Hypophosphatasia, Childhood malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hypophosphatasia, Childhood:
Orphanet epidemiological data:53
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
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Oral diseases
ICD10: 30 29
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
NIH Rare Diseases:47 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, Childhood, also known as 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, Childhood is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways are Folate biosynthesis and Osteoblast Signaling. Affiliated tissues include bone and skin, and related mouse phenotypes are respiratory system and craniofacial.
Genetics Home Reference:25 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.
OMIM:51 Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and... (241510) more...
UniProtKB/Swiss-Prot:69 Hypophosphatasia childhood type: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.
GeneReviews for NBK1150
Human phenotypes related to Hypophosphatasia, Childhood:63 53 (show all 35)
UMLS symptoms related to Hypophosphatasia, Childhood:seizures, waddling gait, constipation, fever of unknown origin, vomiting
Drugs for Hypophosphatasia, Childhood (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 23)
Search NIH Clinical Center for Hypophosphatasia, Childhood
MalaCards organs/tissues related to Hypophosphatasia, Childhood:35
MGI Mouse Phenotypes related to Hypophosphatasia, Childhood:40
UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatasia, Childhood:69
Clinvar genetic disease variations for Hypophosphatasia, Childhood:5 (show all 28)
Search GEO for disease gene expression data for Hypophosphatasia, Childhood.
Pathways related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
Cellular components related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
Biological processes related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Hypophosphatasia, Childhood according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet