Hereditary hypophosphatemic rickets with hypercalciuria

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERCALCIURIC RICKETS
HHRH
Number of Symptoms 48
OrphanetNr: 157215
OMIM Id: 241530
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: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0004724) Calcium nephrolithiasis 1 / 7739
2
 (HPO:0000117) Renal phosphate wasting 14 / 7739
3
 (HPO:0002150) Hypercalciuria Very frequent [Orphanet] 45 / 7739
4
 (HPO:0000124) Renal tubular dysfunction 46 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0010537) Wide cranial sutures 21 / 7739
7
 (HPO:0005469) Flat occiput 30 / 7739
8
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
9
 (HPO:0002355) Difficulty walking 61 / 7739
10
 (HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7 / 7739
11
 (HPO:0002979) Bowing of the legs 28 / 7739
12
 (HPO:0010580) Enlarged epiphyses 14 / 7739
13
 (HPO:0002757) Recurrent fractures 47 / 7739
14
 (HPO:0004912) Hypophosphatemic rickets 13 / 7739
15
 (HPO:0000886) Deformed rib cage 6 / 7739
16
 (HPO:0003029) Enlargement of the ankles 8 / 7739
17
 (HPO:0002753) Thin bony cortex 16 / 7739
18
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
19
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
20
 (HPO:0000893) Bulging of the costochondral junction 6 / 7739
21
 (HPO:0002663) Delayed epiphyseal ossification 21 / 7739
22
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
23
 (HPO:0003020) Enlargement of the wrists 9 / 7739
24
 (HPO:0010502) Fibular bowing 8 / 7739
25
 (HPO:0002982) Tibial bowing 36 / 7739
26
 (HPO:0002748) Rickets 41 / 7739
27
 (HPO:0002752) Sparse bone trabeculae 9 / 7739
28
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
29
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
30
 (HPO:0002980) Femoral bowing 36 / 7739
31
 (HPO:0003013) Bulging epiphyses 9 / 7739
32
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
33
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
34
 (HPO:0001508) Failure to thrive 454 / 7739
35
 (HPO:0001510) Growth delay 295 / 7739
36
 (HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 43 / 7739
37
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
38
 (HPO:0003698) Difficulty standing 8 / 7739
39
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
40
 (HPO:0010547) Muscle flaccidity 466 / 7739
41
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
42
 (HPO:0001252) Muscular hypotonia 990 / 7739
43
 (OMIM) Decreased or low-normal serum parathyroid hormone (PTH) 1 / 7739
44
 (OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
45
 (HPO:0003593) Infantile onset 249 / 7739
46
 (OMIM) Normal serum calcium 9 / 7739
47
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
48
 (OMIM) Increased intestinal absorption of phosphate and calcium (normal response to increased serum 1,25-dihydroxyvitamin D3) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM HHRH may be the same disorder as the hypercalciuric rickets reported by Royer et al. (1962) and reviewed by Tieder and Stark (1979). Royer et al. (1962) observed parental consanguinity.

Tieder et al. (1985) reported a ...
Molecular genetics OMIM Jones et al. (2001) excluded mutation in the renal sodium/phosphate transporter NPT2 (182309) gene in affected members of the family reported by Tieder et al. (1985).

Bergwitz et al. (2006) mapped the HHRH phenotype to a ...