Hypocalcemic vitamin D-dependent rickets

General Information (adopted from Orphanet):

Synonyms, Signs: VDDR-I
VDDI
PDDRI
Vitamin D dependent rickets type I
1-alpha-hydroxylase deficiency
Pseudovitamin D-deficient rickets
Vitamin D-dependency type I
Number of Symptoms 39
OrphanetNr: 289157
OMIM Id: 264700
600081
ICD-10: E55.0
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:0002909) Generalized aminoaciduria 13 / 7739
2
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
3
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
6
 (HPO:0005469) Flat occiput 30 / 7739
7
 (HPO:0002355) Difficulty walking 61 / 7739
8
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
9
 (HPO:0001270) Motor delay 322 / 7739
10
 (HPO:0000737) Irritability 93 / 7739
11
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
12
 (HPO:0000867) Secondary hyperparathyroidism 4 / 7739
13
 (HPO:0002653) Bone pain 75 / 7739
14
 (HPO:0002753) Thin bony cortex 16 / 7739
15
 (HPO:0003106) Subperiosteal erosions due to secondary hyperparathyroidism 4 / 7739
16
 (HPO:0002757) Recurrent fractures 47 / 7739
17
 (HPO:0000886) Deformed rib cage 6 / 7739
18
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
19
 (HPO:0002748) Rickets 41 / 7739
20
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
21
 (HPO:0003029) Enlargement of the ankles 8 / 7739
22
 (HPO:0002980) Femoral bowing 36 / 7739
23
 (HPO:0010502) Fibular bowing 8 / 7739
24
 (HPO:0003013) Bulging epiphyses 9 / 7739
25
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
26
 (HPO:0002982) Tibial bowing 36 / 7739
27
 (HPO:0003020) Enlargement of the wrists 9 / 7739
28
 (HPO:0002979) Bowing of the legs 28 / 7739
29
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
30
 (HPO:0000893) Bulging of the costochondral junction 6 / 7739
31
 (HPO:0001538) Protuberant abdomen 36 / 7739
32
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0001508) Failure to thrive 454 / 7739
35
 (HPO:0002148) Hypophosphatemia 43 / 7739
36
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
37
 (HPO:0001252) Muscular hypotonia 990 / 7739
38
 (HPO:0003698) Difficulty standing 8 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: