eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal recessive hypophosphatemic rickets | ||||
| Disease ID | 1027 |
|---|---|
| Disease | autosomal recessive hypophosphatemic rickets |
| Synonym | arhp arhr arhr1 autosomal hypophosphataemic bone disease autosomal hypophosphatemic bone disease autosomal recessive hypophosphataemic rickets autosomal recessive hypophosphataemic vitamin d refractory rickets autosomal recessive hypophosphatemic vitamin d refractory rickets autosomal recessive hypophosphatemic vitamin d refractory rickets (disorder) hypophosphatemia, autosomal recessive hypophosphatemic rickets, autosomal recessive, 1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0342643 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 197 | AHSG | 1.339 | DISEASES 633 | BGN | 1.878 | DISEASES 9635 | CLCA2 | 2.695 | DISEASES 22802 | CLCA4 | 2.793 | DISEASES 22943 | DKK1 | 1.554 | DISEASES 1758 | DMP1 | 4.409 | DISEASES 5167 | ENPP1 | 4.764 | DISEASES 54757 | FAM20A | 3.285 | DISEASES 56975 | FAM20C | 2.976 | DISEASES 2591 | GALNT3 | 2.892 | DISEASES 56955 | MEPE | 4.42 | DISEASES 5251 | PHEX | 5.287 | DISEASES 5261 | PHKG2 | 3.523 | DISEASES 142680 | SLC34A3 | 2.657 | DISEASES 6657 | SOX2 | 1.063 | DISEASES 6696 | SPP1 | 1.661 | DISEASES 51592 | TRIM33 | 2.78 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1027 |
|---|---|
| Disease | autosomal recessive hypophosphatemic rickets |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0003109 | Hyperphosphaturia HP:0004576 | Sclerotic vertebral endplates HP:0012052 | Low serum calcitriol HP:0002653 | Bone pain HP:0004322 | Short stature HP:0100671 | Abnormal trabecular bone morphology HP:0002982 | Tibial bowing HP:0030757 | Tooth abscess HP:0002970 | Genu varum HP:0002652 | Skeletal dysplasia HP:0006463 | Rickets of the lower limbs HP:0005764 | Polyarticular arthritis HP:0000684 | Delayed eruption of teeth HP:0008732 | Renal hypophosphatemia HP:0100686 | Enthesitis HP:0010639 | Elevated alkaline phosphatase of bone origin HP:0000407 | Sensorineural hearing impairment HP:0005096 | Distal femoral bowing HP:0002024 | Malabsorption HP:0001510 | Growth delay HP:0000117 | Renal phosphate wasting HP:0100781 | Abnormality of the sacroiliac joint HP:0001250 | Seizures HP:0011001 | Increased bone mineral density HP:0011036 | Abnormality of renal excretion HP:0100511 | Abnormality of vitamin D metabolism HP:0003472 | Hypocalcemic tetany HP:0100036 | Pseudo-fractures HP:0002814 | Abnormality of the lower limb HP:0003416 | Spinal canal stenosis HP:0002812 | Coxa vara HP:0001363 | Craniosynostosis HP:0001324 | Muscle weakness HP:0003020 | Enlargement of the wrists HP:0100559 | Lower limb asymmetry HP:0004912 | Hypophosphatemic rickets HP:0002749 | Osteomalacia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1027 |
|---|---|
| Disease | autosomal recessive hypophosphatemic rickets |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893834 | NA | 1758 | DMP1 | umls:C0342643 | CLINVAR | NA | 0.322985861 | NA | DMP1 | 4 | 87656493 | A | G |
| rs587776696 | NA | 1758 | DMP1 | umls:C0342643 | CLINVAR | NA | 0.322985861 | NA | DMP1;LOC105377323 | 4 | 87662140 | C | - |
| rs587776697 | NA | 1758 | DMP1 | umls:C0342643 | CLINVAR | NA | 0.322985861 | NA | DMP1;LOC105377323 | 4 | 87657031 | G | C |
| rs587776698 | NA | 1758 | DMP1 | umls:C0342643 | CLINVAR | NA | 0.322985861 | NA | DMP1;LOC105377323 | 4 | 87663263 | CTATCAC | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| 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:0003020 | Enlargement of the wrists | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0100671 | Abnormal trabecular bone morphology | MP:0010878 | increased trabecular bone volume | increase in the amount of space occupied by trabecular bone tissue in the skeleton |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| 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:0100559 | Lower limb asymmetry | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| HP:0006463 | Rickets of the lower limbs | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0008304 | abnormal organ of Corti supporting cell differentiation | atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0005764 | Polyarticular arthritis | MP:0002993 | arthritis | autoimmune joint inflammation, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| 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:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004576 | Sclerotic vertebral endplates | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001250 | Seizures | 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: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:0005096 | Distal femoral bowing | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010639 | Elevated alkaline phosphatase of bone origin | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0100781 | Abnormality of the sacroiliac joint | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000407 | Sensorineural hearing impairment | 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:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000117 | Renal phosphate wasting | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100686 | Enthesitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006463 | Rickets of the lower limbs | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0100671 | Abnormal trabecular bone morphology | MP:0010967 | increased compact bone area | increase in the total amount of cross-sectional area of compact bone tissue |
| 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:0005764 | Polyarticular arthritis | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0003020 | Enlargement of the wrists | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100559 | Lower limb asymmetry | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002812 | Coxa vara | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003472 | Hypocalcemic tetany | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002749 | Osteomalacia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012052 | Low serum calcitriol (1,25-dihydroxycholecalciferol) | 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 |
| Disease ID | 1027 |
|---|---|
| Disease | autosomal recessive hypophosphatemic rickets |
| Case | (Waiting for update.) |