Pheochromocytoma/paraganglioma syndrome 1

Preferred Label : Pheochromocytoma/paraganglioma syndrome 1;

Symbol : PPGL1;

CISMeF acronym : CBT1; PGL; PGL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paragangliomas, familial, 1; Paragangliomata; Glomus tumors, familial, 1; Carotid body tumors; Glomus jugulare tumors; Paraganglioma, carotid body; Paragangliomas, familial nonchromaffin, 1; PGL; CHEMODECTOMAS; CBT1; PGL1; Paragangliomas 1;

Description : 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;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the succinate dehydrogenase complex subunit D gene (SDHD, 602690.0001);

Neoplasia : Paragangliomas; Multiple tumors in 74% of patients; Paragangliomas, head and neck (79%); Chemodectomas; Carotid body tumors (most common location); Glomus jugular tumors; Vagal nerve tumors (glomus vagale); Tympanic nerve tumors (glomus tympanicum); Pheochromocytoma, adrenal (53%); Pheochromocytoma, extraadrenal (21%);

Laboratory abnormalities : Elevated catecholamines (in patients with pheochromocytoma);

Prefixed ID : #168000;

Details

Origin ID

168000;

UMLS CUI

C3494181;

Automatic exact mappings (from CISMeF team)
- CBT-1 (plant alkaloid) [MeSH Supplementary Concept]
- Carotid Body Paraganglioma [NCIt concept]
- Carotid body paraganglioma [ICD-11 Extension code]
- Carotid body tumor [ICD-O code]
- Carotid body tumor [ICD-9 code]
- Carotid body tumor [MedDRA LLT]
- Carotid body tumor (morphologic abnormality) [SNOMED CT concept]
- Carotid body tumour [MedDRA Preferred Term]
- Chemodectoma [ICD-11 Extension code]
- Chemodectoma [HPO term]
- Chemodectoma [MedDRA LLT]
- Extra-adrenal paraganglioma (disorder) [SNOMED CT concept]
- Extra-adrenal paraganglioma (morphologic abnormality) [SNOMED CT concept]
- Femtogram per Milliliter [NCIt concept]
- Glomus jugular tumor [HPO term]
- Glomus jugulare tumor [ICD-9 code]
- Glomus jugulare tumor [MedDRA LLT]
- Glomus jugulare tumor (morphologic abnormality) [SNOMED CT concept]
- Glomus jugulare tumour [MedDRA Preferred Term]
- Jugulotympanic Paraganglioma [NCIt concept]
- MDR Modulator CBT-1 [NCIt concept]
- PGL(a) [MeSH concept]
- Paraganglioma [HPO term]
- Paraganglioma [NCIt concept]
- Paraganglioma (disorder) [SNOMED CT concept]
- Paraganglioma (morphologic abnormality) [SNOMED CT concept]
- SDHD wt Allele [NCIt concept]
- carotid body tumor [MeSH Descriptor]
- carotid body tumor [MeSH concept]
- carotid body tumor [SNOMED Notion]
- chemodectoma [MedDRA Preferred Term]
- glomus jugulare tumor [MeSH Descriptor]
- glomus jugulare tumor [MeSH concept]
- glomus jugulare tumor [SNOMED Notion]
- glomus tumors, familial, 1 [MeSH concept]
- paraganglioma [DO Concept]
- paraganglioma [MeSH Descriptor]
- paraganglioma [MeSH concept]
- paraganglioma [Radlex concept]
- paraganglioma, Extra-Adrenal [MeSH concept]
- paraganglioma, extra-adrenal [MeSH Descriptor]
- paraganglioma, nos [SNOMED Notion]
- paragangliomas with sensorineural hearing loss [MeSH concept]
- paragangliomas with sensorineural hearing loss [MeSH Supplementary Concept]
- peptide-Gly-Leu-amide [MeSH Supplementary Concept]
- peptidylamidoglycolate lyase activity [GO term]
- persistent generalized lymphadenopathy [DO Concept]
- symbol withdrawn PGL1 [HGNC gene]
Broader ORDO disease(s)
- Catecholamine-producing tumor [ORDO Disease]
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
DO Cross reference
- paraganglioma [DO Concept]
Genes related to phenotype
- Succinate Dehydrogenase complex, subunit D [OMIM gene]
HPO term(s)
- Adrenal pheochromocytoma [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chemodectoma [HPO term]
- Conductive hearing impairment [HPO term]
- Cranial nerve paralysis [HPO term]
- Diaphoresis [HPO term]
- Elevated circulating catecholamine level [HPO term]
- Episodic paroxysmal anxiety [HPO term]
- Extraadrenal pheochromocytoma [HPO term]
- Glomus jugular tumor [HPO term]
- Glomus tympanicum paraganglioma [HPO term]
- Hoarse voice [HPO term]
- Hyperhidrosis [HPO term]
- Hypertension associated with pheochromocytoma [HPO term]
- Loss of voice [HPO term]
- Multiple tumors [HPO term]
- Palpitations [HPO term]
- Pulsatile tinnitus [HPO term]
- Recurrent paroxysmal headache [HPO term]
- Tachycardia [HPO term]
- Vagal paraganglioma [HPO term]
- Vocal cord paralysis [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Gangliocytic paraganglioma (disorder) [SNOMED CT concept]
- Gangliocytic paraganglioma (morphologic abnormality) [SNOMED CT concept]
- Neoplasm of paraganglion (disorder) [SNOMED CT concept]
- Paraganglioma [NCIt concept]
- Paraganglioma [MedDRA LLT]
- Paraganglioma [HPO term]
- Paraganglioma [PASCAL descriptor]
- Paraganglioma (disorder) [SNOMED CT concept]
- Paraganglioma (morphologic abnormality) [SNOMED CT concept]
- Paraganglioma, NOS [ICD-O code]
- Paraganglion neoplasm [MedDRA Preferred Term]
- Paraganglion neoplasm NOS [MedDRA LLT]
- gangliocytic paraganglioma [SNOMED Notion]
- glomus tumors, familial, 1 [MeSH concept]
- paraganglioma [MeSH Descriptor]
- paraganglioma [MeSH concept]
- paraganglioma [Radlex concept]
- paraganglioma [DO Concept]
- paraganglioma [Disease (Nov.)]
- paraganglioma, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- carotid body neoplasm [Disease (Nov.)]
- glomus jugulare tumor [Disease (Nov.)]

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