Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Vitamin D-dependent rickets, type 2B

Vitamin D-dependent rickets type 2B is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). The disease is not caused by loss-of-function mutations in the vitamin D receptor gene. Hypothetical mutations interfering vitamin D receptor DNA binding are accused. The RXRA gene may be a likely candidate.

Systematic

Hereditary Rickets
Hypophosphatasia
Hypophosphatemic bone and kindney disease
Vitamin D hydroxylation-deficient rickets type 1A
Vitamin D hydroxylation-deficient rickets type 1B
Vitamin D-dependent rickets, type 2A
Vitamin D-dependent rickets, type 2B
RXRA

References:

1.

Chen H et al. (2003) Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance.

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2.

Chen H et al. (2006) Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein.

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3.

Giraldo A et al. (1995) Vitamin D dependent rickets type II and normal vitamin D receptor cDNA sequence. A cluster in a rural area of Cauca, Colombia, with more than 200 affected children.

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4.

Hewison M et al. (1993) Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.

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5.

OMIM.ORG article

Omim 600785 [^]
Update: May 10, 2019