eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dent disease | ||||
| Disease ID | 821 |
|---|---|
| Disease | dent disease |
| Definition | X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. |
| Synonym | dent disease [disease/finding] dent's disease dent's disease (disorder) dents disease disease, dent disease, dent's disease, dents |
| Orphanet | |
| DOID | |
| UMLS | C0878681 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0015624 | fanconi syndrome | 2 C0021359 | infertility | 1 C0162283 | nephrogenic diabetes insipidus | 1 C0856761 | budd-chiari syndrome | 1 C0033687 | proteinuria | 1 C0027709 | nephrocalcinosis | 1 C0020538 | hypertension | 1 C0014175 | endometriosis | 1 C0010346 | crohn's disease | 1 C0035078 | renal failure | 1 C0948265 | metabolic syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:49) 55811 | ADCY10 | 2.677 | DISEASES 212 | ALAS2 | 1.463 | DISEASES 337 | APOA4 | 1.175 | DISEASES 353 | APRT | 1.598 | DISEASES 567 | B2M | 2.429 | DISEASES 7809 | BSND | 3.549 | DISEASES 846 | CASR | 1.685 | DISEASES 875 | CBS | 2.492 | DISEASES 1180 | CLCN1 | 3.66 | DISEASES 1183 | CLCN4 | 5.631 | DISEASES 1184 | CLCN5 | 8.299 | DISEASES 1186 | CLCN7 | 4.194 | DISEASES 1187 | CLCNKA | 4.579 | DISEASES 1188 | CLCNKB | 4.29 | DISEASES 1195 | CLK1 | 2.9 | DISEASES 8029 | CUBN | 5.205 | DISEASES 2132 | EXT2 | 1.171 | DISEASES 144717 | FAM109A | 3.907 | DISEASES 3633 | INPP5B | 4.294 | DISEASES 56623 | INPP5E | 2.57 | DISEASES 3758 | KCNJ1 | 3.881 | DISEASES 8242 | KDM5C | 1.783 | DISEASES 9371 | KIF3B | 2.713 | DISEASES 3949 | LDLR | 1.159 | DISEASES 22919 | MAPRE1 | 2.538 | DISEASES 10724 | MGEA5 | 1.082 | DISEASES 4514 | MT-CO3 | 1.09 | DISEASES 23327 | NEDD4L | 1.413 | DISEASES 4952 | OCRL | 6.62 | DISEASES 5251 | PHEX | 1.16 | DISEASES 5284 | PIGR | 1.502 | DISEASES 5867 | RAB4A | 2.672 | DISEASES 6338 | SCNN1B | 1.801 | DISEASES 6557 | SLC12A1 | 3.837 | DISEASES 6559 | SLC12A3 | 2.655 | DISEASES 9990 | SLC12A6 | 1.975 | DISEASES 6569 | SLC34A1 | 1.842 | DISEASES 142680 | SLC34A3 | 3.603 | DISEASES 10479 | SLC9A6 | 1.914 | DISEASES 84679 | SLC9A7 | 2.167 | DISEASES 133308 | SLC9B2 | 2.923 | DISEASES 51429 | SNX9 | 2.147 | DISEASES 54466 | SPIN2A | 3.847 | DISEASES 10250 | SRRM1 | 2.027 | DISEASES 7018 | TF | 1.74 | DISEASES 57393 | TMEM27 | 3.225 | DISEASES 140803 | TRPM6 | 1.68 | DISEASES 55503 | TRPV6 | 1.431 | DISEASES 11060 | WWP2 | 3.175 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 821 |
|---|---|
| Disease | dent disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:40) HP:0003109 | Hyperphosphaturia HP:0000114 | Proximal tubulopathy HP:0002748 | Rickets HP:0000787 | Nephrolithiasis HP:0000518 | Cataract HP:0003025 | Metaphyseal irregularity HP:0002653 | Bone pain HP:0002663 | Delayed epiphyseal ossification HP:0002027 | Abdominal pain HP:0003149 | Hyperuricosuria HP:0003013 | Bulging epiphyses HP:0002979 | Bowing of the legs HP:0000093 | Proteinuria HP:0000083 | Renal insufficiency HP:0005574 | Non-acidotic proximal tubulopathy HP:0005576 | Tubulointerstitial fibrosis HP:0003236 | Elevated serum creatine phosphokinase HP:0008732 | Renal hypophosphatemia HP:0000790 | Hematuria HP:0012622 | Chronic kidney disease HP:0010580 | Enlarged epiphyses HP:0000117 | Renal phosphate wasting HP:0001256 | Intellectual disability, mild HP:0000092 | Tubular atrophy HP:0002150 | Hypercalciuria HP:0003126 | Low-molecular-weight proteinuria HP:0000121 | Nephrocalcinosis HP:0011342 | Mild global developmental delay HP:0000097 | Focal segmental glomerulosclerosis HP:0002757 | Recurrent fractures HP:0002814 | Abnormality of the lower limb HP:0003355 | Aminoaciduria HP:0003076 | Glycosuria HP:0002752 | Sparse bone trabeculae HP:0002753 | Thin bony cortex HP:0003020 | Enlargement of the wrists HP:0003152 | Increased serum 1,25-dihydroxyvitamin D3 HP:0001252 | Muscular hypotonia HP:0002749 | Osteomalacia HP:0003029 | Enlargement of the ankles |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0012531 | Pain | 2 HP:0002150 | Hypercalcinuria | 2 HP:0002901 | Hypocalcemia | 1 HP:0000103 | Polyuria | 1 HP:0100280 | Morbus Crohn | 1 HP:0000789 | Infertility | 1 HP:0000121 | Nephrocalcinosis | 1 HP:0001510 | Growth deficiency | 1 HP:0012245 | Sex reversal | 1 HP:0003126 | Tubular proteinuria | 1 HP:0000093 | Proteinuria | 1 HP:0012532 | Chronic pain | 1 HP:0003159 | Hyperoxaluria | 1 HP:0000124 | Renal tubular defect | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0030127 | Endometriosis | 1 HP:0100828 | Increase in T cell number | 1 HP:0000083 | Renal insufficiency | 1 HP:0000822 | Hypertension | 1 HP:0009806 | Nephrogenic diabetes insipidus | 1 |
| Disease ID | 821 |
|---|---|
| Disease | dent disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005574 | Non-acidotic proximal tubulopathy | MP:0004756 | abnormal proximal convoluted tubule morphology | any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule |
| 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:0005576 | Tubulointerstitial fibrosis | MP:0011377 | renal glomerulus fibrosis | formation of fibrous tissue in the renal glomerulus as a result of repair or a reactive process |
| HP:0012622 | Chronic kidney disease | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0005264 | glomerulosclerosis | hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| 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:0002979 | Bowing of the legs | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002753 | Thin bony cortex | MP:0009969 | abnormal cerebral cortex pyramidal cell morphology | any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex |
| HP:0003029 | Enlargement of the ankles | 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:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000092 | Tubular atrophy | MP:0011363 | renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfu |
| HP:0002752 | Sparse bone trabeculae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002663 | Delayed epiphyseal ossification | MP:0008271 | abnormal bone ossification | any anomaly 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:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:39) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003152 | Increased serum 1,25-dihydroxyvitamin D3 | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0001252 | Muscular hypotonia | 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:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002979 | Bowing of the legs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0010580 | Enlarged epiphyses | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| 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:0000092 | Tubular atrophy | 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:0003025 | Metaphyseal irregularity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003149 | Hyperuricosuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003013 | Bulging epiphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011342 | Mild global developmental delay | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000518 | Cataract | 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:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000117 | Renal phosphate wasting | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003029 | Enlargement of the ankles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003076 | Glycosuria | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000121 | Nephrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000114 | Proximal tubulopathy | 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:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003020 | Enlargement of the wrists | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005574 | Non-acidotic proximal tubulopathy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002753 | Thin bony cortex | 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:0002748 | Rickets | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002663 | Delayed epiphyseal ossification | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012622 | Chronic kidney disease | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003126 | Low-molecular-weight proteinuria | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0005576 | Tubulointerstitial fibrosis | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0002150 | Hypercalciuria | 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:0002752 | Sparse bone trabeculae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 821 |
|---|---|
| Disease | dent disease |
| Case | (Waiting for update.) |