{"Name":"Lethal congenital contracture syndrome 4","DiseaseID__c":"GARD:0012645","id":12645,"encodedName":"lethal-congenital-contracture-syndrome-4","IsDeleted":false,"Disease_Name_Full__c":"Lethal congenital contracture syndrome 4","Xref_IDs__c":"C3554046; DOID:0060654; MEDGEN:766960; MONDO:0013965; OMIM:614915","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013965","Disease_Description__c":"Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.","GARD_Name__c":"Lethal congenital contracture syndrome 4","GARD_Synonym__c":"lccs4; lethal congenital contracture syndrome caused by mutation in mybpc1; lethal congenital contracture syndrome type 4; mybpc1 lethal congenital contracture syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Lethal congenital contracture syndrome 4 is a rare genetic disorder caused by a specific change in the MYBPC1 gene on chromosome 12q23. This disease causes severe muscle contractions and stiffness that can be fatal. Lethal congenital contracture syndrome is a group of disorders that affect muscle and joint development before birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614915","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013965","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Lethal congenital contracture syndrome 4 is a rare genetic disorder caused by a specific change in the MYBPC1 gene on chromosome 12q23. This disease causes severe muscle contractions and stiffness that can be fatal. Lethal congenital contracture syndrome is a group of disorders that affect muscle and joint development before birth.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"lccs4; lethal congenital contracture syndrome caused by mutation in mybpc1; lethal congenital contracture syndrome type 4; mybpc1 lethal congenital contracture syndrome","Name":"Lethal congenital contracture syndrome 4","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3554046"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012645","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554046","Source__c":"C3554046","Xref__c":"C3554046"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060654","Source__c":"MONDO:0013965","Xref__c":"DOID:0060654"},{"URL__c":"https://www.omim.org/entry/614915","Source__c":"C3554046; MONDO:0013965","Xref__c":"OMIM:614915"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766960","Source__c":"C3554046","Xref__c":"MEDGEN:766960"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013965","Source__c":"GARD:0012645","Xref__c":"MONDO:0013965"}],"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"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614915","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614915","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614915","Feature__r":{"HPO_Description__c":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005684","HPO_Name__c":"Distal arthrogryposis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614915","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614915","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["lccs4"," lethal congenital contracture syndrome caused by mutation in mybpc1"," lethal congenital contracture syndrome type 4"," mybpc1 lethal congenital contracture syndrome"]}