{"Name":"NPHP3-related Meckel-like syndrome","DiseaseID__c":"GARD:0004665","id":4665,"encodedName":"nphp3-related-meckel-like-syndrome","IsDeleted":false,"Disease_Name_Full__c":"NPHP3-related Meckel-like syndrome","Xref_IDs__c":"773737004; C2673885; C537756; DOID:0070121; MEDGEN:382217; MONDO:0009966; OMIM:267010; ORPHA:3032","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:3032","Disease_Description__c":"NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.","GARD_Name__c":"NPHP3-related Meckel-like syndrome","GARD_Synonym__c":"goldston syndrome; meckel syndrome type 7; meckel-gruber syndrome, type 7; meckel-like syndrome type 1; mks7; nephrocystin 3-related meckel-like syndrome; nphp3 (nephrocystin 3) related meckel-like syndrome; nphp3-related meckel syndrome; renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome; renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome","Curated_Disease_Description_Source__c":"ORPHA:3032","Curated_Disease_Description__c":"NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3032","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009966","ORPHANET_ID__c":"ORPHA:3032","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome similar a meckel asociado a nphp3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome similar a meckel asociado a nphp3","Spanish_GARD_Synonym__c":"displasia renal-hepática-pancreática-quistes de dandy-walker; síndrome de goldston; síndrome de meckel tipo 7; síndrome de meckel-like asociado a nphp3; síndrome similar a meckel, tipo 1","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":"NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.","Curated_Disease_Description_Source__c":"ORPHA:3032","GARD_Synonym__c":"goldston syndrome; meckel syndrome type 7; meckel-gruber syndrome, type 7; meckel-like syndrome type 1; mks7; nephrocystin 3-related meckel-like syndrome; nphp3 (nephrocystin 3) related meckel-like syndrome; nphp3-related meckel syndrome; renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome; renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome","Name":"NPHP3-related Meckel-like syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dandy-Walker Alliance, Inc.","Website__c":"https://dandy-walker.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":"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Childhood","Provided_By__c":"ORPHA:3032"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2673885"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004665","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537756","Source__c":"MONDO:0009966","Xref__c":"C537756"},{"URL__c":"https://www.orpha.net/en/disease/detail/3032","Source__c":"C2673885; MONDO:0009966; ORPHA:3032","Xref__c":"ORPHA:3032"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070121","Source__c":"MONDO:0009966","Xref__c":"DOID:0070121"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673885","Source__c":"C2673885","Xref__c":"C2673885"},{"URL__c":"https://www.omim.org/entry/267010","Source__c":"C2673885; MONDO:0009966; ORPHA:3032","Xref__c":"OMIM:267010"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382217","Source__c":"C2673885","Xref__c":"MEDGEN:382217"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009966","Source__c":"GARD:0004665","Xref__c":"MONDO:0009966"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773737004","Source__c":"C2673885","Xref__c":"773737004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NPHP3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012440","HPO_Synonym__c":"Anomaly of the biliary tract","HPO_Name__c":"Abnormal biliary tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030146","HPO_Name__c":"Abnormal liver parenchyma morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3032","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000110","HPO_Synonym__c":"Dysplastic kidneys; Renal adysplasia","HPO_Name__c":"Renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","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:3032","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001305","HPO_Synonym__c":"Dandy-walker anomaly; Dandy-Walker cyst","HPO_Name__c":"Dandy-Walker malformation","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","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:3032","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3032","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["goldston syndrome"," meckel syndrome type 7"," meckel-gruber syndrome, type 7"," meckel-like syndrome type 1"," mks7"," nephrocystin 3-related meckel-like syndrome"," nphp3 (nephrocystin 3) related meckel-like syndrome"," nphp3-related meckel syndrome"," renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome"," renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome"]}