{"Name":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","DiseaseID__c":"GARD:0017949","id":17949,"encodedName":"intrauterine-growth-restriction-congenital-multiple-caf-au-lait-macules-increased-sister-chromatid-exchange-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","Xref_IDs__c":"C5567901; MEDGEN:1799324; MONDO:0034991; ORPHA:508512","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0034991","Disease_Description__c":"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.","GARD_Name__c":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome","GARD_Synonym__c":"intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome","Curated_Disease_Description_Source__c":"MONDO:0034991","Curated_Disease_Description__c":"A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:508512","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034991","ORPHANET_ID__c":"ORPHA:508512","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de restricción del crecimiento intrauterino-múltiples máculas café con leche congénitas-elevada tasa de intercambio entre cromátidas hermanas","Spanish_Description_Source__c":"ORPHA:508512","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente caracterizada por la presencia de múltiples máculas de color café con leche y una tasa elevada de intercambio de cromátidas hermanas evidenciada en las pruebas citogenéticas. También se han descrito deficiencias de crecimiento pre- y postnatal con talla baja, microcefalia, retraso leve del desarrollo, miocardiopatía y reflujo gastroesofágico sintomático, mientras que la erupción malar suele estar ausente.","Spanish_Disease_Name__c":"síndrome de restricción del crecimiento intrauterino-múltiples máculas café con leche congénitas-elevada tasa de intercambio entre cromátidas hermanas","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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 disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.","Curated_Disease_Description_Source__c":"MONDO:0034991","GARD_Synonym__c":"intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome","Name":"Intrauterine growth restriction-congenital multiple café-au-lait macules-increas","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:508512"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:508512"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799324","Source__c":"C5567901","Xref__c":"MEDGEN:1799324"},{"URL__c":"https://www.orpha.net/en/disease/detail/508512","Source__c":"C5567901; MONDO:0034991; ORPHA:508512","Xref__c":"ORPHA:508512"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567901","Source__c":"C5567901","Xref__c":"C5567901"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034991","Source__c":"GARD:0017949","Xref__c":"MONDO:0034991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1177178005","Source__c":"C5567901","Xref__c":"1177178005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TOP3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RMI2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome"]}