{"Name":"Pheochromocytoma/paraganglioma syndrome 4","DiseaseID__c":"GARD:0010546","id":10546,"encodedName":"pheochromocytomaparaganglioma-syndrome-4","IsDeleted":false,"Disease_Name_Full__c":"Pheochromocytoma/paraganglioma syndrome 4","Xref_IDs__c":"C1861848; MEDGEN:349380; MONDO:0007273; OMIM:115310","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:0007273","Disease_Description__c":"Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.","GARD_Name__c":"Pheochromocytoma/paraganglioma syndrome 4","GARD_Synonym__c":"carotid body tumors and multiple extraadrenal pheochromocytomas; paraganglioma caused by mutation in sdhb; paraganglioma, familial malignant; paragangliomas 4; paragangliomas type 4; paragangliomas, hereditary extraadrenal; pheochromocytoma, familial extraadrenal; sdhb paraganglioma; sdhb-related hereditary paraganglioma-pheochromocytoma syndrome; sdhb-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 4); sdhb-related tumor predisposition","Curated_Disease_Description_Source__c":"MEDGEN:C1861848","Curated_Disease_Description__c":"Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:115310","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007273","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":"Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.","Curated_Disease_Description_Source__c":"MEDGEN:C1861848","GARD_Synonym__c":"carotid body tumors and multiple extraadrenal pheochromocytomas; paraganglioma caused by mutation in sdhb; paraganglioma, familial malignant; paragangliomas 4; paragangliomas type 4; paragangliomas, hereditary extraadrenal; pheochromocytoma, familial extraadrenal; sdhb paraganglioma; sdhb-related hereditary paraganglioma-pheochromocytoma syndrome; sdhb-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 4); sdhb-related tumor predisposition","Name":"Pheochromocytoma/paraganglioma syndrome 4","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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861848"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010546","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1548","Source__c":"Gene Review","Xref__c":"NBK1548"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861848","Source__c":"C1861848","Xref__c":"C1861848"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349380","Source__c":"C1861848","Xref__c":"MEDGEN:349380"},{"URL__c":"https://www.omim.org/entry/115310","Source__c":"C1861848; MONDO:0007273","Xref__c":"OMIM:115310"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007273","Source__c":"GARD:0010546","Xref__c":"MONDO:0007273"}],"GARD_Disease_Gene__c":[{"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":"OMIM:115310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006737","HPO_Synonym__c":"Pheochromocytoma, extraadrenal","HPO_Name__c":"Extraadrenal pheochromocytoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pheochromocytoma originating from the adrenal medulla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006748","HPO_Synonym__c":"Pheochromocytoma, adrenal; Pheochromocytomas, adrenal","HPO_Name__c":"Adrenal pheochromocytoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"A type of hypertension associated with pheochromocytoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002640","HPO_Name__c":"Hypertension associated with pheochromocytoma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002331","HPO_Name__c":"Recurrent paroxysmal headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002864","HPO_Synonym__c":"Paragangliomas, head and neck","HPO_Name__c":"Paraganglioma of head and neck","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","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:115310","Feature__r":{"HPO_Description__c":"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005584","HPO_Synonym__c":"Cancer starting in small tubes in kidneys; Hypernephroma; Renal carcinoma","HPO_Name__c":"Renal cell carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","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"}},{"Provided_By__c":"OMIM:115310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","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:115310","Feature__r":{"HPO_Description__c":"The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011976","HPO_Synonym__c":"Elevated urinary catecholamines","HPO_Name__c":"Elevated urinary catecholamine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:115310","Feature__r":{"HPO_Description__c":"Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000740","HPO_Name__c":"Episodic paroxysmal anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:115310","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:115310","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:115310","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"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["carotid body tumors and multiple extraadrenal pheochromocytomas"," paraganglioma caused by mutation in sdhb"," paraganglioma, familial malignant"," paragangliomas 4"," paragangliomas type 4"," paragangliomas, hereditary extraadrenal"," pheochromocytoma, familial extraadrenal"," sdhb paraganglioma"," sdhb-related hereditary paraganglioma-pheochromocytoma syndrome"," sdhb-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 4)"," sdhb-related tumor predisposition"]}