{"Name":"Carney-Stratakis syndrome","DiseaseID__c":"GARD:0010643","id":10643,"encodedName":"carney-stratakis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Carney-Stratakis syndrome","Xref_IDs__c":"722377004; C1847319; C564650; C94831; DOID:0080533; MEDGEN:376098; MONDO:0011740; OMIM:606864; ORPHA:97286","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011740","Disease_Description__c":"Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.","GARD_Name__c":"Carney-Stratakis syndrome","GARD_Synonym__c":"carney dyad; carney stratakis dyad; carney stratakis syndrome; carney-stratakis dyad; gist-paraganglioma dyad; paraganglioma and gastric stromal sarcoma; paraganglioma and gastric stromal sarcoma syndrome; paraganglioma and gastrointestinal stromal tumor; sdhb-related paraganglioma and gastric stromal sarcoma; sdhc-related paraganglioma and gastric stromal sarcoma; sdhd-related paraganglioma and gastric stromal sarcoma","Curated_Disease_Description_Source__c":"MONDO:0011740","Curated_Disease_Description__c":"Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:97286","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011740","ORPHANET_ID__c":"ORPHA:97286","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de carney-stratakis","Spanish_Description_Source__c":"ORPHA:97286","Spanish_Description__c":"El síndrome de Carney-Stratakis es un síndrome familiar descrito recientemente y que se caracteriza por tumores del estroma gástrico intestinal (GIST, en sus siglas en inglés) y paragangliomas que, a menudo, se localizan en varios sitios.","Spanish_Disease_Name__c":"síndrome de carney-stratakis","Spanish_GARD_Synonym__c":"díada carney; díada carney-stratakis; díada de carney; díada de carney-stratakis; díada gist-paraganglioma; paraganglioma y sarcoma del estroma gástrico; paraganglioma y sarcoma estromal gástrico","Category_Linearization__c":"ORPHA:250908","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":"Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.","Curated_Disease_Description_Source__c":"MONDO:0011740","GARD_Synonym__c":"carney dyad; carney stratakis dyad; carney stratakis syndrome; carney-stratakis dyad; gist-paraganglioma dyad; paraganglioma and gastric stromal sarcoma; paraganglioma and gastric stromal sarcoma syndrome; paraganglioma and gastrointestinal stromal tumor; sdhb-related paraganglioma and gastric stromal sarcoma; sdhc-related paraganglioma and gastric stromal sarcoma; sdhd-related paraganglioma and gastric stromal sarcoma","Name":"Carney-Stratakis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"GIST Support International","Website__c":"https://www.gistsupport.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:97286"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:97286"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847319"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010643","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722377004","Source__c":"C1847319; MONDO:0011740","Xref__c":"722377004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847319","Source__c":"C1847319","Xref__c":"C1847319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564650","Source__c":"MONDO:0011740","Xref__c":"C564650"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080533","Source__c":"MONDO:0011740","Xref__c":"DOID:0080533"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376098","Source__c":"C1847319","Xref__c":"MEDGEN:376098"},{"URL__c":"https://www.orpha.net/en/disease/detail/97286","Source__c":"C1847319; MONDO:0011740; ORPHA:97286","Xref__c":"ORPHA:97286"},{"URL__c":"https://www.omim.org/entry/606864","Source__c":"C1847319; MONDO:0011740; ORPHA:97286","Xref__c":"OMIM:606864"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C94831","Source__c":"C1847319; MONDO:0011740","Xref__c":"C94831"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011740","Source__c":"GARD:0010643","Xref__c":"MONDO:0011740"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SDHD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sdhd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SDHC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sdhc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SDHB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sdhb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002668","HPO_Synonym__c":"Carotid body tumors; Paragangliomas","HPO_Name__c":"Paraganglioma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100723","HPO_Synonym__c":"Gastrointestinal stromal tumor; GI stroma tumor; GIST","HPO_Name__c":"Gastrointestinal stroma tumor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005214","HPO_Synonym__c":"Bowel obstruction; Intestinal blockage; Intestinal obstruction","HPO_Name__c":"Intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"]},"synonyms":["carney dyad"," carney stratakis dyad"," carney stratakis syndrome"," carney-stratakis dyad"," gist-paraganglioma dyad"," paraganglioma and gastric stromal sarcoma"," paraganglioma and gastric stromal sarcoma syndrome"," paraganglioma and gastrointestinal stromal tumor"," sdhb-related paraganglioma and gastric stromal sarcoma"," sdhc-related paraganglioma and gastric stromal sarcoma"," sdhd-related paraganglioma and gastric stromal sarcoma"]}