{"Name":"Multicystic kidney dysplasia","DiseaseID__c":"GARD:0018748","id":18748,"encodedName":"multicystic-kidney-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Multicystic kidney dysplasia","Xref_IDs__c":"204962002; C123031; C3714581; D021782; HP:0000003; MEDGEN:811388; MONDO:0015988; ORPHA:1851","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015988","Disease_Description__c":"A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.","GARD_Name__c":"Multicystic kidney dysplasia","GARD_Synonym__c":"mcdk; mckd - multicystic kidney disease; multicystic dysplastic kidney; multicystic kidneys; multicystic renal dysplasia","Curated_Disease_Description_Source__c":"MONDO:0015988","Curated_Disease_Description__c":"A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1851","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015988","ORPHANET_ID__c":"ORPHA:1851","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Riñón displásico multiquístico","Spanish_Description_Source__c":"ORPHA:1851","Spanish_Description__c":"Es una anomalía congénita poco frecuente del riñón y del tracto urinario (CAKUT) en la que uno o ambos riñones (MCDK unilateral o bilateral, respectivamente) están agrandados y distendidos a consecuencia de la presencia de múltiples quistes y no son funcionales. La MCDK unilateral es típicamente asintomática cuando el segundo riñón es completamente funcional, pero en ocasiones puede presentarse con signos de obstrucción abdominal cuando los quistes alcanzan gran tamaño. La MCDK bilateral se considera una entidad letal y los recién nacidos presentan características de la secuencia de Potter, hipoplasia pulmonar grave e insuficiencia renal grave y, por lo general, fallecen poco después del nacimiento.","Spanish_Disease_Name__c":"riñón displásico multiquístico","Spanish_GARD_Synonym__c":"displasia renal multiquística; mcdk","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":"A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.","Curated_Disease_Description_Source__c":"MONDO:0015988","GARD_Synonym__c":"mcdk; mckd - multicystic kidney disease; multicystic dysplastic kidney; multicystic kidneys; multicystic renal dysplasia","Name":"Multicystic kidney dysplasia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1851"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1851"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=811388","Source__c":"C3714581","Xref__c":"MEDGEN:811388"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3714581","Source__c":"C3714581","Xref__c":"C3714581"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C021782","Source__c":"C3714581; MONDO:0015988","Xref__c":"D021782"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204962002","Source__c":"MONDO:0015988","Xref__c":"204962002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123031","Source__c":"C3714581; MONDO:0015988","Xref__c":"C123031"},{"URL__c":"https://www.orpha.net/en/disease/detail/1851","Source__c":"C3714581; MONDO:0015988; ORPHA:1851","Xref__c":"ORPHA:1851"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000003","Source__c":"C3714581","Xref__c":"HP:0000003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015988","Source__c":"GARD:0018748","Xref__c":"MONDO:0015988"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=737562008","Source__c":"C3714581","Xref__c":"737562008"},{"URL__c":"https://www.niddk.nih.gov/health-information/kidney-disease/children/multicystic-dysplastic-kidney"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030735","HPO_Name__c":"Ureterovesical junction obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blockage of urine flow from the renal pelvis to the proximal ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000074","HPO_Synonym__c":"Pelviureteric junction obstruction; Ureteropelvic junction stenosis","HPO_Name__c":"Ureteropelvic junction obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031500","HPO_Name__c":"Abdominal mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000070","HPO_Name__c":"Ureterocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["mcdk"," mckd - multicystic kidney disease"," multicystic dysplastic kidney"," multicystic kidneys"," multicystic renal dysplasia"]}