{"Name":"Pheochromocytoma/paraganglioma syndrome 1","DiseaseID__c":"GARD:0007324","id":7324,"encodedName":"pheochromocytomaparaganglioma-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Pheochromocytoma/paraganglioma syndrome 1","Xref_IDs__c":"C3494181; MEDGEN:488134; MONDO:0008192; OMIM:168000","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008192","Disease_Description__c":"Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.","GARD_Name__c":"Pheochromocytoma/paraganglioma syndrome 1","GARD_Synonym__c":"glomus tumors familial 1; paraganglioma - glomus jugulare; paraganglioma caused by mutation in sdhd; paragangliomas 1; paragangliomas 1, with or without deafness; paragangliomas familial 1; paragangliomas type 1; paragangliomas, familial nonchromaffin, 1; paragangliomata; pgl 1; sdhd paraganglioma; sdhd-related hereditary paraganglioma-pheochromocytoma syndrome; sdhd-related tumor predisposition","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime. Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the \"fight-or-flight\" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:168000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008192","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":"Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. Paragangliomas are usually found in the head, neck, or torso. However, a type of paraganglioma known as pheochromocytoma develops in the adrenal glands. Adrenal glands are located on top of each kidney and produce hormones in response to stress. Most people with paraganglioma develop only one tumor in their lifetime. Some people develop a paraganglioma or pheochromocytoma as part of a hereditary syndrome that may affect other organs and tissues in the body. However, the tumors often are not associated with any syndromes, in which case the condition is called nonsyndromic paraganglioma or pheochromocytoma. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the \"fight-or-flight\" response, a series of changes in the body due to hormones released in response to stress. Although most sympathetic paragangliomas are pheochromocytomas, some are found outside the adrenal glands, usually in the abdomen, and are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"glomus tumors familial 1; paraganglioma - glomus jugulare; paraganglioma caused by mutation in sdhd; paragangliomas 1; paragangliomas 1, with or without deafness; paragangliomas familial 1; paragangliomas type 1; paragangliomas, familial nonchromaffin, 1; paragangliomata; pgl 1; sdhd paraganglioma; sdhd-related hereditary paraganglioma-pheochromocytoma syndrome; sdhd-related tumor predisposition","Name":"Pheochromocytoma/paraganglioma syndrome 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders UK","Website__c":"https://www.amend.org.uk/"},{"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/0007324","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/168000","Source__c":"C3494181; MONDO:0008192","Xref__c":"OMIM:168000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3494181","Source__c":"C3494181","Xref__c":"C3494181"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=488134","Source__c":"C3494181","Xref__c":"MEDGEN:488134"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008192","Source__c":"GARD:0007324","Xref__c":"MONDO:0008192"}],"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}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:168000","HPO_Frequency__c":"Occasional (5-29%)","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:168000","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:168000","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:168000","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:168000","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:168000","Feature__r":{"HPO_Description__c":"An abnormal increase in catecholamine concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003334","HPO_Name__c":"Elevated circulating catecholamine level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168000","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168000","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:168000","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:168000","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:168000","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:168000","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:168000","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:168000","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:168000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100635","HPO_Name__c":"Carotid paraganglioma","Feature_System__c":"Nervous System; Endocrine System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168000","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:168000","HPO_Frequency__c":"Frequent (30-79%)","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:168000","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:168000","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:168000","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:168000","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"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["glomus tumors familial 1"," paraganglioma - glomus jugulare"," paraganglioma caused by mutation in sdhd"," paragangliomas 1"," paragangliomas 1, with or without deafness"," paragangliomas familial 1"," paragangliomas type 1"," paragangliomas, familial nonchromaffin, 1"," paragangliomata"," pgl 1"," sdhd paraganglioma"," sdhd-related hereditary paraganglioma-pheochromocytoma syndrome"," sdhd-related tumor predisposition"]}