VITAMIN D-DEPENDENT RICKETS, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
RICKETS, HEREDITARY VITAMIN D-RESISTANT
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
VDDR2A
VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA
RICKETS-ALOPECIA SYNDROME
PDDR IIA
PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA
GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
HVDRR
Number of Symptoms 51
OrphanetNr:
OMIM Id: 277440
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:0000684) Delayed eruption of teeth 117 / 7739
2
 (HPO:0010537) Wide cranial sutures 21 / 7739
3
 (HPO:0002007) Frontal bossing 366 / 7739
4
 (HPO:0005469) Flat occiput 30 / 7739
5
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0000737) Irritability 93 / 7739
8
 (HPO:0002355) Difficulty walking 61 / 7739
9
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
10
 (HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7 / 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:0000893) Bulging of the costochondral junction 6 / 7739
15
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
16
 (HPO:0002753) Thin bony cortex 16 / 7739
17
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
18
 (HPO:0000886) Deformed rib cage 6 / 7739
19
 (HPO:0002757) Recurrent fractures 47 / 7739
20
 (HPO:0002653) Bone pain 75 / 7739
21
 (HPO:0003013) Bulging epiphyses 9 / 7739
22
 (HPO:0010580) Enlarged epiphyses 14 / 7739
23
 (HPO:0003106) Subperiosteal erosions due to secondary hyperparathyroidism 4 / 7739
24
 (HPO:0003020) Enlargement of the wrists 9 / 7739
25
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
26
 (HPO:0002979) Bowing of the legs 28 / 7739
27
 (HPO:0003029) Enlargement of the ankles 8 / 7739
28
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
29
 (HPO:0001510) Growth delay 295 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
32
 (HPO:0002148) Hypophosphatemia 43 / 7739
33
 (HPO:0002901) Hypocalcemia 56 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0010547) Muscle flaccidity 466 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0003698) Difficulty standing 8 / 7739
38
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
39
 (OMIM) Protuberant abdomen due to muscle weakness 2 / 7739
40
 (OMIM) Absence of normal hair follicles 1 / 7739
41
 (OMIM) Resistance to 1,25-dihydroxyvitamin D3 1 / 7739
42
 (OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
43
 (OMIM) Cutaneous 0.5 to 1.0 cm bluish and flesh-colored papules (rarely reported) 1 / 7739
44
 (OMIM) Cutaneous cysts 1 / 7739
45
 (OMIM) Dental caries by age 2 years 1 / 7739
46
 (OMIM) Eyelashes may be spared 1 / 7739
47
 (OMIM) Follicular remnants in cysts 1 / 7739
48
 (OMIM) Cysts are similar to those seen in 'atrichia with papular lesions' (209500) 1 / 7739
49
 (OMIM) Alopecia, complete, in approximately 75% of patients 1 / 7739
50
 (OMIM) Alopecia appears within 12 months of age and is permanent 1 / 7739
51
 (OMIM) Deafness, sensorineural, mild (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. ...
Clinical Description OMIM Brooks et al. (1978) reported a 22-year-old African American woman with hypocalcemia, secondary hyperparathyroidism, osteomalacia, and osteitis fibrosa cystica in association with normal serum 25-hydroxyvitamin D and markedly increased serum 1,25-dihydroxyvitamin D. The patient also had increased serum ...
Genotype-Phenotype Correlations OMIM Arita et al. (2008) tabulated mutations reported to date in the VDR gene (see Figure 2, Arita et al., 2008) and noted that almost all have been found within the DNA-binding domain (DBA) and the ligand-binding domain (LBD). ...
Molecular genetics OMIM In 2 unrelated patients with end-organ resistance to 1,25-dihydroxyvitamin D3, Hughes et al. (1988) identified 2 different mutations in the vitamin D receptor gene (601769.0001; 601769.0002). Hughes et al. (1988) suggested that this was the first molecular identification ...