{"Name":"Ventriculomegaly-cystic kidney disease","DiseaseID__c":"GARD:0017757","id":17757,"encodedName":"ventriculomegaly-cystic-kidney-disease","IsDeleted":false,"Disease_Name_Full__c":"Ventriculomegaly-cystic kidney disease","Xref_IDs__c":"C1857423; DOID:0111625; MEDGEN:346584; MONDO:0009063; OMIM:219730; ORPHA:443988","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:443988","Disease_Description__c":"A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.","GARD_Name__c":"Ventriculomegaly-cystic kidney disease","GARD_Synonym__c":"cerebral ventriculomegaly, cystic kidney disease; congenital nephrosis-cerebral ventriculomegaly syndrome; congenital nephrosis, cerebral ventriculomegaly syndrome; ventriculomegaly with cystic kidney disease; vmckd; vmckd - ventriculomegaly with cystic kidney disease","Curated_Disease_Description_Source__c":"ORPHA:443988","Curated_Disease_Description__c":"A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:443988","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009063","ORPHANET_ID__c":"ORPHA:443988","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ventriculomegalia con enfermedad quística renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"ventriculomegalia con enfermedad quística renal","Spanish_GARD_Synonym__c":"nefrosis congénita con ventriculomegalia cerebral; vmckd","Category_Linearization__c":"ORPHA:93890","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 genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.","Curated_Disease_Description_Source__c":"ORPHA:443988","GARD_Synonym__c":"cerebral ventriculomegaly, cystic kidney disease; congenital nephrosis-cerebral ventriculomegaly syndrome; congenital nephrosis, cerebral ventriculomegaly syndrome; ventriculomegaly with cystic kidney disease; vmckd; vmckd - ventriculomegaly with cystic kidney disease","Name":"Ventriculomegaly-cystic kidney disease","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Antenatal","Provided_By__c":"ORPHA:443988"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111625","Source__c":"MONDO:0009063","Xref__c":"DOID:0111625"},{"URL__c":"https://www.omim.org/entry/219730","Source__c":"C1857423; MONDO:0009063; ORPHA:443988","Xref__c":"OMIM:219730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346584","Source__c":"C1857423","Xref__c":"MEDGEN:346584"},{"URL__c":"https://www.orpha.net/en/disease/detail/443988","Source__c":"C1857423; MONDO:0009063; ORPHA:443988","Xref__c":"ORPHA:443988"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857423","Source__c":"C1857423","Xref__c":"C1857423"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1216942009","Source__c":"C1857423","Xref__c":"1216942009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009063","Source__c":"GARD:0017757","Xref__c":"MONDO:0009063"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:219730","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","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":"OMIM:219730","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002282","HPO_Synonym__c":"Gray matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia","HPO_Name__c":"Gray matter heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:219730","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple cysts at the border between the renal cortex and medulla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000108","HPO_Synonym__c":"Corticomedullary renal cysts","HPO_Name__c":"Renal corticomedullary cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032622","HPO_Synonym__c":"Tubular ectasia","HPO_Name__c":"Tubular luminal dilatation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025671","HPO_Name__c":"Fetal pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal; Imaging_Echocardiogram"}},{"Provided_By__c":"OMIM:219730","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004719","HPO_Synonym__c":"Echogenic kidneys; Increased echogenicity of the renal parenchyma","HPO_Name__c":"Hyperechogenic kidneys","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cerebral ventriculomegaly, cystic kidney disease"," congenital nephrosis-cerebral ventriculomegaly syndrome"," congenital nephrosis, cerebral ventriculomegaly syndrome"," ventriculomegaly with cystic kidney disease"," vmckd"," vmckd - ventriculomegaly with cystic kidney disease"]}