Hypocalcemic vitamin D-resistant rickets

General Information (adopted from Orphanet):

Synonyms, Signs: VDDR II
VDRR II
HVDRR
Hereditary vitamin D-resistant rickets
Vitamin D-resistant rickets type II
Vitamin D-dependent rickets type II
Number of Symptoms 66
OrphanetNr: 93160
OMIM Id: 277440
600785
ICD-10: E83.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypocalcemic rickets
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Frequent [Orphanet] 78 / 7739
2
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
3
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
 (HPO:0000670) Carious teeth 145 / 7739
5
 (HPO:0006323) Premature loss of primary teeth Frequent [Orphanet] 18 / 7739
6
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
7
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
8
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
9
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
10
 (HPO:0005469) Flat occiput 30 / 7739
11
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
14
 (HPO:0000737) Irritability 93 / 7739
15
 (HPO:0002355) Difficulty walking 61 / 7739
16
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
17
 (HPO:0000843) Hyperparathyroidism Very frequent [Orphanet] 17 / 7739
18
 (HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7 / 7739
19
 (HPO:0000867) Secondary hyperparathyroidism 4 / 7739
20
 (HPO:0002748) Rickets 41 / 7739
21
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
22
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
23
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
24
 (HPO:0010502) Fibular bowing 8 / 7739
25
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
26
 (HPO:0012062) Bone cyst Very frequent [Orphanet] 19 / 7739
27
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
28
 (HPO:0002982) Tibial bowing 36 / 7739
29
 (HPO:0002980) Femoral bowing 36 / 7739
30
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
31
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
32
 (HPO:0003029) Enlargement of the ankles 8 / 7739
33
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
34
 (HPO:0003020) Enlargement of the wrists 9 / 7739
35
 (HPO:0003106) Subperiosteal erosions due to secondary hyperparathyroidism 4 / 7739
36
 (HPO:0002757) Recurrent fractures 47 / 7739
37
 (HPO:0000886) Deformed rib cage 6 / 7739
38
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
39
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
40
 (HPO:0003013) Bulging epiphyses 9 / 7739
41
 (HPO:0002753) Thin bony cortex 16 / 7739
42
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
43
 (HPO:0000893) Bulging of the costochondral junction 6 / 7739
44
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
45
 (HPO:0001367) Abnormal joint morphology Very frequent [Orphanet] 53 / 7739
46
 (HPO:0002979) Bowing of the legs 28 / 7739
47
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
48
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
49
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
50
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
51
 (HPO:0001538) Protuberant abdomen 36 / 7739
52
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
53
 (HPO:0001508) Failure to thrive 454 / 7739
54
 (HPO:0001510) Growth delay 295 / 7739
55
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
56
 (HPO:0002289) Alopecia universalis 20 / 7739
57
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
58
 (HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
59
 (HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
60
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
61
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
62
 (HPO:0003698) Difficulty standing 8 / 7739
63
 (HPO:0001252) Muscular hypotonia 990 / 7739
64
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
65
 (HPO:0003593) Infantile onset 249 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: