VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

General Information (adopted from Orphanet):

Synonyms, Signs: PDDR1A
-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
1-&#64
ALPHA-HYDROXYLASE DEFICIENCY
25-&#64
HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY
PDDR IA
VITAMIN D-DEPENDENT RICKETS, TYPE 1A
VITAMIN D DEPENDENCY, TYPE 1
PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
VDDR1A
VDD1
1&#64
Number of Symptoms 43
OrphanetNr:
OMIM Id: 264700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002909) Generalized aminoaciduria 13 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0005469) Flat occiput 30 / 7739
4
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
5
 (HPO:0010537) Wide cranial sutures 21 / 7739
6
 (HPO:0002007) Frontal bossing 366 / 7739
7
 (HPO:0002355) Difficulty walking 61 / 7739
8
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
9
 (HPO:0000737) Irritability 93 / 7739
10
 (HPO:0001270) Motor delay 322 / 7739
11
 (HPO:0000867) Secondary hyperparathyroidism 4 / 7739
12
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
13
 (HPO:0002748) Rickets 41 / 7739
14
 (HPO:0002757) Recurrent fractures 47 / 7739
15
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
16
 (HPO:0003029) Enlargement of the ankles 8 / 7739
17
 (HPO:0000886) Deformed rib cage 6 / 7739
18
 (HPO:0002979) Bowing of the legs 28 / 7739
19
 (HPO:0002753) Thin bony cortex 16 / 7739
20
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
21
 (HPO:0002653) Bone pain 75 / 7739
22
 (HPO:0000893) Bulging of the costochondral junction 6 / 7739
23
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
24
 (HPO:0010580) Enlarged epiphyses 14 / 7739
25
 (HPO:0003106) Subperiosteal erosions due to secondary hyperparathyroidism 4 / 7739
26
 (HPO:0003020) Enlargement of the wrists 9 / 7739
27
 (HPO:0003013) Bulging epiphyses 9 / 7739
28
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
29
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
30
 (HPO:0001510) Growth delay 295 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
33
 (HPO:0002901) Hypocalcemia 56 / 7739
34
 (HPO:0002148) Hypophosphatemia 43 / 7739
35
 (HPO:0010547) Muscle flaccidity 466 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
38
 (HPO:0001252) Muscular hypotonia 990 / 7739
39
 (HPO:0003698) Difficulty standing 8 / 7739
40
 (OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
41
 (OMIM) Normal serum 25-hydroxyvitamin D3 1 / 7739
42
 (OMIM) Protuberant abdomen due to muscle weakness 2 / 7739
43
 (OMIM) Markedly decreased or absent serum 1,25-dihydroxyvitamin D3 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of ...
Clinical Description OMIM Kitanaka et al. (1998) reported 4 unrelated Japanese patients with vitamin D-dependent rickets confirmed by genetic analysis. All presented by age 2 years with inability to walk, bone deformities, or seizures. One showed poor growth as an infant. ...
Molecular genetics OMIM In 4 unrelated Japanese patients with VDDR1A, Kitanaka et al. (1998) identified 4 different homozygous mutations in the CYP27B1 gene (609506.0001-609506.0004). Two of the patients were born of consanguineous parents.
Population genetics OMIM Bouchard et al. (1985) reported that vitamin D-dependent rickets is unusually frequent in French Canadians in the Saguenay region of Quebec, where the estimated gene frequency is 0.02.

De Braekeleer (1991) estimated the prevalence at birth ...