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Vitamin D-dependent rickets, type 2A

Vitamin D-dependent rickets type 2A is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). Also an alopecia is a common finding. The disease is caused by loss-of-function mutations in the vitamin D receptor gene.


Hereditary Rickets
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



Faraco JH et al. (1989) ApaI dimorphism at the human vitamin D receptor gene locus.


Baker AR et al. (1988) Cloning and expression of full-length cDNA encoding human vitamin D receptor.


Hughes MR et al. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.


Fraher LJ et al. (1986) Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia.


Kristjansson K et al. (1993) Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.


Malloy PJ et al. (1997) Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.


Arita K et al. (2008) A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.


Brooks MH et al. (1978) Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.


Rosen JF et al. (1979) Rickets with alopecia: an inborn error of vitamin D metabolism.


Marx SJ et al. (1978) A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D.


Malloy PJ et al. (1989) Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.


Barsony J et al. (1989) Selective expression of a normal action of the 1,25-dihydroxyvitamin D3 receptor in human skin fibroblasts with hereditary severe defects in multiple actions of that receptor.


Manandhar DS et al. (1989) Rickets with alopecia-remission following a course of 1-alpha-hydroxy vitamin D3 therapy.


Liberman UA et al. (1986) Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation.


Balsan S et al. (1986) Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.


Takeda E et al. (1986) Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes.


Marx SJ et al. (1986) Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.


Zerwekh JE et al. (1979) An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D.


Gamblin GT et al. (1985) Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.


Marx SJ et al. (1984) Hereditary resistance to 1,25-dihydroxyvitamin D.


Sockalosky JJ et al. (1980) Vitamin D--resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3.


Tsuchiya Y et al. (1980) An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D.


Eil C et al. (1981) A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.


Feldman D et al. (1982) Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3.


Liberman UA et al. (1983) Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.


Griffin JE et al. (1983) Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.


Pike JW et al. (1984) Vitamin D3--resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors.


None (1980) Vitamin D-dependent rickets type II.


Marx SJ et al. (1980) Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3.


Kudoh T et al. (1981) Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D.


Gunnes M et al. (1997) Lack of relationship between vitamin D receptor genotype and forearm bone gain in healthy children, adolescents, and young adults.


OMIM.ORG article

Omim 277440 [^]
Update: May 10, 2019
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