Format

Send to:

Choose Destination

Links from PubMed

Paragangliomas 1(PGL1)

MedGen UID:
358258
Concept ID:
C1868633
Disease or Syndrome
Synonyms: CAROTID BODY TUMORS; Chemodectomas; Glomus jugulare tumors; Glomus tumor; Glomus tumors familial 1; Paraganglioma - glomus jugulare; PARAGANGLIOMA, CAROTID BODY; Paragangliomas familial 1; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; Paragangliomata; PGL 1; PGL1; SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): SDHD (11q23.1)
OMIM®: 168000

Disease characteristics

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; 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 hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas. [from GeneReviews]
Authors:
Salman Kirmani  |  William F Young   view full author information

Additional descriptions

From OMIM
Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980). Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of Paragangliomas See also PGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; and PGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15.  http://www.omim.org/entry/168000
From GHR
Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.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. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, 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.Researchers have identified four types of hereditary paraganglioma-pheochromocytoma, named types 1 through 4. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s.  https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma

Clinical features

Carotid body paraganglioma
MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Glomus jugular tumor
MedGen UID:
4905
Concept ID:
C0017671
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; 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 hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Vagus Nerve Paraganglioma
MedGen UID:
141635
Concept ID:
C0474819
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.
Extraadrenal pheochromocytoma
MedGen UID:
263453
Concept ID:
C1257877
Neoplastic Process
Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear.
Glomus tympanicum paraganglioma
MedGen UID:
356565
Concept ID:
C1866555
Neoplastic Process
Paraganglioma-related cranial nerve palsy
MedGen UID:
871228
Concept ID:
C4025709
Disease or Syndrome
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Pathologic Function
Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased.
Palpitations (with pheochromocytoma)
MedGen UID:
381400
Concept ID:
C1854346
Finding
Tachycardia (with pheochromocytoma)
MedGen UID:
343097
Concept ID:
C1854347
Finding
Hypertension associated with pheochromocytoma
MedGen UID:
871214
Concept ID:
C4025693
Disease or Syndrome
A type of hypertension associated with pheochromocytoma.
Carotid body paraganglioma
MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Glomus jugular tumor
MedGen UID:
4905
Concept ID:
C0017671
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; 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 hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Vagus Nerve Paraganglioma
MedGen UID:
141635
Concept ID:
C0474819
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.
Extraadrenal pheochromocytoma
MedGen UID:
263453
Concept ID:
C1257877
Neoplastic Process
Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear.
Glomus tympanicum paraganglioma
MedGen UID:
356565
Concept ID:
C1866555
Neoplastic Process
Elevated circulating catecholamine level
MedGen UID:
871156
Concept ID:
C4025629
Finding
An abnormal increase in catecholamine concentration in the blood.
Paraganglioma-related cranial nerve palsy
MedGen UID:
871228
Concept ID:
C4025709
Disease or Syndrome
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Conductive hearing loss
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear.
Carotid body paraganglioma
MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Glomus jugular tumor
MedGen UID:
4905
Concept ID:
C0017671
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; 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 hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Vagus Nerve Paraganglioma
MedGen UID:
141635
Concept ID:
C0474819
Neoplastic Process
A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.
Extraadrenal pheochromocytoma
MedGen UID:
263453
Concept ID:
C1257877
Neoplastic Process
Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
Headache (with pheochromocytoma)
MedGen UID:
340201
Concept ID:
C1854337
Finding
Anxiety (with pheochromocytoma)
MedGen UID:
340203
Concept ID:
C1854339
Finding
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear.
Vocal cord paralysis (caused by tumor impingement)
MedGen UID:
344266
Concept ID:
C1854345
Finding
Glomus tympanicum paraganglioma
MedGen UID:
356565
Concept ID:
C1866555
Neoplastic Process
Paraganglioma-related cranial nerve palsy
MedGen UID:
871228
Concept ID:
C4025709
Disease or Syndrome
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Vocal cord paralysis (caused by tumor impingement)
MedGen UID:
344266
Concept ID:
C1854345
Finding
Loss of voice
MedGen UID:
2006
Concept ID:
C0003564
Sign or Symptom
A disorder characterized by the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).
Hoarse voice (caused by tumor impingement)
MedGen UID:
381401
Concept ID:
C1854348
Finding
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating).
Diaphoresis (with pheochromocytoma)
MedGen UID:
340204
Concept ID:
C1854341
Finding

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS)
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology
J Clin Oncol 2010 Feb 10;28(5):893-901. Epub 2010 Jan 11 doi: 10.1200/JCO.2009.27.0660. [Epub ahead of print] PMID: 20065170
Zon RT, Goss E, Vogel VG, Chlebowski RT, Jatoi I, Robson ME, Wollins DS, Garber JE, Brown P, Kramer BS; American Society of Clinical Oncology
J Clin Oncol 2009 Feb 20;27(6):986-93. Epub 2008 Dec 15 doi: 10.1200/JCO.2008.16.3691. [Epub ahead of print] PMID: 19075281Free PMC Article

Recent clinical studies

Etiology

Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA
Am J Surg Pathol 2013 Oct;37(10):1612-8. doi: 10.1097/PAS.0b013e318293d83c. PMID: 23797725
Liu DG, Ma XC, Li BM, Zhang JG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Jan;101(1):102-9. Epub 2005 Oct 12 doi: 10.1016/j.tripleo.2005.05.062. [Epub ahead of print] PMID: 16360614
Boedeker CC, Neumann HP, Ridder GJ, Maier W, Schipper J
Otolaryngol Head Neck Surg 2005 Mar;132(3):467-70. doi: 10.1016/j.otohns.2004.09.024. PMID: 15746863

Diagnosis

Liu DG, Ma XC, Li BM, Zhang JG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Jan;101(1):102-9. Epub 2005 Oct 12 doi: 10.1016/j.tripleo.2005.05.062. [Epub ahead of print] PMID: 16360614
Boedeker CC, Neumann HP, Ridder GJ, Maier W, Schipper J
Otolaryngol Head Neck Surg 2005 Mar;132(3):467-70. doi: 10.1016/j.otohns.2004.09.024. PMID: 15746863
Bostwick DG, Null WE, Holmes D, Weber E, Barchas JD, Bensch KG
N Engl J Med 1987 Dec 3;317(23):1439-43. doi: 10.1056/NEJM198712033172304. PMID: 2891033

Prognosis

Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA
Am J Surg Pathol 2013 Oct;37(10):1612-8. doi: 10.1097/PAS.0b013e318293d83c. PMID: 23797725

Clinical prediction guides

Bostwick DG, Null WE, Holmes D, Weber E, Barchas JD, Bensch KG
N Engl J Med 1987 Dec 3;317(23):1439-43. doi: 10.1056/NEJM198712033172304. PMID: 2891033

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...