VDDR2B
MCID: VTM030
MIFTS: 16

Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor (VDDR2B)

Aliases & Classifications for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

MalaCards integrated aliases for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor:

Name: Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor 56 71
Vddr2b 56

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
early-onset
responsive to treatment
based on 2 families described with no mutations in the vitamin d receptor gene (vdr, )


HPO:

31
vitamin d-dependent rickets, type 2b, with normal vitamin d receptor:
Onset and clinical course infantile onset
Inheritance sporadic


External Ids:

OMIM 56 600785
MedGen 41 C2748783
UMLS 71 C2748783

Summaries for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

OMIM : 56 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). (600785)

MalaCards based summary : Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor, also known as vddr2b, is related to rickets and vitamin d-dependent rickets, type 2a, and has symptoms including knee pain Affiliated tissues include bone and cortex, and related phenotypes are alopecia and elevated circulating parathyroid hormone level

Related Diseases for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Diseases related to Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 rickets 11.4
2 vitamin d-dependent rickets, type 2a 11.2

Symptoms & Phenotypes for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Human phenotypes related to Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor:

31 (showing 18, show less)
# Description HPO Frequency HPO Source Accession
1 alopecia 31 occasional (7.5%) HP:0001596
2 elevated circulating parathyroid hormone level 31 occasional (7.5%) HP:0003165
3 genu valgum 31 HP:0002857
4 rickets 31 HP:0002748
5 genu varum 31 HP:0002970
6 femoral bowing 31 HP:0002980
7 generalized bone demineralization 31 HP:0006462
8 elevated alkaline phosphatase 31 HP:0003155
9 tibial bowing 31 HP:0002982
10 delayed epiphyseal ossification 31 HP:0002663
11 thin bony cortex 31 HP:0002753
12 fibular bowing 31 HP:0010502
13 rickets of the lower limbs 31 HP:0006463
14 sparse bone trabeculae 31 HP:0002752
15 bulging epiphyses 31 HP:0003013
16 metaphyseal irregularity 31 HP:0003025
17 increased serum 1,25-dihydroxyvitamin d3 31 HP:0003152
18 knee pain 31 HP:0030839

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
genu valgum
genu varum
generalized bone demineralization
bowing of the legs
thin bony cortex
more
Skin Nails Hair Hair:
alopecia (in 1 patient)
no alopecia (in one family with >200 affected individuals)

Laboratory Abnormalities:
increased serum 1,25-dihydroxyvitamin d3
increased alkaline phosphatase
low to normal serum calcium
may have increased serum parathyroid hormone (pth)

Clinical features from OMIM:

600785

UMLS symptoms related to Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor:


knee pain

Drugs & Therapeutics for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Search Clinical Trials , NIH Clinical Center for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor

Genetic Tests for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Anatomical Context for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

MalaCards organs/tissues related to Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor:

40
Bone, Cortex

Publications for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Articles related to Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor:

(showing 5, show less)
# Title Authors PMID Year
1
Functional characterization of heterogeneous nuclear ribonuclear protein C1/C2 in vitamin D resistance: a novel response element-binding protein. 56
17071612 2006
2
Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance. 56
12716975 2003
3
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. 56
7586652 1995
4
Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. 56
8287584 1993
5
Genetic Causes of Rickets. 61
29280738 2017

Variations for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Expression for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Search GEO for disease gene expression data for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D Receptor.

Pathways for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

GO Terms for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

Sources for Vitamin D-Dependent Rickets, Type 2b, with Normal Vitamin D...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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