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XLHR
MCID: HYP609
MIFTS: 60
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Hypophosphatemic Rickets, X-Linked Dominant (XLHR)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hypophosphatemic Rickets, X-Linked Dominant:
Characteristics:Orphanet epidemiological data:59
x-linked hypophosphatemia
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy; OMIM:57
Miscellaneous:
highly variable phenotype onset by 1 year of age in general, men have more severe disease than women see also autosomal dominant hypophosphatemic rickets
Inheritance:
x-linked dominant HPO:32
hypophosphatemic rickets, x-linked dominant:
Onset and clinical course phenotypic variability Inheritance x-linked dominant inheritance GeneReviews:24
Penetrance
Despite a wide degree of clinical variability in xlh, penetrance is often said to be 100% by age one year [sabbagh et al 2014]. there is no known difference between penetrance in males and females...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Bone diseases Endocrine diseases
ICD10:
34
Orphanet: 59
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
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. XLH is caused by mutations in the PHEX gene on the X chromosome, and inheritance is X-linked dominant. 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. The long-term outlook varies depending on severity and whether complications arise. While some adults with XLH may have minimal medical problems, others may experience persistant discomfort or complications.
MalaCards based summary : Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to hereditary hypophosphatemic rickets and hypophosphatemic rickets, autosomal dominant, and has symptoms including arthralgia 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/superpathways are Parathyroid hormone synthesis, secretion and action and Osteoblast Signaling. The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and kidney, and related phenotypes are joint dislocation and osteoarthritis Disease Ontology : 12 A rickets 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 : 57 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009). (307800) UniProtKB/Swiss-Prot : 75 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...
GeneReviews:
NBK83985
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:307800Human phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:59 32 (show all 36)
UMLS symptoms related to Hypophosphatemic Rickets, X-Linked Dominant:arthralgia, bone pain MGI Mouse Phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:46
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Drugs for Hypophosphatemic Rickets, X-Linked Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 36)
Interventional clinical trials:(show all 28)
Cochrane evidence based reviews: familial hypophosphatemic rickets |
MalaCards organs/tissues related to Hypophosphatemic Rickets, X-Linked Dominant:41
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:
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Articles related to Hypophosphatemic Rickets, X-Linked Dominant:(show top 50) (show all 131)
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Genes related to Hypophosphatemic Rickets, X-Linked Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:75 (show all 30)
ClinVar genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:6 (show top 50) (show all 312)
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Search
GEO
for disease gene expression data for Hypophosphatemic Rickets, X-Linked Dominant.
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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 21)
Molecular functions related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:
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