HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 34
OrphanetNr:
OMIM Id: 300554
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000117) Renal phosphate wasting 14 / 7739
2
(HPO:0000121) Nephrocalcinosis 57 / 7739
3
(HPO:0000083) Renal insufficiency 232 / 7739
4
(HPO:0002150) Hypercalciuria 45 / 7739
5
(HPO:0012622) Chronic kidney disease 32 / 7739
6
(HPO:0003126) Low-molecular-weight proteinuria 7 / 7739
7
(HPO:0000114) Proximal tubulopathy 18 / 7739
8
(HPO:0000787) Nephrolithiasis 78 / 7739
9
(HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 7 / 7739
10
(HPO:0002752) Sparse bone trabeculae 9 / 7739
11
(HPO:0002748) Rickets 41 / 7739
12
(HPO:0010502) Fibular bowing 8 / 7739
13
(HPO:0004912) Hypophosphatemic rickets 13 / 7739
14
(HPO:0002814) Abnormality of the lower limb 23 / 7739
15
(HPO:0002982) Tibial bowing 36 / 7739
16
(HPO:0002653) Bone pain 75 / 7739
17
(HPO:0002749) Osteomalacia 24 / 7739
18
(HPO:0002757) Recurrent fractures 47 / 7739
19
(HPO:0002980) Femoral bowing 36 / 7739
20
(HPO:0010580) Enlarged epiphyses 14 / 7739
21
(HPO:0002663) Delayed epiphyseal ossification 21 / 7739
22
(HPO:0003020) Enlargement of the wrists 9 / 7739
23
(HPO:0003025) Metaphyseal irregularity 42 / 7739
24
(HPO:0002753) Thin bony cortex 16 / 7739
25
(HPO:0002979) Bowing of the legs 28 / 7739
26
(HPO:0003013) Bulging epiphyses 9 / 7739
27
(HPO:0003029) Enlargement of the ankles 8 / 7739
28
(HPO:0004322) Short stature 1232 / 7739
29
(HPO:0001510) Growth delay 295 / 7739
30
(HPO:0002148) Hypophosphatemia 43 / 7739
31
(HPO:0003812) Phenotypic variability 129 / 7739
32
(OMIM) Curvatures of the femur, tibia, fibula 8 / 7739
33
(OMIM) [DEL]Appropriately increased serum 1,25-dihydroxyvitamin D3 2 / 7739
34
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the ...
Clinical Description OMIM Bolino et al. (1993) reported an Italian family with X-linked recessive hypophosphatemic rickets. Five males presented with rickets or osteomalacia, hypophosphatemia, hypercalciuria, and proteinuria. The patients developed nephrocalcinosis with progressive renal failure in adulthood.

Oudet et ...

Molecular genetics OMIM In affected members of an Italian family with X-linked recessive hypophosphatemic rickets reported by Bolino et al. (1993), Lloyd et al. (1996) identified a mutation in the CLCN5 gene (S244L; 300008.0007).

Oudet et al. (1997) reported ...