HYPOPHOSPHATEMIC BONE DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: HBD
Number of Symptoms 8
OrphanetNr:
OMIM Id: 146350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002749) Osteomalacia 24 / 7739
2
(HPO:0002748) Rickets Occasional [HPO:probinson] 41 / 7739
3
(HPO:0002652) Skeletal dysplasia 113 / 7739
4
(HPO:0002979) Bowing of the legs 28 / 7739
5
(HPO:0004322) Short stature 1232 / 7739
6
(HPO:0002148) Hypophosphatemia 43 / 7739
7
(OMIM) Inconsistent signs of rickets or osteomalacia 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 5 patients, Scriver et al. (1977) identified a 'new' disorder characterized clinically by hypophosphatemia, modest shortening of stature, bowing of the lower limbs, and nonrachitic bone changes somewhat resembling metaphyseal chondrodysplasia. Although a defect in renal transport ...
Molecular genetics OMIM Although it has been suggested that HBD may be a 'forme fruste' of autosomal dominant hypophosphatemic rickets (ADHR; 193100) (Econs and McEnery, 1997), the ADHR Consortium (2000) excluded a mutation in the FGF23 gene (605380), which causes ADHR, ...