{"Name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","DiseaseID__c":"GARD:0016687","id":16687,"encodedName":"radio-ulnar-synostosis-amegakaryocytic-thrombocytopenia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","Xref_IDs__c":"721882001; C1854273; C565328; MEDGEN:340183; MONDO:0011555; OMIMPS:605432; ORPHA:71289","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011555","Disease_Description__c":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).","GARD_Name__c":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","GARD_Synonym__c":"atrus syndrome; radioulnar synostosis with amegakaryocytic thrombocytopenia","Curated_Disease_Description_Source__c":"ORPHA:71289","Curated_Disease_Description__c":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:71289","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011555","ORPHANET_ID__c":"ORPHA:71289","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sinostosis radiocubital-trombocitopenia amegacariocítica","Spanish_Description_Source__c":"ORPHA:71289","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de la fusión proximal del cúbito y el radio con trombocitopenia amegacariocítica congénita. Hasta la fecha, se ha descrito menos de 10 casos. El síndrome se transmite como un rasgo autosómico dominante, y está causado por mutaciones en el gen <i>HOXA11</i> (7p15).","Spanish_Disease_Name__c":"síndrome de sinostosis radiocubital-trombocitopenia amegacariocítica","Spanish_GARD_Synonym__c":null,"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":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).","Curated_Disease_Description_Source__c":"ORPHA:71289","GARD_Synonym__c":"atrus syndrome; radioulnar synostosis with amegakaryocytic thrombocytopenia","Name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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:71289"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340183","Source__c":"C1854273","Xref__c":"MEDGEN:340183"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854273","Source__c":"C1854273","Xref__c":"C1854273"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS605432","Source__c":"MONDO:0011555","Xref__c":"OMIMPS:605432"},{"URL__c":"https://www.orpha.net/en/disease/detail/71289","Source__c":"C1854273; MONDO:0011555","Xref__c":"ORPHA:71289"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565328","Source__c":"MONDO:0011555","Xref__c":"C565328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721882001","Source__c":"MONDO:0011555","Xref__c":"721882001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011555","Source__c":"GARD:0016687","Xref__c":"MONDO:0011555"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MECOM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HOXA11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004859","HPO_Name__c":"Amegakaryocytic thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002974","HPO_Synonym__c":"Fused forearm bones","HPO_Name__c":"Radioulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Hematology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["atrus syndrome"," radioulnar synostosis with amegakaryocytic thrombocytopenia"]}