VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B

General Information (adopted from Orphanet):

Synonyms, Signs: 25-&#64
HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
VITAMIN D-DEPENDENT RICKETS, TYPE 1B
VDDR1B
PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
Number of Symptoms 40
OrphanetNr:
OMIM Id: 600081
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0005469) Flat occiput 30 / 7739
2
 (HPO:0002007) Frontal bossing 366 / 7739
3
 (HPO:0010537) Wide cranial sutures 21 / 7739
4
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
5
 (HPO:0002355) Difficulty walking 61 / 7739
6
 (HPO:0003020) Enlargement of the wrists 9 / 7739
7
 (HPO:0003013) Bulging epiphyses 9 / 7739
8
 (HPO:0003029) Enlargement of the ankles 8 / 7739
9
 (HPO:0000893) Bulging of the costochondral junction 6 / 7739
10
 (HPO:0002982) Tibial bowing 36 / 7739
11
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
12
 (HPO:0010580) Enlarged epiphyses 14 / 7739
13
 (HPO:0002980) Femoral bowing 36 / 7739
14
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
15
 (HPO:0002748) Rickets 41 / 7739
16
 (HPO:0002653) Bone pain 75 / 7739
17
 (HPO:0002979) Bowing of the legs 28 / 7739
18
 (HPO:0000886) Deformed rib cage 6 / 7739
19
 (HPO:0010502) Fibular bowing 8 / 7739
20
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
21
 (HPO:0002757) Recurrent fractures 47 / 7739
22
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
23
 (HPO:0002753) Thin bony cortex 16 / 7739
24
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
25
 (HPO:0001508) Failure to thrive 454 / 7739
26
 (HPO:0001510) Growth delay 295 / 7739
27
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
28
 (HPO:0002148) Hypophosphatemia 43 / 7739
29
 (HPO:0003698) Difficulty standing 8 / 7739
30
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
31
 (HPO:0010547) Muscle flaccidity 466 / 7739
32
 (HPO:0001324) Muscle weakness 859 / 7739
33
 (HPO:0001252) Muscular hypotonia 990 / 7739
34
 (OMIM) Decreased serum 25-hydroxyvitamin D 1 / 7739
35
 (OMIM) Enlargement and bulging of the costochondral junction 1 / 7739
36
 (HPO:0003593) Infantile onset 249 / 7739
37
 (OMIM) Normal serum 1,25-dihydroxyvitamin D3 1 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
40
 (OMIM) Low to normal serum calcium 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Casella et al. (1994) described 2 brothers of Nigerian descent who had rickets at a young age despite a history of adequate vitamin D intake. The patient had bone abnormalities of the legs appearing between 2 and 7 ...
Molecular genetics OMIM In one of the patients described by Casella et al. (1994), Cheng et al. (2004) identified a homozygous mutation in the CYP2R1 gene (608713.0001).