{"Name":"Renal coloboma syndrome","DiseaseID__c":"GARD:0004106","id":4106,"encodedName":"renal-coloboma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Renal coloboma syndrome","Xref_IDs__c":"446449009; C123230; C1852759; C537168; DOID:0090006; MEDGEN:339002; MONDO:0007352; OMIM:120330; ORPHA:1475","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007352","Disease_Description__c":"A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.","GARD_Name__c":"Renal coloboma syndrome","GARD_Synonym__c":"cakut with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma with renal disease; papillo-renal syndrome; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; papillorenal syndrome with mild ocular abnormalities; paprs; renal-coloboma syndrome with macular abnormalities","Curated_Disease_Description_Source__c":"GARD:0004106","Curated_Disease_Description__c":"Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.  People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD).  This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.  It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome.  The kidney problems can affect one or both kidneys. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain.  Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina).  The vision problems caused by these abnormalities can vary depending on the size and location of the malformation.  Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1475","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007352","ORPHANET_ID__c":"ORPHA:1475","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome renal-coloboma","Spanish_Description_Source__c":"ORPHA:1475","Spanish_Description__c":"Es una enfermedad genética caracterizada por una displasia del nervio óptico e hipodisplasia renal.","Spanish_Disease_Name__c":"síndrome renal-coloboma","Spanish_GARD_Synonym__c":"coloboma del nervio óptico con enfermedad renal; síndrome papilo-renal","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":"Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.  People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD).  This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.  It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome.  The kidney problems can affect one or both kidneys. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain.  Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina).  The vision problems caused by these abnormalities can vary depending on the size and location of the malformation.  Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.","Curated_Disease_Description_Source__c":"GARD:0004106","GARD_Synonym__c":"cakut with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma with renal disease; papillo-renal syndrome; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; papillorenal syndrome with mild ocular abnormalities; paprs; renal-coloboma syndrome with macular abnormalities","Name":"Renal coloboma syndrome","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/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1475"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1852759"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004106","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1451","Source__c":"Gene Review","Xref__c":"NBK1451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537168","Source__c":"MONDO:0007352","Xref__c":"C537168"},{"URL__c":"https://www.orpha.net/en/disease/detail/1475","Source__c":"C1852759; MONDO:0007352; ORPHA:1475","Xref__c":"ORPHA:1475"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852759","Source__c":"C1852759","Xref__c":"C1852759"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=446449009","Source__c":"C1852759; MONDO:0007352","Xref__c":"446449009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090006","Source__c":"MONDO:0007352","Xref__c":"DOID:0090006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123230","Source__c":"C1852759; MONDO:0007352","Xref__c":"C123230"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339002","Source__c":"C1852759","Xref__c":"MEDGEN:339002"},{"URL__c":"https://www.omim.org/entry/120330","Source__c":"C1852759; MONDO:0007352; ORPHA:1475","Xref__c":"OMIM:120330"},{"URL__c":"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome","Source__c":"GARD:0004106","Xref__c":"https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007352","Source__c":"GARD:0004106","Xref__c":"MONDO:0007352"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001093","HPO_Name__c":"Optic nerve dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","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:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A notch or cleft of the retina or choroid, located vertically below the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000480","HPO_Synonym__c":"Hole in the back of the eye","HPO_Name__c":"Retinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","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:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","HPO_Frequency__c":"Frequent (30-79%)","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:1475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1475","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Neuro-Ophthalmology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cakut with or without ocular abnormalities"," coloboma of optic nerve with renal disease"," congenital anomalies of the kidney and urinary tract with or without ocular abnormalities"," optic coloboma, vesicoureteral reflux and renal anomalies"," optic coloboma, vesicoureteral reflux, and renal anomalies"," optic nerve coloboma with renal disease"," papillo-renal syndrome"," papillo-renal syndrome, optic nerve coloboma with renal disease"," papillorenal syndrome"," papillorenal syndrome with mild ocular abnormalities"," paprs"," renal-coloboma syndrome with macular abnormalities"]}