{"Name":"Lethal congenital contracture syndrome 3","DiseaseID__c":"GARD:0012644","id":12644,"encodedName":"lethal-congenital-contracture-syndrome-3","IsDeleted":false,"Disease_Name_Full__c":"Lethal congenital contracture syndrome 3","Xref_IDs__c":"715420005; C1969655; C566961; DOID:0060653; MEDGEN:369555; MONDO:0012656; OMIM:611369; ORPHA:137783","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:0012656","Disease_Description__c":"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","GARD_Name__c":"Lethal congenital contracture syndrome 3","GARD_Synonym__c":"israeli bedouin type b multiple contracture syndrome; lccs3; lethal congenital contractural syndrome 3; lethal congenital contracture syndrome caused by mutation in pip5k1c; lethal congenital contracture syndrome type 3; multiple contracture syndrome, israeli bedouin type b; pip5k1c lethal congenital contracture syndrome","Curated_Disease_Description_Source__c":"MONDO:0012656","Curated_Disease_Description__c":"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","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:137783","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012656","ORPHANET_ID__c":"ORPHA:137783","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de contractura letal congénita tipo 3","Spanish_Description_Source__c":"ORPHA:137783","Spanish_Description__c":"El síndrome de contractura letal congénita tipo 3 es un síndrome de artrogriposis poco frecuente caracterizado por signos clínicos idénticos a los del síndrome de contractura letal congénita tipo 2, es decir, contracturas congénitas múltiples (típicamente codos extendidos y rodillas flexionadas), micrognatia, degeneración de las células del asta anterior, atrofia de los músculos esqueléticos (principalmente de las extremidades inferiores), en ausencia de hidrops, pterigio o fracturas óseas, pero sin agrandamiento de la vejiga.","Spanish_Disease_Name__c":"síndrome de contractura letal congénita tipo 3","Spanish_GARD_Synonym__c":"lccs3","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":"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","Curated_Disease_Description_Source__c":"MONDO:0012656","GARD_Synonym__c":"israeli bedouin type b multiple contracture syndrome; lccs3; lethal congenital contractural syndrome 3; lethal congenital contracture syndrome caused by mutation in pip5k1c; lethal congenital contracture syndrome type 3; multiple contracture syndrome, israeli bedouin type b; pip5k1c lethal congenital contracture syndrome","Name":"Lethal congenital contracture syndrome 3","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":"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:137783"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:137783"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1969655"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969655","Source__c":"C1969655","Xref__c":"C1969655"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=369555","Source__c":"C1969655","Xref__c":"MEDGEN:369555"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715420005","Source__c":"C1969655; MONDO:0012656","Xref__c":"715420005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060653","Source__c":"MONDO:0012656","Xref__c":"DOID:0060653"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566961","Source__c":"MONDO:0012656","Xref__c":"C566961"},{"URL__c":"https://www.omim.org/entry/611369","Source__c":"C1969655; MONDO:0012656; ORPHA:137783","Xref__c":"OMIM:611369"},{"URL__c":"https://www.orpha.net/en/disease/detail/137783","Source__c":"C1969655; MONDO:0012656; ORPHA:137783","Xref__c":"ORPHA:137783"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012656","Source__c":"GARD:0012644","Xref__c":"MONDO:0012656"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIP5K1C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611369","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611369","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:611369","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"}},{"Provided_By__c":"OMIM:611369","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["israeli bedouin type b multiple contracture syndrome"," lccs3"," lethal congenital contractural syndrome 3"," lethal congenital contracture syndrome caused by mutation in pip5k1c"," lethal congenital contracture syndrome type 3"," multiple contracture syndrome, israeli bedouin type b"," pip5k1c lethal congenital contracture syndrome"]}