eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant hypophosphatemic rickets | ||||
| Disease ID | 733 |
|---|---|
| Disease | autosomal dominant hypophosphatemic rickets |
| Definition | Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D.[citation needed] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.[citation needed] - Wikipedia Reference: https://en.wikipedia.org/wiki/autosomal dominant hypophosphatemic rickets |
| Synonym | adhr autosomal dominant hypophosphataemic rickets autosomal dominant hypophosphatemic rickets (disorder) hypophosphatemia, autosomal dominant hypophosphatemic rickets, autosomal dominant vitamin d-resistant rickets, autosomal dominant |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0342642 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 846 | CASR | 1.515 | DISEASES 9635 | CLCA2 | 2.131 | DISEASES 22802 | CLCA4 | 2.229 | DISEASES 1758 | DMP1 | 3.801 | DISEASES 5167 | ENPP1 | 2.984 | DISEASES 56975 | FAM20C | 2.323 | DISEASES 2253 | FGF8 | 1.499 | DISEASES 2263 | FGFR2 | 1.579 | DISEASES 2591 | GALNT3 | 4.41 | DISEASES 9807 | IP6K1 | 3.15 | DISEASES 51447 | IP6K2 | 3.167 | DISEASES 9365 | KL | 3.362 | DISEASES 56955 | MEPE | 5.017 | DISEASES 5078 | PAX4 | 1.724 | DISEASES 5125 | PCSK5 | 1.405 | DISEASES 5251 | PHEX | 5.865 | DISEASES 6424 | SFRP4 | 4.464 | DISEASES 6575 | SLC20A2 | 2.08 | DISEASES 6569 | SLC34A1 | 3.809 | DISEASES 142680 | SLC34A3 | 4.613 | DISEASES 10252 | SPRY1 | 1.892 | DISEASES 7421 | VDR | 1.101 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FGF23 | 12p13.32 |
| Disease ID | 733 |
|---|---|
| Disease | autosomal dominant hypophosphatemic rickets |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0001635 | Congestive heart failure HP:0001637 | Abnormality of the myocardium HP:0000117 | Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate HP:0003109 | Hyperphosphaturia HP:0004322 | Stature below 3rd percentile HP:0002814 | Abnormality of the leg HP:0001324 | Muscle weakness HP:0003416 | Spinal canal stenosis HP:0002653 | Bone pain HP:0004322 | Short stature HP:0002757 | Recurrent fractures HP:0003155 | Hyperphosphatasia HP:0003324 | Muscle weakness, diffuse HP:0012378 | Fatigue HP:0002086 | Abnormality of the respiratory system HP:0000164 | Abnormality of the teeth HP:0004912 | Hypophosphatemic rickets HP:0002148 | Hypophosphatemia HP:0002749 | Osteomalacia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 733 |
|---|---|
| Disease | autosomal dominant hypophosphatemic rickets |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894347 | NA | 8074 | FGF23 | umls:C0342642 | CLINVAR | NA | 0.569500466 | NA | FGF23 | 12 | 4370572 | C | T |
| rs104894347 | 12519781 | 8074 | FGF23 | umls:C0342642 | BeFree | The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. | 0.569500466 | 2003 | FGF23 | 12 | 4370572 | C | T |
| rs193922701 | NA | 8074 | FGF23 | umls:C0342642 | CLINVAR | NA | 0.569500466 | NA | FGF23 | 12 | 4379421 | C | G |
| rs193922702 | 11409890 | 8074 | FGF23 | umls:C0342642 | BeFree | Recent evidence that FGF-23 is expressed in mesenchymal tumors associated with OOM suggests that FGF-23 is responsible for the phosphaturic activity previously termed phosphatonin. Here we show that both wild-type FGF-23 and the ADHR mutant, FGF-23(R179Q), inhibit phosphate uptake in renal epithelial cells. | 0.569500466 | 2001 | FGF23 | 12 | 4370563 | C | T |
| rs193922702 | NA | 8074 | FGF23 | umls:C0342642 | CLINVAR | NA | 0.569500466 | NA | FGF23 | 12 | 4370563 | C | T |
| rs28937882 | 11062477 | 8074 | FGF23 | umls:C0342642 | UNIPROT | Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. | 0.569500466 | 2000 | FGF23 | 12 | 4370564 | G | T,A |
| rs28937882 | NA | 8074 | FGF23 | umls:C0342642 | CLINVAR | NA | 0.569500466 | NA | FGF23 | 12 | 4370564 | G | T,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004912 | Hypophosphatemic rickets | MP:0003116 | rickets | overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0003324 | Generalized muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0000117 | Renal phosphate wasting | MP:0010110 | abnormal renal phosphate reabsorbtion | any anomaly in the process by which phosphate (salt or ester of phosphoric acid) is transported out of the renal tubules back into the bloodstream |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0002814 | Abnormality of the lower limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0003416 | Spinal canal stenosis | MP:0010884 | esophagus stenosis | abnormal narrowing or constriction of the esophagus |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0003155 | Elevated alkaline phosphatase | MP:0011584 | increased alkaline phosphatase activity | greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004912 | Hypophosphatemic rickets | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002148 | Hypophosphatemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003155 | Elevated alkaline phosphatase | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000117 | Renal phosphate wasting | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003324 | Generalized muscle weakness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003109 | Hyperphosphaturia | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0002749 | Osteomalacia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002814 | Abnormality of the lower limb | MP:0013616 | decreased volumetric bone mineral density | reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 733 |
|---|---|
| Disease | autosomal dominant hypophosphatemic rickets |
| Case | (Waiting for update.) |