Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
Aliases & Descriptions for Hypophosphatasia:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Ireland),1-9/1000000 (Japan); Age of onset: All ages; Age of death: any age
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Oral diseases
ICD10: 28 27
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
NIH Rare Diseases:45 Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. the forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. childhood hypophosphatasia is caused by changes (mutations) in the alpl gene and can be inherited in an autosomal dominant or autosomal recessive manner. treatment is supportive and based on the signs and symptoms present in each person. recently an enzyme replacement therapy (ert) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the fda. last updated: 3/22/2016
MalaCards based summary: Hypophosphatasia, also known as childhood hypophosphatasia, is related to hypophosphatasia, infantile and hypophosphatasia, adult, and has symptoms including abnormality of the teeth, abnormality of the ribs and narrow chest. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways are Folate biosynthesis and Endochondral Ossification. Affiliated tissues include bone, lung and endothelial, and related mouse phenotype skeleton.
Genetics Home Reference:23 Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.
Wikipedia:68 Hypophosphatasia is a rare, and sometimes fatal, metabolic bone disease. Clinical symptoms are... more...
GeneReviews summary for NBK1150
Symptoms:51 (show all 20)
HPO human phenotypes related to Hypophosphatasia:(show all 16)
UMLS symptoms related to Hypophosphatasia:vomiting, seizures, fever of unknown origin, constipation, waddling gait
Interventional clinical trials:(show all 20)
Search NIH Clinical Center for Hypophosphatasia
MalaCards organs/tissues related to Hypophosphatasia:33
Bone, Lung, Endothelial, Thyroid, Ovary, T cells, Breast
Articles related to Hypophosphatasia:(show top 50) (show all 496)
Clinvar genetic disease variations for Hypophosphatasia:5
Search GEO for disease gene expression data for Hypophosphatasia.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet