{"Name":"Heart-hand syndrome, Slovenian type","DiseaseID__c":"GARD:0009846","id":9846,"encodedName":"heart-hand-syndrome-slovenian-type","IsDeleted":false,"Disease_Name_Full__c":"Heart-hand syndrome, Slovenian type","Xref_IDs__c":"721014007; C1857829; C535852; MEDGEN:341859; MONDO:0012417; OMIM:610140; ORPHA:168796","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012417","Disease_Description__c":"A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.","GARD_Name__c":"Heart-hand syndrome, Slovenian type","GARD_Synonym__c":"atriodigital dysplasia slovenian type; atriodigital dysplasia, slovenian type; cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome; cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; heart-hand syndrome slovenian type","Curated_Disease_Description_Source__c":"MONDO:0012417","Curated_Disease_Description__c":"A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:168796","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012417","ORPHANET_ID__c":"ORPHA:168796","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome corazón-mano tipo esloveno","Spanish_Description_Source__c":"ORPHA:168796","Spanish_Description__c":"El síndrome corazón-mano tipo esloveno es una forma autosómica dominante poco frecuente del síndrome corazón-mano (consulte este término), descrita por primera vez en miembros de una familia eslovena, y que se caracteriza por: aparición en la edad adulta, enfermedad progresiva del sistema de conducción cardíaca, taquiarritmias que pueden provocar una muerte súbita, miocardiopatía dilatada y braquidactilia, con menor afectación en manos que en pies). En algunos casos, se ha observado debilidad muscular y/o hallazgos electromiográficos miopáticos.","Spanish_Disease_Name__c":"síndrome corazón-mano tipo esloveno","Spanish_GARD_Synonym__c":"displasia atriodigital tipo esloveno; síndrome de enfermedad de conducción cardíaca-miocardiopatía dilatada-braquidactilia","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 autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.","Curated_Disease_Description_Source__c":"MONDO:0012417","GARD_Synonym__c":"atriodigital dysplasia slovenian type; atriodigital dysplasia, slovenian type; cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome; cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome; heart-hand syndrome slovenian type","Name":"Heart-hand syndrome, Slovenian type","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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:168796"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1857829"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009846","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721014007","Source__c":"C1857829; MONDO:0012417","Xref__c":"721014007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535852","Source__c":"MONDO:0012417","Xref__c":"C535852"},{"URL__c":"https://www.omim.org/entry/610140","Source__c":"C1857829; MONDO:0012417; ORPHA:168796","Xref__c":"OMIM:610140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341859","Source__c":"C1857829","Xref__c":"MEDGEN:341859"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857829","Source__c":"C1857829","Xref__c":"C1857829"},{"URL__c":"https://www.orpha.net/en/disease/detail/168796","Source__c":"C1857829; MONDO:0012417; ORPHA:168796","Xref__c":"ORPHA:168796"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012417","Source__c":"GARD:0009846","Xref__c":"MONDO:0012417"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of the electrical continuity between the atria and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005150","HPO_Name__c":"Abnormal atrioventricular conduction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011702","HPO_Name__c":"Abnormal electrophysiology of sinoatrial node origin","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005115","HPO_Synonym__c":"Supraventricular arrhythmias","HPO_Name__c":"Supraventricular arrhythmia","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"],"Account":["Cardiomyopathy","Congenital limb malformation"]},"synonyms":["atriodigital dysplasia slovenian type"," atriodigital dysplasia, slovenian type"," cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome"," cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome"," heart-hand syndrome slovenian type"]}