/www.merck.com
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Different missense mutations at the tissue-nonspecific alkaline ...
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely ... The biochemical hallmark of hypophosphatasia is deficient activity of the tissue ...
http://www.ncbi.nlm.nih.gov/pubmed/1409720
www.ncbi.nlm.nih.gov
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Mouth and teeth - Genetics Home Reference
hypophosphatasia. Hypotonia, obesity, and prominent incisors see Cohen syndrome ... Phosphoethanolaminuria see hypophosphatasia ...
http://ghr.nlm.nih.gov/conditionCategory=mouthandteeth
ghr.nlm.nih.gov
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Severe hypercalcaemia and respiratory insufficiency associated with ...
... patient with infantile hypophosphatasia associated with severe hypercalcaemia ... useful for assessing the clinical course of this patient with hypophosphatasia. ...
http://www.ncbi.nlm.nih.gov/pubmed/10834525?dopt=Abstract
www.ncbi.nlm.nih.gov
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Function of mutant (G1144A) tissue-nonspecific ALP gene from ...
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. ... Hypophosphatasia (HOPS) is a clinically heterogeneous heritable disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/12412800
www.ncbi.nlm.nih.gov
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Low serum alkaline phosphatase activity and pathologic fracture: case ...
... a pathologic fracture and to characterize hypophosphatasia in adult patients. ... CONCLUSION: Hypophosphatasia is a rare inborn error of metabolism due to a ...
http://www.ncbi.nlm.nih.gov/pubmed/17229666
www.ncbi.nlm.nih.gov
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Identification of novel missense mutations (Phe310Leu and Gly439Arg) in ...
Hypophosphatasia is associated with a defect of the tissue-non-specific alkaline ... in a surviving patient diagnosed at birth as having hypophosphatasia, on the ...
http://www.ncbi.nlm.nih.gov/pubmed/8954059
www.ncbi.nlm.nih.gov
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Denaturing gradient gel electrophoresis analysis of the tissue ...
Hypophosphatasia, a heritable form of rickets/osteomalacia, was first described in 1948. ... Nevertheless, hypophosphatasia manifests an extraordinary range of ...
http://www.ncbi.nlm.nih.gov/pubmed/11855933?dopt=Abstract
www.ncbi.nlm.nih.gov
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H J Girschick - NextBio
... Etanercept Hypophosphatasia immunoglobulin inflammatory response juvenile ... Hypophosphatasia (HP) is a rare inborn error of bone and mineral metabolism ...
http://www.nextbio.com/b/literature/literature.nb?author=H+J+Girschick
www.nextbio.com
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Aberrant interchain disulfide bridge of tissue-nonspecific alkaline ...
... phosphatase (TNSALP) gene are responsible for hypophosphatasia characterized ... diagnosed with the mild or severe form of hypophosphatasia, respectively. ...
http://www.ncbi.nlm.nih.gov/pubmed/17212778?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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AceView: gene:ALPL, a comprehensive annotation of human, mouse and worm ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... as hypophosphatasia, a disorder ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=ALPL
www.ncbi.nlm.nih.gov
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Bone Diseases - Genetics Home Reference
hypophosphatasia. Jackson-Weiss syndrome. Kniest dysplasia. Marfan syndrome ... polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ...
http://ghr.nlm.nih.gov/conditionGroup=bonediseases
ghr.nlm.nih.gov
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Cutis Laxa: Bone and Connective Tissue Disorders in Children: Merck ...
Ear, Nose, Throat, and Dental Disorders. Endocrine and Metabolic Disorders ... · Chondromalacia Patellae· Congenital Hypophosphatasia·Cutis Laxa· Ehlers-Danlos ...
http://www.merck.com/mmpe/sec19/ch284/ch284b.html
www.merck.com
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Characterization of missense mutations and large deletions in the ALPL ...
Hypophosphatasia is a rare inherited bone disorder characterized by defective ... of undetected mutations in hypophosphatasia and improves genetic counselling in ...
http://www.ncbi.nlm.nih.gov/pubmed/17253930?dopt=AbstractPlus
www.ncbi.nlm.nih.gov
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Delayed transport of tissue-nonspecific alkaline phosphatase with ...
... alkaline phosphatase with missense mutations causing hypophosphatasia. ... Hypophosphatasia is a rare genetic disease characterized by diminished bone and ...
http://www.ncbi.nlm.nih.gov/pubmed/17719863
www.ncbi.nlm.nih.gov
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ALPL - Wikipedia, the free encyclopedia
Hypophosphatasia: the mutations in the tissue-nonspecific ... Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. ...
http://en.wikipedia.org/wiki/ALPL
en.wikipedia.org
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