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Items: 5

1.

Adult Rickets

Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis. [from MeSH]

MedGen UID:
854493
Concept ID:
C3887650
Disease or Syndrome
2.

pyrophosphate

MedGen UID:
469784
Concept ID:
C3252566
Inorganic Chemical; Pharmacologic Substance
3.

Adult hypophosphatasia

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood (juvenile) hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. Adult hypophosphatasia characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations. [from GeneReviews]

MedGen UID:
120636
Concept ID:
C0268413
Disease or Syndrome
4.

Rootless teeth

MedGen UID:
901159
Concept ID:
C4082200
Finding
5.

Hypophosphatasia rickets

MedGen UID:
676918
Concept ID:
C0733681
Disease or Syndrome
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