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Vitamin D-dependent rickets, type 2B
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Vitamin D-dependent rickets, type 2B

Clinical feature: 

Definition: 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 link table: 

Hereditary Rickets
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
Dent disease
CLCN5
OCRL1
Lowe disease
OCRL1
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
autosomal dominant hypophosphatemic rickets
FGF23
x-linked dominant hypophosphatemic rickets
PHEX

Literature: 

Chen H et al. (2006) Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein.
Chen H et al. (2003) Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance.
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.
Hewison M et al. (1993) Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.