Hypophosphatemic Rickets, X-Linked Dominant malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases
Aliases & Descriptions for Hypophosphatemic Rickets, X-Linked Dominant:
Orphanet epidemiological data:53
x-linked hypophosphatemic rickets:
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Bone diseases, Endocrine diseases
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 X-linked Hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. The condition is caused by mutations in the PHEX gene on the X chromosome, and is inherited in an X-linked dominant manner. Treatment generally involves supplements of phosphate and high-dose calcitriol (the active form of Vitamin D), and may also include growth hormones, corrective surgery, and dental treatment. With consistent treatment, the long term outlook (prognosis) is typically good, although growth rate may be slow and affected individuals are usually shorter than their peers. Last updated: 5/27/2016
MalaCards based summary: Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemic rickets, is related to hypophosphatemic rickets and rickets, vitamin d-resistant, type iia, and has symptoms including abnormality of dental enamel, abnormality of the metaphyses and bone pain. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked), and among its related pathways are Osteoblast Signaling and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, kidney and spinal cord, and related mouse phenotypes are craniofacial and digestive/alimentary.
Disease Ontology:11 A rickets that results has material basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
OMIM:51 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...
UniProtKB/Swiss-Prot:69 Hypophosphatemic rickets, X-linked dominant: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000.
Wikipedia:70 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...
GeneReviews for NBK83985
Human phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:63 53 (show all 37)
UMLS symptoms related to Hypophosphatemic Rickets, X-Linked Dominant:arthralgia, bone pain
Drugs for Hypophosphatemic Rickets, X-Linked Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 43)
Interventional clinical trials:(show all 26)
Search NIH Clinical Center for Hypophosphatemic Rickets, X-Linked Dominant
MalaCards organs/tissues related to Hypophosphatemic Rickets, X-Linked Dominant:35
Bone, Kidney, Spinal cord
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Hypophosphatemic Rickets, X-Linked Dominant:
MGI Mouse Phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:40 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:69 (show all 30)
Clinvar genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:5 (show all 19)
Search GEO for disease gene expression data for Hypophosphatemic Rickets, X-Linked Dominant.
Pathways related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:
Cellular components related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:
Biological processes related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:(show all 23)
Molecular functions related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet