{"Name":"Heart defect - tongue hamartoma - polysyndactyly syndrome","DiseaseID__c":"GARD:0004166","id":4166,"encodedName":"heart-defect-tongue-hamartoma-polysyndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Heart defect - tongue hamartoma - polysyndactyly syndrome","Xref_IDs__c":"C1857587; C535849; DOID:0111591; MEDGEN:341804; MONDO:0009008; OMIM:217085; ORPHA:1338","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Description_Source__c":"ORPHA:1338","Disease_Description__c":"A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.","GARD_Name__c":"Heart defect - tongue hamartoma - polysyndactyly syndrome","GARD_Synonym__c":"congenital heart defects, hamartomas of tongue, and polysyndactyly; heart defect-tongue hamartoma-polysyndactyly syndrome; ostravik-lindemann-solberg syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C2931046","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1338","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009008","ORPHANET_ID__c":"ORPHA:1338","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cardiopatía-hamartomas linguales-polisindactilia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de cardiopatía-hamartomas linguales-polisindactilia","Spanish_GARD_Synonym__c":"síndrome de ostravik-lindemann-solberg","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 genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.","Curated_Disease_Description_Source__c":"MEDGEN:C2931046","GARD_Synonym__c":"congenital heart defects, hamartomas of tongue, and polysyndactyly; heart defect-tongue hamartoma-polysyndactyly syndrome; ostravik-lindemann-solberg syndrome","Name":"Heart defect - tongue hamartoma - polysyndactyly 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1338"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004166","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1338","Source__c":"C1857587; MONDO:0009008","Xref__c":"ORPHA:1338"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535849","Source__c":"MONDO:0009008","Xref__c":"C535849"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111591","Source__c":"MONDO:0009008","Xref__c":"DOID:0111591"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857587","Source__c":"C1857587","Xref__c":"C1857587"},{"URL__c":"https://www.omim.org/entry/217085","Source__c":"C1857587; MONDO:0009008; ORPHA:1338","Xref__c":"OMIM:217085"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341804","Source__c":"C1857587","Xref__c":"MEDGEN:341804"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009008","Source__c":"GARD:0004166","Xref__c":"MONDO:0009008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WDPCP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001682","HPO_Synonym__c":"Narrowing of blood vessel below aortic heart valve; Subaortic stenosis","HPO_Name__c":"Subvalvular aortic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100835","HPO_Synonym__c":"Benign neoplasm of the CNS","HPO_Name__c":"Benign neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011802","HPO_Synonym__c":"Lingual hamartoma","HPO_Name__c":"Hamartoma of tongue","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1338","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001233","HPO_Synonym__c":"Syndactyly 2nd-3rd fingers; Syndactyly, 2-3 finger; Webbed 2nd-3rd fingers","HPO_Name__c":"2-3 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["congenital heart defects, hamartomas of tongue, and polysyndactyly"," heart defect-tongue hamartoma-polysyndactyly syndrome"," ostravik-lindemann-solberg syndrome"]}