{"Name":"Karyomegalic interstitial nephritis","DiseaseID__c":"GARD:0011003","id":11003,"encodedName":"karyomegalic-interstitial-nephritis","IsDeleted":false,"Disease_Name_Full__c":"Karyomegalic interstitial nephritis","Xref_IDs__c":"782738008; C173626; C3553774; DOID:0060911; MEDGEN:766688; MONDO:0013898; OMIM:614817; ORPHA:401996","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013898","Disease_Description__c":"Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.","GARD_Name__c":"Karyomegalic interstitial nephritis","GARD_Synonym__c":"fan1 interstitial nephritis; interstitial nephritis caused by mutation in fan1; kin; kin - karyomegalic interstitial nephritis; kmin; systemic karyomegaly","Curated_Disease_Description_Source__c":"MONDO:0013898","Curated_Disease_Description__c":"Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:401996","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013898","ORPHANET_ID__c":"ORPHA:401996","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nefritis intersticial cariomegálica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"nefritis intersticial cariomegálica","Spanish_GARD_Synonym__c":"cariomegalia sistémica; kin","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":"Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.","Curated_Disease_Description_Source__c":"MONDO:0013898","GARD_Synonym__c":"fan1 interstitial nephritis; interstitial nephritis caused by mutation in fan1; kin; kin - karyomegalic interstitial nephritis; kmin; systemic karyomegaly","Name":"Karyomegalic interstitial nephritis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:401996"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3553774"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0011003","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/401996","Source__c":"C3553774; MONDO:0013898; ORPHA:401996","Xref__c":"ORPHA:401996"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C173626","Source__c":"C3553774; MONDO:0013898","Xref__c":"C173626"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766688","Source__c":"C3553774","Xref__c":"MEDGEN:766688"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060911","Source__c":"MONDO:0013898","Xref__c":"DOID:0060911"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3553774","Source__c":"C3553774","Xref__c":"C3553774"},{"URL__c":"https://www.omim.org/entry/614817","Source__c":"C3553774; MONDO:0013898; ORPHA:401996","Xref__c":"OMIM:614817"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013898","Source__c":"GARD:0011003","Xref__c":"MONDO:0013898"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782738008","Source__c":"C3553774","Xref__c":"782738008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FAN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0041050","HPO_Synonym__c":"Renal tubule cyst","HPO_Name__c":"Renal tubular cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:614817","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:614817","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032948","HPO_Name__c":"Renal interstitial fibrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000090","HPO_Synonym__c":"juvenile nephronophthisis","HPO_Name__c":"Nephronophthisis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:614817","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614817","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614817","Feature__r":{"HPO_Description__c":"An increased amount of nitrogen in the form of urea in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003138","HPO_Synonym__c":"Increased blood urea nitrogen; Increased BUN","HPO_Name__c":"Increased blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614817","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["fan1 interstitial nephritis"," interstitial nephritis caused by mutation in fan1"," kin"," kin - karyomegalic interstitial nephritis"," kmin"," systemic karyomegaly"]}