Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

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OMIM 57 300554 Disease Ontology 12 DOID:0080353 MedGen 42 C1845168 MeSH 44 D053098

KEGG 37 H02142 H00214 SNOMED-CT via HPO 69 48638002 72239002 5639000 391987005 57219006 84445001 4996001 71938000 111266001 64217002 12584003 41345002 4598005 134291007 5468008 299331007 237836003 66266003 709044004 431855005 431856006 416189003 80400009 more UMLS 73 C1704375 C3536983

NIH Rare Diseases : ⁵³ Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. There are several forms which are distinguished by their genetic cause and pattern of inheritance. Most commonly hypophosphatemic rickets is due to changes in the PHEX gene and inherited in an X-linked dominant manner (X-linked hypophosphatemia). Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Recessive, also known as hypophosphatemic rickets, is related to hereditary hypophosphatemic rickets and hypophosphatemic rickets, x-linked dominant. An important gene associated with Hypophosphatemic Rickets, X-Linked Recessive is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, kidney and cortex, and related phenotypes are pectus excavatum and scoliosis

Disease Ontology : ¹² A rickets that has material basis in mutation in the CLCN5 gene on chromosome Xp11.22.

OMIM : ⁵⁷ X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. (300554)

UniProtKB/Swiss-Prot : ⁷⁵ Hypophosphatemic rickets, X-linked recessive: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only.

Wikipedia : ⁷⁶ X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, or X-linked... more...

Clinical features from OMIM:

300554

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