Hypophosphatemic rickets

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 437
OMIM Id:
ICD-10: E83.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorders of vitamin D metabolism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
2
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
3
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
4
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
5
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
6
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
7
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
8
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
9
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: