{"Name":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","DiseaseID__c":"GARD:0017904","id":17904,"encodedName":"diaph1-related-sensorineural-hearing-loss-thrombocytopenia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","Xref_IDs__c":"1172604004; C5567465; MEDGEN:1798888; MONDO:0044635; ORPHA:494444","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:494444","Disease_Description__c":"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.","GARD_Name__c":"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","GARD_Synonym__c":"diaph1-related sensorineural deafness-thrombocytopenia syndrome; diaph1-related sensorineural deafness, thrombocytopenia syndrome; diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome","Curated_Disease_Description_Source__c":"ORPHA:494444","Curated_Disease_Description__c":"A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:494444","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044635","ORPHANET_ID__c":"ORPHA:494444","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoacusia neurosensorial-trombocitopenia asociado al gen diaph1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipoacusia neurosensorial-trombocitopenia asociado al gen diaph1","Spanish_GARD_Synonym__c":"síndrome de sordera neurosensorial-trombocitopenia asociado al gen diaph1","Category_Linearization__c":"ORPHA:98036","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 disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.","Curated_Disease_Description_Source__c":"ORPHA:494444","GARD_Synonym__c":"diaph1-related sensorineural deafness-thrombocytopenia syndrome; diaph1-related sensorineural deafness, thrombocytopenia syndrome; diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome","Name":"DIAPH1-related sensorineural hearing loss-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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:494444"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:494444"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:494444"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1434","Source__c":"Gene Review","Xref__c":"NBK1434"},{"URL__c":"https://www.orpha.net/en/disease/detail/494444","Source__c":"C5567465; MONDO:0044635","Xref__c":"ORPHA:494444"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798888","Source__c":"C5567465","Xref__c":"MEDGEN:1798888"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567465","Source__c":"C5567465","Xref__c":"C5567465"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172604004","Source__c":"C5567465","Xref__c":"1172604004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044635","Source__c":"GARD:0017904","Xref__c":"MONDO:0044635"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DIAPH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006285","HPO_Synonym__c":"Decreased enamel mineralisation; Hypomineralization of enamel; Mottled tooth enamel; Poorly mineralized tooth enamel","HPO_Name__c":"Enamel hypomineralization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Average platelet volume above the upper limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011877","HPO_Synonym__c":"Large platelets","HPO_Name__c":"Increased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:494444","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Hematology","Otolaryngology","Pediatrics"]},"synonyms":["diaph1-related sensorineural deafness-thrombocytopenia syndrome"," diaph1-related sensorineural deafness, thrombocytopenia syndrome"," diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome"]}