Pheochromocytoma/paraganglioma syndrome 4

Preferred Label : Pheochromocytoma/paraganglioma syndrome 4;

Symbol : PPGL4;

CISMeF acronym : PGL4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pheochromocytoma, familial extraadrenal; Paraganglioma, familial malignant; Pheochromocytoma, extraadrenal, and cervical paraganglioma; Carotid body tumors and multiple extraadrenal pheochromocytomas; Paragangliomas, hereditary extraadrenal; PGL4; Paragangliomas 4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the succinate dehydrogenase complex subunit B gene (SDHB, 185470.0001);

Neoplasia : Paragangliomas; Multiple tumors in 28% of patients; Paragangliomas, head and neck (31%); Chemodectomas; Carotid body tumors; Glomus jugular tumors; Pheochromocytomas, adrenal (28%); Pheochromocytomas, extraadrenal (48%); Malignancy (34%); Gastrointestinal stromal tumors (less common); Renal cell carcinoma (less common); Neuroblastoma (less common);

Laboratory abnormalities : Increased urinary catecholamines (with pheochromocytoma);

Prefixed ID : #115310;

Details

Origin ID

115310;

UMLS CUI

C1861848;

Automatic exact mappings (from CISMeF team)
- Paragangliomas 4 [MeSH concept]
- SDHB wt Allele [NCIt concept]
- paragangliomas 3 [MeSH Supplementary Concept]
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, iron-sulfur subunit b [OMIM gene]
HPO term(s)
- Adrenal pheochromocytoma [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chemodectoma [HPO term]
- Cranial nerve paralysis [HPO term]
- Diaphoresis [HPO term]
- Elevated urinary catecholamines [HPO term]
- Episodic paroxysmal anxiety [HPO term]
- Extraadrenal pheochromocytoma [HPO term]
- Gastrointestinal stroma tumor [HPO term]
- Glomus jugular tumor [HPO term]
- Hyperhidrosis [HPO term]
- Hypertension associated with pheochromocytoma [HPO term]
- Incomplete penetrance [HPO term]
- Multiple tumors [HPO term]
- Neoplasm [HPO term]
- Neuroblastoma [HPO term]
- Palpitations [HPO term]
- Paraganglioma [HPO term]
- Paraganglioma of head and neck [HPO term]
- Pulsatile tinnitus [HPO term]
- Recurrent paroxysmal headache [HPO term]
- Renal cell carcinoma [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients