VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR

General Information (adopted from Orphanet):

Synonyms, Signs: VDDR2B
Number of Symptoms 31
OrphanetNr:
OMIM Id: 600785
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003165) Elevated circulating parathyroid hormone level Occasional [HPO:probinson] 17 / 7739
2
(HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7 / 7739
3
(HPO:0002970) Genu varum 60 / 7739
4
(HPO:0010580) Enlarged epiphyses 14 / 7739
5
(HPO:0002829) Arthralgia 79 / 7739
6
(HPO:0002979) Bowing of the legs 28 / 7739
7
(HPO:0005059) Arthralgia/arthritis 141 / 7739
8
(HPO:0010502) Fibular bowing 8 / 7739
9
(HPO:0002748) Rickets 41 / 7739
10
(HPO:0002663) Delayed epiphyseal ossification 21 / 7739
11
(HPO:0002857) Genu valgum 144 / 7739
12
(HPO:0003013) Bulging epiphyses 9 / 7739
13
(HPO:0002980) Femoral bowing 36 / 7739
14
(HPO:0002753) Thin bony cortex 16 / 7739
15
(HPO:0002982) Tibial bowing 36 / 7739
16
(HPO:0006462) Generalized bone demineralization 11 / 7739
17
(HPO:0003025) Metaphyseal irregularity 42 / 7739
18
(HPO:0006463) Rickets of the lower limbs 1 / 7739
19
(HPO:0002814) Abnormality of the lower limb 23 / 7739
20
(HPO:0002752) Sparse bone trabeculae 9 / 7739
21
(HPO:0001006) Hypotrichosis 219 / 7739
22
(HPO:0001596) Alopecia rare [HPO:skoehler] 162 / 7739
23
(HPO:0004528) Generalized hypotrichosis 18 / 7739
24
(HPO:0002289) Alopecia universalis 20 / 7739
25
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
26
(OMIM) May have increased serum parathyroid hormone (PTH) 1 / 7739
27
(HPO:0003593) Infantile onset 249 / 7739
28
(OMIM) No alopecia (in one family with >200 affected individuals) 1 / 7739
29
(OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
30
(OMIM) Low to normal serum calcium 2 / 7739
31
(HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM Giraldo et al. (1995) described an extraordinary incidence of vitamin D-dependent rickets type 2 associated with normal vitamin D receptor cDNA sequence in a rural area of the Cauca department in the southwest part of Colombia. More than ...