Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Adult hypophosphatasia

Adult hypophosphatasia is an autosomal recessive or dominant disorder caused by mutations of the ALPL gene. Symptoms include rickets and a propensity to bone fractures.

Management

For therapy Strensiq® (asfotase alfa) is available.

Systematic

Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
Infantile hypophosphatasia
Odontohypophosphatasia

References:

1.

Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

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2.

None (1957) Hypophosphatasia.

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3.

Unger S et al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.

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4.

Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

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5.

Pauli RM et al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

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6.

Weinstein RS et al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.

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7.

Whyte MP et al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts.

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8.

Whyte MP et al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred.

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9.

Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.

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10.

Eade AW et al. (1981) Pyrophosphate arthropathy in hypophosphatasia.

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11.

Jardon OM et al. (1970) Hypophosphatasia in an adult.

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12.

Danovitch SH et al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia.

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13.

Whyte MP et al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.

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14.

Whyte MP et al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred.

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15.

Whyte MP et al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature.

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16.

Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide.

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17.

Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

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18.

Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia.

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19.

Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia.

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20.

Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families.

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21.

Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

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22.

OMIM.ORG article

Omim 146300 external link
23.

Orphanet article

Orphanet ID 247676 external link
Update: Aug. 14, 2020
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