{"Name":"Atypical hypotonia-cystinuria syndrome","DiseaseID__c":"GARD:0017175","id":17175,"encodedName":"atypical-hypotonia-cystinuria-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Atypical hypotonia-cystinuria syndrome","Xref_IDs__c":"C4755274; MEDGEN:1668791; MONDO:0016539; ORPHA:238523","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016539","Disease_Description__c":"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).","GARD_Name__c":"Atypical hypotonia-cystinuria syndrome","GARD_Synonym__c":"atypical hcs; atypical hypotonia cystinuria syndrome","Curated_Disease_Description_Source__c":"ORPHA:238523","Curated_Disease_Description__c":"A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:238523","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016539","ORPHANET_ID__c":"ORPHA:238523","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipotonía-cistinuria atípico","Spanish_Description_Source__c":"ORPHA:238523","Spanish_Description__c":"Es una forma del síndrome de hipotonía-cistinuria tipo 1 caracterizada por discapacidad intelectual de leve a moderada asociada al fenotipo clásico del síndrome de hipotonía - cistinuria (cistinuria tipo 1, hipotonía generalizada, problemas de alimentación, retraso del crecimiento y dismorfia facial menor).","Spanish_Disease_Name__c":"síndrome de hipotonía-cistinuria atípico","Spanish_GARD_Synonym__c":"hcs atípico","Category_Linearization__c":"ORPHA:68367","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 form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).","Curated_Disease_Description_Source__c":"ORPHA:238523","GARD_Synonym__c":"atypical hcs; atypical hypotonia cystinuria syndrome","Name":"Atypical hypotonia-cystinuria syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238523"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238523"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755274","Source__c":"C4755274","Xref__c":"C4755274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1668791","Source__c":"C4755274","Xref__c":"MEDGEN:1668791"},{"URL__c":"https://www.orpha.net/en/disease/detail/238523","Source__c":"C4755274; MONDO:0016539; ORPHA:238523","Xref__c":"ORPHA:238523"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778025006","Source__c":"C4755274","Xref__c":"778025006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016539","Source__c":"GARD:0017175","Xref__c":"MONDO:0016539"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Account":["Chromosomal Anomaly","Nephrology","Mitochondrial"],"Cause":["Chromosomal Anomaly","Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism","Congenital Abnormality","Mitochondrial"],"Specialist":["Genetics","Nephrology","Pediatrics"]},"synonyms":["atypical hcs"," atypical hypotonia cystinuria syndrome"]}