Vitamin D-dependent rickets, type 2b, with normal vitamin D receptor

Preferred Label : Vitamin D-dependent rickets, type 2b, with normal vitamin D receptor;

Symbol : VDDR2B;

CISMeF acronym : VDDR2B;

Type : Phenotype or locus, molecular basis unknown;

Description : Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).;

Inheritance : Isolated cases;

Laboratory abnormalities : Low to normal serum calcium; Increased alkaline phosphatase; Increased serum 1,25-dihydroxyvitamin D3; May have increased serum parathyroid hormone (PTH);

Prefixed ID : %600785;

Details

Origin ID

600785;

UMLS CUI

C2748783;

Automatic exact mappings (from CISMeF team)
- Hypocalcemic vitamin D-dependent rickets [ORDO Disease]
CISMeF manual mappings
- Vitamin D Dependent Rickets 2b [NCIt concept]
Currated CISMeF NLP mapping
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH concept]
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH Supplementary Concept]
DO Cross reference
- rickets [DO Concept]
HPO term(s)
- Alopecia [HPO term]
- Bowing of the long bones [HPO term]
- Bulging epiphyses [HPO term]
- Curvatures of the femur, tibia, fibula [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Femoral bowing [HPO term]
- Fibular bowing [HPO term]
- Frayed, irregular metaphyses [HPO term]
- Generalized bone demineralization [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- High serum calcitriol [HPO term]
- Increased serum 1,25-dihydroxyvitamin D3 [HPO term]
- Infantile onset [HPO term]
- Isolated cases [HPO term]
- Knee pain [HPO term]
- Metaphyseal irregularity [HPO term]
- Rickets [HPO term]
- Rickets of the lower limbs [HPO term]
- Sparse bone trabeculae [HPO term]
- Sporadic [HPO term]
- Thin bony cortex [HPO term]
- Tibial bowing [HPO term]
ORDO concept(s)
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH Supplementary Concept]
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH concept]

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