Hypophosphatasia

General Information (adopted from Orphanet):

Synonyms, Signs: HPP
Phosphoethanolaminuria
Rathburn disease
Number of Symptoms 0
OrphanetNr: 436
OMIM Id: 146300
241500
241510
ICD-10: E83.3
UMLs: C0020630
MeSH: D007014
MedDRA: 10049933
Snomed: 190859005
360792001

Prevalence, inheritance and age of onset:

Prevalence: 0.21 [Orphanet]
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Primary bone dysplasia with defective bone mineralization
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Comment:

This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Hypophosphatasia comprises the following Phenodis entries: Phenodis:2771 Perinatal lethal hypophosphatasia; Phenodis:2773 Infantile hypophosphatasia; Phenodis:2774 Childhood-onset hypophosphatasia; Phenodis:2775 Adult hypophosphatasia; Phenodis:2776 Odontohypophosphatasia;

Symptom Information: Sort by abundance 

Associated genes:

ALPL;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis GeneReviews Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the context of low activity of serum and bone alkaline phosphatase....
Clinical Description GeneReviews The clinical features of hypophosphatasia represent a spectrum ranging from stillbirth without mineralized bone to pathologic fractures of the lower extremities in later adulthood [Whyte 1994]....
Genotype-Phenotype Correlations GeneReviews Most affected individuals have unique mutant alleles, making the prediction of the phenotype difficult. However, there is a good correlation between the severity of the phenotype and the residual enzymatic activity produced in vitro by the enzyme [Zurutuza et al 1999, Orimo et al 2001]....
Differential Diagnosis GeneReviews The differential diagnosis of hypophosphatasia depends on the age at which the diagnosis is considered. Clinical features that help differentiate hypophosphatasia from other conditions include bone hypomineralization prenatally and immediately postnatally; elevated serum concentrations of calcium and phosphorus postnatally; and of course, persistently low serum alkaline phosphatase enzyme activity....
Management GeneReviews To establish the extent of disease in an individual diagnosed with hypophosphatasia, the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....