HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT

HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT

http://purl.bioontology.org/ontology/OMIM/193100

HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT

ADHR

VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT

C0342642

12p13.3

FGF23

HPDR2

HFTC2

PHPTC

ADHR

http://purl.bioontology.org/ontology/OMIM/MTHU006653

http://purl.bioontology.org/ontology/OMIM/MTHU041655

http://purl.bioontology.org/ontology/OMIM/MTHU007494

http://purl.bioontology.org/ontology/OMIM/MTHU015040

http://purl.bioontology.org/ontology/OMIM/MTHU015046

http://purl.bioontology.org/ontology/OMIM/MTHU007357

http://purl.bioontology.org/ontology/OMIM/MTHU015042

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU015043

http://purl.bioontology.org/ontology/OMIM/MTHU015041

http://purl.bioontology.org/ontology/OMIM/MTHU041656

http://purl.bioontology.org/ontology/OMIM/MTHU005592

http://purl.bioontology.org/ontology/OMIM/MTHU015047

http://purl.bioontology.org/ontology/OMIM/MTHU007493

http://purl.bioontology.org/ontology/OMIM/MTHU015045

http://purl.bioontology.org/ontology/OMIM/MTHU007511

Phenotype description, molecular basis known.

193100

3

pound

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT

Two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0001) [MOLECULAR BASIS]

Highly variable phenotype [MISCELLANEOUS]

Rarely, patients with childhood-onset may lose the renal phosphate-wasting defect [MISCELLANEOUS]

Treatment with vitamin D and phosphate is effective [MISCELLANEOUS]

Similar phenotype to X-linked hypophosphatemia (XLH, 307800) [MISCELLANEOUS]

T047