{"Name":"Heart-hand syndrome type 3","DiseaseID__c":"GARD:0002614","id":2614,"encodedName":"heart-hand-syndrome-type-3","IsDeleted":false,"Disease_Name_Full__c":"Heart-hand syndrome type 3","Xref_IDs__c":"721013001; C1841657; C535853; MEDGEN:333883; MONDO:0007702; OMIM:140450; ORPHA:1342","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007702","Disease_Description__c":"Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.","GARD_Name__c":"Heart-hand syndrome type 3","GARD_Synonym__c":"atriodigital dysplasia type 3; brachydactyly and intraventricular conduction defect; cardiomelic syndrome type 3; heart hand syndrome spanish type; heart limb syndrome type 3; heart-hand syndrome, spanish type; heart-limb syndrome type 3; upper limb malformations and congenital cardiac anomalies","Curated_Disease_Description_Source__c":"MONDO:0007702","Curated_Disease_Description__c":"Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1342","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007702","ORPHANET_ID__c":"ORPHA:1342","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de corazón-mano tipo 3","Spanish_Description_Source__c":"ORPHA:1342","Spanish_Description__c":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por un defecto de la conducción cardíaca (seno enfermo, bloqueo de rama) y braquidactilia, que afecta principalmente a las falanges medias de ambas manos, en conjunción con un osículo extra en la falange proximal de ambos dedos índice. Las anomalías de los pies son más sutiles. No ha habido más descripciones en la literatura desde 1980.","Spanish_Disease_Name__c":"síndrome de corazón-mano tipo 3","Spanish_GARD_Synonym__c":"displasia atriodigital tipo 3; síndrome cardiomélico tipo 3; síndrome de corazón-extremidad tipo 3; síndrome de corazón-mano tipo español","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":"Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.","Curated_Disease_Description_Source__c":"MONDO:0007702","GARD_Synonym__c":"atriodigital dysplasia type 3; brachydactyly and intraventricular conduction defect; cardiomelic syndrome type 3; heart hand syndrome spanish type; heart limb syndrome type 3; heart-hand syndrome, spanish type; heart-limb syndrome type 3; upper limb malformations and congenital cardiac anomalies","Name":"Heart-hand syndrome type 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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1342"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721013001","Source__c":"C1841657; MONDO:0007702","Xref__c":"721013001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1841657","Source__c":"C1841657","Xref__c":"C1841657"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535853","Source__c":"MONDO:0007702","Xref__c":"C535853"},{"URL__c":"https://www.orpha.net/en/disease/detail/1342","Source__c":"C1841657; MONDO:0007702; ORPHA:1342","Xref__c":"ORPHA:1342"},{"URL__c":"https://www.omim.org/entry/140450","Source__c":"C1841657; MONDO:0007702; ORPHA:1342","Xref__c":"OMIM:140450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333883","Source__c":"C1841657","Xref__c":"MEDGEN:333883"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007702","Source__c":"GARD:0002614","Xref__c":"MONDO:0007702"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:140450","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140450","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140450","Feature__r":{"HPO_Description__c":"Displacement of the 2nd (index) finger towards the ulnar side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009464","HPO_Synonym__c":"Medially deviated index finger; Second finger ulnar deviation; Ulnar angulation of the index finger; Ulnar deviation of index fingers","HPO_Name__c":"Ulnar deviation of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140450","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140450","Feature__r":{"HPO_Description__c":"An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011704","HPO_Synonym__c":"Sinoatrial node disease","HPO_Name__c":"Sick sinus syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Orthopedics","Clinical Cardiac Electrophysiology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["atriodigital dysplasia type 3"," brachydactyly and intraventricular conduction defect"," cardiomelic syndrome type 3"," heart hand syndrome spanish type"," heart limb syndrome type 3"," heart-hand syndrome, spanish type"," heart-limb syndrome type 3"," upper limb malformations and congenital cardiac anomalies"]}