{"Name":"Cataract-nephropathy-encephalopathy syndrome","DiseaseID__c":"GARD:0001614","id":1614,"encodedName":"cataract-nephropathy-encephalopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cataract-nephropathy-encephalopathy syndrome","Xref_IDs__c":"722381004; C0795914; C536216; MEDGEN:167082; MONDO:0009045; OMIM:218900; ORPHA:1380","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009045","Disease_Description__c":"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.","GARD_Name__c":"Cataract-nephropathy-encephalopathy syndrome","GARD_Synonym__c":"congenital cataract, nephropathy, encephalopathy syndrome; crome syndrome","Curated_Disease_Description_Source__c":"MONDO:0009045","Curated_Disease_Description__c":"A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1380","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009045","ORPHANET_ID__c":"ORPHA:1380","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata-nefropatía-encefalopatía","Spanish_Description_Source__c":"ORPHA:1380","Spanish_Description__c":"Es una combinación letal poco frecuente de manifestaciones, que incluyen talla baja, cataratas congénitas, encefalopatía con crisis epilépticas, y confirmación post morten de nefropatía (necrosis tubular renal). No ha habido más casos descritos en la literatura desde 1963.","Spanish_Disease_Name__c":"síndrome de catarata-nefropatía-encefalopatía","Spanish_GARD_Synonym__c":null,"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 lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.","Curated_Disease_Description_Source__c":"MONDO:0009045","GARD_Synonym__c":"congenital cataract, nephropathy, encephalopathy syndrome; crome syndrome","Name":"Cataract-nephropathy-encephalopathy syndrome","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":"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1380"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536216","Source__c":"MONDO:0009045","Xref__c":"C536216"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167082","Source__c":"C0795914","Xref__c":"MEDGEN:167082"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795914","Source__c":"C0795914","Xref__c":"C0795914"},{"URL__c":"https://www.orpha.net/en/disease/detail/1380","Source__c":"C0795914; MONDO:0009045; ORPHA:1380","Xref__c":"ORPHA:1380"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722381004","Source__c":"C0795914; MONDO:0009045","Xref__c":"722381004"},{"URL__c":"https://www.omim.org/entry/218900","Source__c":"C0795914; MONDO:0009045; ORPHA:1380","Xref__c":"OMIM:218900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009045","Source__c":"GARD:0001614","Xref__c":"MONDO:0009045"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000124","HPO_Synonym__c":"Abnormal function of filtrating structures in kidney; Renal tubular defect","HPO_Name__c":"Renal tubular dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1380","HPO_Frequency__c":"Frequent (30-79%)","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:1380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1380","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1380","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital cataract, nephropathy, encephalopathy syndrome"," crome syndrome"]}