{"Name":"Pheochromocytoma/paraganglioma syndrome 2","DiseaseID__c":"GARD:0010544","id":10544,"encodedName":"pheochromocytomaparaganglioma-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Pheochromocytoma/paraganglioma syndrome 2","Xref_IDs__c":"C1866552; C566646; MEDGEN:357076; MONDO:0011121; OMIM:601650","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011121","Disease_Description__c":"Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.","GARD_Name__c":"Pheochromocytoma/paraganglioma syndrome 2","GARD_Synonym__c":"glomus tumors, familial, 2; paraganglioma caused by mutation in sdhaf2; paragangliomas 2; paragangliomas type 2; sdhaf2 paraganglioma; sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome; sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2); sdhaf2-related tumor predisposition","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Paragangliomas 2 is a disease caused by a change in the SDHAF2 gene. This gene provides instructions for making a protein that is needed for the proper functioning of another protein called SDHA. When SDHA doesn't work properly, it can lead to the development of paragangliomas, which are rare tumors that form near the carotid artery, along nerve pathways in the head and neck and in other parts of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601650","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011121","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Paragangliomas 2 is a disease caused by a change in the SDHAF2 gene. This gene provides instructions for making a protein that is needed for the proper functioning of another protein called SDHA. When SDHA doesn't work properly, it can lead to the development of paragangliomas, which are rare tumors that form near the carotid artery, along nerve pathways in the head and neck and in other parts of the body.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"glomus tumors, familial, 2; paraganglioma caused by mutation in sdhaf2; paragangliomas 2; paragangliomas type 2; sdhaf2 paraganglioma; sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome; sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2); sdhaf2-related tumor predisposition","Name":"Pheochromocytoma/paraganglioma syndrome 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pheo Para Alliance","Website__c":"https://pheopara.org/"}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010544","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1548","Source__c":"Gene Review","Xref__c":"NBK1548"},{"URL__c":"https://www.omim.org/entry/601650","Source__c":"C1866552; MONDO:0011121","Xref__c":"OMIM:601650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357076","Source__c":"C1866552","Xref__c":"MEDGEN:357076"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866552","Source__c":"C1866552","Xref__c":"C1866552"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566646","Source__c":"MONDO:0011121","Xref__c":"C566646"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011121","Source__c":"GARD:0010544","Xref__c":"MONDO:0011121"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SDHAF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sdhaf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030074","HPO_Synonym__c":"Chemodectomas","HPO_Name__c":"Chemodectoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002886","HPO_Synonym__c":"Glomus vagale tumor; Vagal nerve tumors","HPO_Name__c":"Vagal paraganglioma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008629","HPO_Name__c":"Pulsatile tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","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":"OMIM:601650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001686","HPO_Synonym__c":"Aphonia","HPO_Name__c":"Loss of voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"A loss of the ability to move the vocal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001605","HPO_Synonym__c":"Inability to move vocal cords; Laryngeal paralysis","HPO_Name__c":"Vocal cord paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006715","HPO_Synonym__c":"Tympanic nerve tumor; Tympanic nerve tumors","HPO_Name__c":"Glomus tympanicum paraganglioma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601650","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003001","HPO_Synonym__c":"Glomus jugulare tumor; Glomus jugulare tumors","HPO_Name__c":"Glomus jugular tumor","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["glomus tumors, familial, 2"," paraganglioma caused by mutation in sdhaf2"," paragangliomas 2"," paragangliomas type 2"," sdhaf2 paraganglioma"," sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome"," sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)"," sdhaf2-related tumor predisposition"]}