Vitamin D-dependent rickets, type 2B

Definition

Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.

Also known as hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia, vitamin D dependent rickets 2b, vitamin D receptor signaling defect rickets, vitamin D receptor signalling defect rickets, vitamin D resistant rickets, vitamin D-dependent rickets type II without alopecia — per MONDO

Also identified as

• DOID 0080885 per MONDO
• NCIT C131076 per MONDO
• OMIM 600785 per MONDO
• SCTID 237895001 per MONDO
• UMLS C2748783 per MONDO

Affected Organs