{"Name":"Dent disease","DiseaseID__c":"GARD:0013105","id":13105,"encodedName":"dent-disease","IsDeleted":false,"Disease_Name_Full__c":"Dent disease","Xref_IDs__c":"444645005; C0878681; C123260; D057973; DOID:0050699; MEDGEN:168056; MONDO:0015612; NBK99494; OMIMPS:300009; ORPHA:1652","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015612","Disease_Description__c":"A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria, nephrolithiasis/nephrocalcinosis, and progressive renal failure, among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants.","GARD_Name__c":"Dent disease","GARD_Synonym__c":"dent syndrome; dent's disease; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; renal fanconi syndrome with nephrocalcinosis and renal stones; x-linked recessive hypercalciuric hypophosphatemic rickets; x-linked recessive hypophosphatemic rickets; x-linked recessive nephrolithiasis","Curated_Disease_Description_Source__c":"GARD:0013105","Curated_Disease_Description__c":"Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time. The most frequent sign of Dent disease is the presence of an abnormally large amount of proteins in the urine (tubular proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney stones can cause abdominal pain and blood in the urine (hematuria). In most affected males, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Some people with Dent disease develop rickets, a bone disorder that results when the levels of vitamin D and certain minerals (including calcium) in the blood become too low. Rickets can be associated with weakening and softening of the bones, bone pain, bowed legs, and difficulty walking. Researchers have described two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms. Both forms of Dent disease (type 1 and type 2) are characterized by the features described above, but Dent disease 2 can also be associated with abnormalities unrelated to kidney function. These additional signs and symptoms include mild intellectual disability, weak muscle tone (hypotonia), and clouding of the lens of the eyes (cataract) that is described as subclinical because it does not impair vision. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1652","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015612","ORPHANET_ID__c":"ORPHA:1652","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de dent","Spanish_Description_Source__c":"ORPHA:1652","Spanish_Description__c":"Es una rara enfermedad tubular renal ligada al cromosoma X caracterizada por una disfunción primaria del túbulo proximal con proteinuria de bajo peso molecular. Otras características renales frecuentemente descritas incluyen hipercalciuria, nefrolitiasis/nefrocalcinosis e insuficiencia renal progresiva, entre otras. Hay dos subtipos: enfermedad de Dent tipo 1, caracterizada por un fenotipo renal aislado y asociada a variantes de <i>CLCN5</i>, y enfermedad de Dent tipo 2, a menudo caracterizada por la presencia de manifestaciones extrarrenales y asociadoa a variantes de <i>OCRL1</i>.","Spanish_Disease_Name__c":"enfermedad de dent","Spanish_GARD_Synonym__c":"nefrolitiasis recesiva ligada al cromosoma x; proteinuria de bajo peso molecular con hipercalciuria y nefrocalcinosis; raquitismo hipofosfatémico recesivo ligado al cromosoma x con hipercalciuria; síndrome de dent; síndrome de fanconi renal con nefrocalcinosis y cálculos renales","Category_Linearization__c":"ORPHA:93626","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time. The most frequent sign of Dent disease is the presence of an abnormally large amount of proteins in the urine (tubular proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney stones can cause abdominal pain and blood in the urine (hematuria). In most affected males, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Some people with Dent disease develop rickets, a bone disorder that results when the levels of vitamin D and certain minerals (including calcium) in the blood become too low. Rickets can be associated with weakening and softening of the bones, bone pain, bowed legs, and difficulty walking. Researchers have described two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms. Both forms of Dent disease (type 1 and type 2) are characterized by the features described above, but Dent disease 2 can also be associated with abnormalities unrelated to kidney function. These additional signs and symptoms include mild intellectual disability, weak muscle tone (hypotonia), and clouding of the lens of the eyes (cataract) that is described as subclinical because it does not impair vision. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.","Curated_Disease_Description_Source__c":"GARD:0013105","GARD_Synonym__c":"dent syndrome; dent's disease; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; renal fanconi syndrome with nephrocalcinosis and renal stones; x-linked recessive hypercalciuric hypophosphatemic rickets; x-linked recessive hypophosphatemic rickets; x-linked recessive nephrolithiasis","Name":"Dent disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"},{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"},{"Account_Name__c":"Dent Disease Foundation","Website__c":"https://www.dentdisease.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1652"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0878681"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1839874"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0878681","Source__c":"C0878681","Xref__c":"C0878681"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS300009","Source__c":"MONDO:0015612","Xref__c":"OMIMPS:300009"},{"URL__c":"https://www.orpha.net/en/disease/detail/1652","Source__c":"C0878681; MONDO:0015612; ORPHA:1652","Xref__c":"ORPHA:1652"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C057973","Source__c":"MONDO:0015612","Xref__c":"D057973"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444645005","Source__c":"C0878681; MONDO:0015612","Xref__c":"444645005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050699","Source__c":"MONDO:0015612","Xref__c":"DOID:0050699"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123260","Source__c":"C0878681; MONDO:0015612","Xref__c":"C123260"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=168056","Source__c":"C0878681","Xref__c":"MEDGEN:168056"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015612","Source__c":"GARD:0013105","Xref__c":"MONDO:0015612"},{"URL__c":"https://medlineplus.gov/genetics/condition/dent-disease","Source__c":"GARD:0013105","Xref__c":"https://medlineplus.gov/genetics/condition/dent-disease"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK99494","Source__c":"Gene Review","Xref__c":"NBK99494"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005574","HPO_Name__c":"Non-acidotic proximal tubulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000092","HPO_Synonym__c":"Renal tubular cell atrophy; Tubular atrophy","HPO_Name__c":"Renal tubular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002748","HPO_Synonym__c":"Weak and soft bones","HPO_Name__c":"Rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010580","HPO_Synonym__c":"Large end part of bone; Large epiphyses; Widened, distorted epiphyses","HPO_Name__c":"Enlarged epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003029","HPO_Synonym__c":"Enlargement of the ankles","HPO_Name__c":"Enlargement of the ankles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000114","HPO_Synonym__c":"Proximal renal tubule defect; Proximal renal tubulopathy; Proximal tubular defect; Proximal tubule dysfunction; Selective proximal tubular damage","HPO_Name__c":"Proximal tubulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031415","HPO_Synonym__c":"High serum 1,25-dihydroxycholecalciferol; High serum 1,25-dihydroxyvitamin D3; Increased serum 1,25-dihydroxyvitamin D3; Increased serum calcitriol","HPO_Name__c":"High serum calcitriol","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003126","HPO_Synonym__c":"Tubular proteinuria","HPO_Name__c":"Low-molecular-weight proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002752","HPO_Name__c":"Sparse bone trabeculae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003149","HPO_Synonym__c":"High urine uric acid level; Increased urinary urate","HPO_Name__c":"Hyperuricosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003013","HPO_Synonym__c":"Bulging end part of bone","HPO_Name__c":"Bulging epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003020","HPO_Synonym__c":"Enlargement of the wrists","HPO_Name__c":"Enlargement of the wrists","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005576","HPO_Synonym__c":"Tubulointerstitial renal fibrosis","HPO_Name__c":"Tubulointerstitial fibrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003076","HPO_Synonym__c":"Glucose in urine; Glucosuria","HPO_Name__c":"Glycosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High urine phosphate in the presence of hypophosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000117","HPO_Synonym__c":"Decreased renal tubular phosphate reabsorption; Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate; Tubular phosphate reabsorption low","HPO_Name__c":"Renal phosphate wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008732","HPO_Name__c":"Renal hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1652","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Orthopedics","Pediatrics"],"Account":["Nephrology"]},"synonyms":["dent syndrome"," dent's disease"," low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis"," renal fanconi syndrome with nephrocalcinosis and renal stones"," x-linked recessive hypercalciuric hypophosphatemic rickets"," x-linked recessive hypophosphatemic rickets"," x-linked recessive nephrolithiasis"]}