{"Name":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","DiseaseID__c":"GARD:0022035","id":22035,"encodedName":"mybpc1-related-autosomal-recessive-non-lethal-arthrogryposis-multiplex-congenita-syndrome","IsDeleted":false,"Disease_Name_Full__c":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","Xref_IDs__c":"1251451005; C5680092; MEDGEN:1814448; MONDO:0044682; ORPHA:498693","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:498693","Disease_Description__c":"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fulness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.","GARD_Name__c":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","GARD_Synonym__c":"mybpc1-related autosomal recessive non-lethal amc syndrome; myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","Curated_Disease_Description_Source__c":"ORPHA:498693","Curated_Disease_Description__c":"A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:498693","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044682","ORPHANET_ID__c":"ORPHA:498693","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de artrogriposis múltiple congénita no letal autosómica recesiva asociada a mybpc1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de artrogriposis múltiple congénita no letal autosómica recesiva asociada a mybpc1","Spanish_GARD_Synonym__c":"síndrome de amc no letal autosómica recesiva asociada a mybpc1","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 arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.","Curated_Disease_Description_Source__c":"ORPHA:498693","GARD_Synonym__c":"mybpc1-related autosomal recessive non-lethal amc syndrome; myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","Name":"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:498693"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814448","Source__c":"C5680092","Xref__c":"MEDGEN:1814448"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680092","Source__c":"C5680092","Xref__c":"C5680092"},{"URL__c":"https://www.orpha.net/en/disease/detail/498693","Source__c":"C5680092; MONDO:0044682; ORPHA:498693","Xref__c":"ORPHA:498693"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044682","Source__c":"GARD:0022035","Xref__c":"MONDO:0044682"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1251451005","Source__c":"C5680092","Xref__c":"1251451005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYBPC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mybpc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["mybpc1-related autosomal recessive non-lethal amc syndrome"," myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"]}